qPCR 2007 Symposium TALK Presentations

Abstracts - talk presentations

Advances in Quantitative PCR for Research and Diagnostic Applications.

Thomas W. Myers

Program in Core Research, Roche Molecular Systems, Alameda, CA 94501, US

Email: thomas.myers@roche.com

We have come a long way in developing the processes of reverse transcription and/or DNA amplification of RNA and DNA targets since the introduction of PCR. Many new technologies have been developed; from carryover contamination control, single enzyme RT/PCR, HotStart methodologies, and numerous strategies for quantitative PCR. Of particular interest for the detection of nucleic acid targets requiring high sensitivity and high specificity, especially for quantitative PCR strategies, the development of HotStart techniques ranging from barrier methods (wax), antibodies directed against DNA polymerases, reversible chemically modified DNA polymerases, and more recently chemically modified oligonucleotide primers, has allowed for enhanced ease of use, reaction robustness, and improved reproducibility. Similar to the advancement in the enzymatic and chemical aspects of these reactions, there has been a continual evolution in the instrumentation available for thermocycling and detection. An ever increasing toolbox of reagents and technologies has been contrived to meet the ever increasing and diverse needs and demands of the scientific and medical communities for both basic research and diagnostic applications. A historical reflection of these developments, current approaches, and future enhancements will be presented.

Main Session:   microRNA – siRNA Applications

Chair:   V. Benes / G. Shipley

Lecture hall   HS 14

Functional analysis of microRNA-containing protein complexes in human cells.

Meister G.

Max Planck Institute of Biochemistry, Germany

Email: meister@biochem.mpg.de

Small regulatory RNAs such as short interfering RNAs (siRNAs) or microRNAs (miRNAs) have been discovered in the past and it is becoming more and more apparent that these small molecules have key-regulatory functions. Such small RNAs are found in all higher eukaryotes and play important roles in cellular processes as diverse as cell differentiation, hormone secretion or stress response. SiRNAs guide sequence-specific cleavage of perfectly complementary target RNAs, whereas miRNAs associate with partially complementary target mRNAs and repress their translation. It is becoming more and more apparent that miRNAs can also influence the stability of mRNAs by guiding de-adenylation followed by mRNA decay. Interestingly, miRNA expression has also been associated with different diseases including neurodegenerative disorders as well as cancer. A detailed investigation and an accurate quantification of miRNAs in different tissues will therefore provide a better understanding of the molecular basis of such diseases and may ultimately lead to novel means of diagnosis.


MicroRNA profiling toolbox: points to consider.

Vladimir Benes, Mirco Castoldi, Sabine Schmidt, Martina Muckenthaler

EMBL, EMBL-University of Heidelberg Molecular Medicine Partnership Unit

Email: benes@embl.de

MicroRNAs (miRNAs) are now recognized as an important class of small RNA molecules that play an important role in the regulation of gene expression. Research into non-coding RNAs in particular miRNAs is currently one of the hottest yet challenging areas of molecular biology, in part due to the complex biogenesis of this class of molecules. Two main properties of these molecules, namely their length: being only ~22 nucleotides long and the high frequency of homology in each miRNA family contribute to making their analysis technically challenging.

This analysis requires highly specific assays that will allow reliable detection of individual members and also discriminate between mature (active) form and its precursor. In this presentation I will provide an overview of approaches currently utilised in miRNA analysis and will focus on two of them:

1) the locked-nucleic-acids based oligonucleotide microarray platform “miChip”, which has been developed in partnership with Matthias Hentze’s group and Exiqon, and qPCR for validation of microarray results and additional profiling of miRNAs detected by the miChip.

I will also discuss several points concerning preparation of samples for miRNA profiling in order to obtain robust profiles of miRNA expression.


Validation of Hits from an siRNA Library Screen Using Real-Time qPCR.

Shipley G.L.

The University of Texas Health Science Center-Houston, USA

Email: gregory.l.shipley@uth.tmc.edu

The use of siRNAs as a method to interrogate one or more key members of specific pathways involved in a biological process has become an invaluable tool. Working with a handful of siRNAs can easily be accomplished using classical laboratory procedures. However, with the advent of siRNA libraries targeting key classes of transcripts (kinases, phosphotases, nuclear receptors, etc.) not to mention genome wide siRNA libraries, the questions being asked and the methods required to perform large siRNA screens requires a different experimental approach. Ideally, one wants to be able to measure the biological process using either a biochemical or image-based assay while simultaneously measuring the degree of transcript knockdown by real-time qPCR. The most efficient way to screen the large numbers of siRNAs found in these libraries requires automation. However, the introduction of automation can present new challenges. Using an AR-YFP stable HeLa cell line, we have made great strides in automating the siRNA screening process for both an optimal biological assay and real-time qPCR readout. The challenges presented by this project and the solutions we have developed will be presented.

(micro)RNAome of human germ cell tumors: pathological and clinical implications.

Looijenga L.

Erasmus Medical Center Rotterdam, Netherlands, The

Email: l.looijenga@erasmusmc.nl

MicroRNAs (miRNAs) belong to the group of so-called non-coding RNAs, which function as endogeneous triggers of RNA interference (RNAi). RNAi is a natural cellular mechanism by which a hybrid between a mRNA and multiple miRNAs, resulting in double-stranded RNA sequences, are recognized as “foreign”. This results in degradation and/or inhibition of translation, thereby modulating the formation of protein. It has been demonstrated that proper embryonic development depends on a well-organized temporal and spatial expression of miRNAs, and many miRNAs are expressed in a tissue- and developmental stage-specific manner. miRNA also play a role in cancer development, and can act as oncogenes or tumor suppressor genes. Inactivation of P53 is supposed to be one of the crucial steps in the process of malignant transformation, because it allows cells to overcome cellular senescence, an irreversible stage of cell cycle arrest. This is supported by the observation that P53 is frequently inactivated in solid cancers. There are a limited number of exceptions to this rule, including the type II GCTs, i.e., the seminomas and nonseminomas. These originate from carcinoma in situ (CIS)/intratubular germ cell neoplasia unclassified (ITGCNU), being the counterpart of a primodial germ cell/gonocyte. The invasive tumors mimic early embryogenic development, and are in fact totipotent in nature. Overall, the type II GCTs contains wild type (WT) P53, which has been an issue of debate for years. This seemingly discrepancy between the need of P53 inactivation to allow the process of malignant transformation, and the P53 status in type II GCTs, is recently elucidated by us based on expression of a specific miRNA cluster (hsa-miR 371-373). These miRNAs are able to overrule the presence of wild type P53 in type II GCTs as well as derived cell lines. This allows the cells to overcome cellular senescence after oncogenic stress during their process of malignant transformation. This is another example of the impact of specific miRNAs in the process of malignant transformation. Based on this finding, we initiated a high-throughput expression analysis using quantitative PCR of a set of 157 as well as the 8 times 48 pools miRNAs in various types of GCTs and controls. The data obtained confirm the previous observation on hsa-miR 371-373, and demonstrate that the various histological GCT elements are, besides on the level of mRNA, also characterized by a specific pattern of expression of miRNAs.

Whole miRNA Profiling from Single Embryonic Stem Cell and early embryos.

Lao K.1, Tang F.2, Xu N.1, Livak K.1, Straus N.1, Surani A. M.2

(1) Applied Biosystems, California, US; (2) University of Cambridge, Wellcome CRC Institute, UK

Email: laokq@appliedbiosystems.com

MicroRNAs are short (17-25 nucleotides), non-coding RNAs that play critical roles in gene regulation and cellular differentiation during development. Recently developed miRNA micro-array techniques have contributed greatly to miRNA research but require too large an RNA sample to be used in many crucial studies, such as developmental studies involving primordial tissue samples from embryos or laser captured samples from developing tissues. Here we report a real-time PCR-based, 330-plex miRNA, expression profiling method that is sensitive and accurate enough to profile miRNA from samples as small as a single cell, such as an Embryonic stem cell. This technique will greatly facilitate miRNA-related research on stem cells and early embryos. It should also be of use in studies on carcinogenesis where only limited amounts of material is available from tissue biopsies or archived material.

Multi-Discipline Analysis of Gene Silencing: Complimentary use of Multiplex RT-qPCR, 2-D electrophoresis and Western blotting for RNAi based pathway analysis.

Teresa Rubio1, Katrina Academia2, Ning Liu2, Tim Wehr2, Steve Freeby2, Joseph Terefe1, Todd Yeck1, Aran Paulus2, Eli Hefner1 and Keith Hamby1, 1Bio-Rad Laboratories, Gene Expression Division, Hercules, CA and 2Bio-Rad Laboratories, Germany

Email: eli_hefner@bio-rad.com

RNA interference (RNAi) is a powerful tool used to modulate gene expression and to determine gene function. The activation of an RNAi pathway via delivery of small interfering RNAs (siRNA) into cells can result in the sequence-specific degradation of a messenger RNA (mRNA) and reduction of its corresponding protein product. The design of effective siRNA sequences in conjunction with efficient cellular delivery makes this a preferred tool for studying silencing and its effects. Analysis of gene specific silencing and subsequent changes in the expression of related genes and proteins is performed by assessing the levels of corresponding mRNAs or protein products. In this study, we demonstrate the effective downregulation of the cytoskeleton protein, β-actin, using specific 27-mer siRNAs and siLentFect Lipid Reagent in Hela cells. Subsequently, making use of 2-dimensional gel electrophoresis (2-DGE), Capillary LC-Nanospray and MS-MS, Western blotting and RT-qPCR we examine changes of expression profiles in response to β-actin gene silencing. We will present results of our analysis, showing changes in the expression level of several proteins, either directly or indirectly associated with actin filament function. Specifically, cofilin, an actin filament-disassembling factor, is found to be highly phosphorilated after b-actin downregulation. The complimentary use of these techniques facilitates rapid validation of 27-mer siRNA delivery and efficacy, screening for global changes in protein expression and multiplex validation of targets using qPCR techniques.


Comparison of endogenous control genes for normalisation of relative quantitative real-time PCR data in a study characterising microRNA expression in human breast cancer tissues.

Davoren P, Miller N, Lowery A, Mc Neill R, Kerin M.

National Breast Cancer Research Institute, Department of Surgery, Clinical Science Institute, University College Hospital, Galway, Ireland

Email: pamela.davoren@gmail.com

MicroRNAs act to negatively regulate gene expression at the transcriptome level. Aberrant expression of microRNAs has been observed in human proliferative diseases such as breast carcinomas, suggesting a possible role for these molecules in the regulation of tumour suppressor genes and oncogenes. Real-time quantitative PCR (q-PCR) is now being applied to the profiling of microRNA gene expression. To correct for variables such as amount of starting template and enzymatic efficiencies, q-PCR data is commonly standardised to an endogenous control gene which has stable expression across the sample set. Validating an endogenous control gene in the context of the relevant experimental settings is necessary to ascertain whether the level of expression of that gene varies beyond an acceptable level between samples.

This study aimed to validate the use of an endogenous control gene for the normalisation of microRNA q-PCR data in human breast cancer tissues. The expression of five microRNAs (let-7a, miR-10b, miR-16, miR-21 and miR-26b) and two small nuclear/nucleolar RNAs (RNU48 and Z30) was examined across 26 breast tumour samples, 5 benign breast tissues and 5 normal breast tissues. A 2-step q-PCR reaction was used, the reverse transcription step utilising a stem-loop primer specific to each candidate RNA and the PCR step employing TaqMan probes (Applied Biosystems). All q-PCR was performed on the ABI Prism 7000 Sequence Detection System. Intra- and inter- assay variations were all ≤ 0.3 standard deviations of a cycle threshold value. The two most stably-expressed candidate endogenous control genes, as determined by GeNorm (1) and Normfinder (2), were used to normalise the qPCR data for the target gene miR-30a-3p.

GeNorm and NormFinder both identified the same single endogenous control gene as being the most stably-expressed. The analysis methods differed in their secondary choice of genes, perhaps indicative of the different models used in each system. The relative quantity of miR-30a-3p did not differ significantly when normalized using the most stable gene alone or using NormFinder’s best combination of genes (p>0.05). Using the most stable gene alone and using GeNorm’s recommended combination of genes for normalisation did significantly change the relative quantity of miR-30a-3p (p=0.001) so consideration should be given to using this combination of genes for a more robust normalisation.


Characterization of miRNA expression in hESC lines using NCodeTM SYBR GreenER miRNA qRT-PCR.

Uma Lakshmipathy1, Mark Landers1, Sam An1, Brandon Nelson2, Mark Mercola2, Ron Hart 3, and Christopher Adams1

1Invitrogen Corporation, Carlsbad, CA, 2Burnham Institute for Medical Research, La Jolla, CA and 3Rutgers University, Piscataway, NJ

Email: mark.landers@invitrogen.com

MicroRNAs (miRNAs) are 19-25 nt non-coding RNAs that regulate gene expression by inhibiting translation or triggering degradation of specific mRNA targets. miRNAs appear to play a critical role in directing cellular differentiation. Unique microRNA expression profiles can be associated with specific cell types and stages of cellular development. Further, miRNA expression profiles can vary between undifferentiated cell lines. The NCode™ miRNA Analysis Platform provides an integrated solution for miRNA profiling including tools for miRNA purification, amplification, qRTPCR quantitation, a multispecies microarray and labeling kit. Using the NCodeTM SYBR GreenER miRNA qRTPCR system , we validated global miRNA expression profiles from several hESC lines in comparison to each other, hEC lines and their embryoid bodies. We were able to quantitate changes in miRNA expression from various cell lines by determining the fold difference from hEC values for critical differentiation markers. Additionally, we profiled differentiated cardiac cell lines vs. their undifferentiated progenitor cells by qRTPCR to validate cardiac specific miRNA expression patterns.

 

High-throughput RNAi Phenotype Analysis for Cancer Drug Target Identification and Validation by qPCR.

Sukru Tuzmen, Cumhur Ekmekci, Pinar Tuzmen, Felisa Blackmer, Holly Yin, Quick Que, Jeff Kiefer, David Azorsa, and Spyro Mousses

Translational Genomics Research Institute (TGen), United States of America

Email: stuzmen@tgen.org

Quantitative real-time PCR (qPCR) is now widely used owing to its simplicity, wide dynamic range of quantification, sensitivity, and precision, for accurate evaluation of gene expression. We describe here a qPCR process to validate specific gene silencing triggered by short interfering RNAs (siRNAs). RNA interference (RNAi) has become a widely used tool for determining the correlation between loss-of-function phenotypes and individual genes. Commercially available RNAi libraries have made high-throughput genome-scale screening a feasible methodology for studying mammalian cell systems. However, it is crucial that any observed phenotypic change be confirmed at either the mRNA and/or protein level to determine the validity of the targeted genes. Mimicking the natural gene silencing mechanisms of RNA interference (RNAi), synthetic siRNAs can be used to induce sequence-specific degradation of transcripts homologous to siRNAs. We have used synthetic siRNAs (Qiagen Inc., Germantown, MD) to study the function of genes by transfection into mammalian cells in a high-throughput manner. For siRNAs that trigger a phenotype, we used qPCR assays that have been designed specifically for validating transcript levels following RNAi based gene silencing. The TaqMan fluorogenic 5’ nuclease assay (ABI Inc.) has been found to be convenient, and sensitive for our target validation. Our results indicate a batch-to-batch consistency of this assay as well as consistency among sample replicates. In conclusion, this study presents an efficient and a reproducible method to validate RNAi gene knockdowns.


A new method for separation and characterization of Small RNA by On-Chip Electrophoresis.

Martin Greiner 1, Marcus Gassmann 1, Marc Valer 2, Hans Brunnert1

1Agilent Technologies, Waldbronn, Germany; 2Agilent Technologies Inc., Santa Clara, USA

Email: martin_greiner@agilent.com

A multitude of microRNAs has been discovered in the genomes of animals and plants, but they are only beginning to be classified by their functional roles. One of the major drawbacks is the lack of adequate analytical methods for the analysis of small RNA samples and understanding on how RNA integrity and different purification protocols affect its qualitative and quantitative analysis.

Here we describe a novel Microfluidic assay that is able to perform very sensitive high resolution analyses of small RNA samples on a commercial lab-on-a-chip platform commonly used for RNA QC analysis. The assay delivers information about size and concentration of small RNA species like miRNA, siRNA, t-RNA etc, in the range from 10 to 150nt. Purified or enriched small RNA fractions, as well as total RNA samples with miRNA concentrations down to 50 pg/µl can be analyzed.

 
 

Main Session:   Single Cell qPCR

Chair:   M. Kubista / B. Rocha

Lecture hall   HS 14

Large Scale Cell-to-cell Variations in Gene Expression.

Raj A and Tyagi S.

Public Health Research Institute, Newark NJ, United States of America

Email: sanjay@phri.org

Biologists usually grind up a tissue, extract its RNA and obtain its gene expression profile. These profiles represent the average number of mRNA molecules present in each cell. We have found that the numbers of mRNA molecules expressed by different cells of an identical genotype are so different from each other that very few cells correspond to the reported averages. Using an in situ hybridization procedure that has a single molecule resolution we were able to explicitly count the number of molecules of specific mRNAs produced in each cell in a population of cells. We found evidence for large-scale cell-to-cell variations. Akin to the gene expression "noise" previously reported in the prokaryotes and yeast, these variations stem from the nature of transcription in higher eukaryotes, which our results indicate, occurs in bursts. Randomness in the onset and dissipation of these bursts of mRNA synthesis, in combination with the short life-time of mRNA, results in these variations. The bursts of mRNA synthesis in different genes occur independently of each other. The origins of this stochastic mRNA synthesis may lie with the unique mechanisms that open up chromatin context of the gene and render it conducive for mRNA synthesis and later sequester the gene to turn off the synthesis.

If the magnitude of the observed variations is so large then how are cells are able to maintain their relatively constant phenotypes? Part of the answer is that proteins generally stay around in the cell longer then the mRNAs do. The preexisting pools of proteins receive periodic inputs from the transient bursts of mRNA production. Since the size of the protein pools is relatively large it is buffered against the variations in mRNA levels. Thus the levels of proteins vary less then the levels of mRNAs between cells. However, the life-times of proteins vary a lot and the levels of short-lived proteins must be determined by the variations in the levels of their respective mRNAs. To cope with such variations organisms may have developed other yet unidentified mechanisms. In some situations these variations will even be beneficial, as they will serve as an extragenetic substrate for adaptation to the transient variations in the environment.


Single cell microRNA and mRNA profiling reveals global gene expression changes during mouse ES differentiation.

Ruoying Tan 1, Leila Bahreinifar 1, Dana Ridzon 1, Karl Guegler 1, William Strauss 2, Caifu Chen 1

1Applied Biosystems, 850 Lincoln Centre Dr., Foster City, CA 94404, USA and 2Department of Molecular, Cellular, & Developmental Biology, University of Colorado, Boulder, CO 80309, USA

Email: Ruoying.Tan@appliedbiosystems.com

We describe a new method for simultaneously quantifying 237 mouse microRNA (miRNA) and 21 messenger RNA (mRNA) genes from each of 70 single cells. The method is based on multiplex RT, multiplex preamplification, and singleplex real-time TaqMan® PCR assays. Assays are quantitative for > 3-log dynamic range. Single cell expression signature could classify individual ES, embryoid body (EB), and somatic cells. Significant inter-cell variations of both miRNA and mRNA expression were observed within or between ES cell lines, indicating the heterogeneity of ES cells. Highest variability was observed among EB cells (CV = 139%), demonstrating that EB cells undergo differentiation at different stages. Interestingly, expression of ES marker gene OCT4 and signaling gene Tdgf1 was absent in 3T3 and splenocyte cells, highly expressed in ES cells, and significantly reduced in EB cells. Furthermore, there is no correlation in expression levels between miRNAs and their predicted target mRNAs, supporting translational repression model. Our results gain new insight of both miRNA and mRNA expression patterns at a single cell level.


Duplex RT-LATE-PCR reveals transcript gradients in sets of single cells recovered from 8-cell mouse embryos.

Cristina Hartshorn, Odelya Hartung and Lawrence J. Wangh.

Biology Dept., Brandeis University, Waltham, MA, USA

Email: hartcris@brandeis.edu

The formation of two distinctive cell lineages in preimplantation mouse embryos is characterized by differential gene expression. The cells of the inner cell mass (ICM) are pluripotent and express transcripts such as Oct4 RNA, which are down-regulated in the surrounding, differentiated trophectoderm (TE). Conversely, other genes are active in the TE and silenced in the ICM. These include Xist (expressed only in females) and Cdx2 (in both sexes). Prior to blastocyst formation, all these RNAs are ubiquitously found in blastomeres of embryos at the 8-cell stage. It is plausible, however, that transcript levels differ among blastomeres of the same embryo, and that these quantitative differences may presage the fate of their daughter cells. Testing this hypothesis presents numerous technical challenges because it requires simultaneous quantification of different RNAs in sets of single cells isolated from the same embryo. We have overcome these difficulties by combining PurAmp, a single-tube method for RNA preparation and quantification, with LATE-PCR, an advanced form of asymmetric PCR. We initially constructed a duplex RT-LATE-PCR assay for real-time measurement of Oct4 and Xist templates and confirmed its specificity and quantitative accuracy using both biological samples and analysis of the LATE-PCR fluorescent signals. The linear slope of these signals is a sensitive tool to establish that amplification has been achieved with comparable efficiency for all templates analyzed. The Oct4/Xist duplex was an ideal test system, because comparison of data from males and females allowed us to determine that, due to the properties of LATE-PCR, Oct4 amplification was unaffected by sex-related differences in Xist expression (females: Oct4 +, Xist ++; males: Oct4 +, Xist -).

Our results show that both Oct4 and Xist RNA levels vary in individual blastomeres comprising the same embryo, with some cells having particularly elevated levels of either transcript. This is significant because all cells in the 8-cell embryo are believed to be developmentally equivalent. Our data also indicate that Xist and Oct4 expression levels are not correlated at this stage, although transcription of both genes is up-regulated at this time in development. We have now developed an additional assay for simultaneous measurements of Oct4 and Cdx2 RNA, in light of recent findings that these two genes are reciprocally regulated.

This work describes the first example of RT-LATE-PCR and its utility for single-tube, multiplex quantitative analysis of transcripts in single cells. Levels of different RNAs can be accurately measured independently of their relative abundance; this is not possible with symmetric PCR. The techniques illustrated here are widely applicable, for instance to gene expression analysis in stem cells and cancer cells and to preimplantation genetic diagnostics. We are also employing these strategies for multiplex quantitative end-point detection of RNA viruses.


Gene expression or SNP profiling from picograms of RNA using Multiplexed Tandem PCR.

Stanley K.

Corbett Life Science, Australia

Email: keith.stanley@corbettresearch.com

MT-PCR is a 2-step PCR process for gene profiling or mutation detection. It can be configured to produce a gene expression profile of up to 96 genes from 50 ng of RNA down to 10 pg of RNA enabling gene profiles to be obtained from a single section of formaldehyde fixed paraffin embedded specimens (1 to 10 ng) or from single cell amounts of RNA (about 10 pg). Separating the PCR reaction into 2 steps allows optimum conditions to be used for amplification of rare templates during the multiplexed preamplification cycles and conditions that minimise primer dimer formation during the quantification stage.

Expression is first normalised against one or more housekeeping genes included on the MT-PCR-disc, and then between genes on the experimental and control discs. The correlation of MT-PCR gene expression measurements to qPCR results, or of MT-PCR results with 100 fold different amounts of input RNA were both > 0.9. The coefficient of variation between assays performed on different days was 3% (in the Ct value) for cell line RNA (10 experiments) and 8% for FFPE sections (5 different sections).

When coupled with High Resolution Melt analysis, MT-PCR can be used to perform multiplexed SNP analysis from single cell quantities of RNA.


Quantitative RT-qPCR of individual dopaminergic neurons from vital and fixed tissues.

Birgit Liss

Physiology, Philipps University of Marburg, Germany

Email: liss@staff.uni-marburg.de

Dopaminergic (DA) midbrain neurons are arranged within two overlapping nuclei, the ventral tegmental area (VTA) and the more lateral substantia nigra (SN). Their function is crucial for the control of voluntary movement, reward-based behavioral decision making as well as for cognition and memory. Consequently, selective degeneration or functional dysregulation of DA neurons are causally involved in common human disorders like Parkinson disease (PD), drug addiction, and schizophrenia. We aim to identify differentially expressed genes and related cellular mechanisms that define different physiological and pathophysiological functions in specific subpopulations of DA midbrain neurons.

We currently focus on molecular mechanisms that determine the differential vulnerability of DA neurons, a hallmark of Parkinson disease and its chronic animal models. To analyse dopaminergic function and gene-expression at the level of the individual neurons, we combine electrophysiological patch-clamp techniques in living mouse brain slices, or UV-laser-microdissection (LMD) from fixed human or mouse brain-cryosections with quantitative real-time RT-PCR approaches. In a hypothesis-driven approach, we focus on the role of ion channels in the pathophysiology of the DA midbrain system. Already under physiological control conditions DA neurons in SN and VTA display a variety of distinct electrophysiological properties, which are correlated with qualitative and quantitative differences in mRNA expression-levels of related ion-channel subunits. Furthermore, we could demonstrate that differences in ion channel expression and activity are crucial for the differential survival of DA midbrain neurons in chronic neurodegenerative disease. In particular, we showed that the selective electrical silencing of DA SN neurons via ATP-sensitive potassium (K-ATP) channels was correlated with higher mRNA expression-levels of K-ATP channel subunits and lower mRNA levels of the mitochondrial uncoupling protein UCP-2. To identify candidate genes for differential vulnerability of DA neurons in an unbiased manner, we carried out single-cell microarray studies that resulted in a list of about sixty candidate genes that were differentially expressed between individual SN and VTA DA neurons. We successfully validated the majority (75%, n=15 of 20) of selected candidate genes from our single-cell microarray studies by defining their expression levels in selective and non-amplified cDNA pools of laser-microdissected SN and VTA DA neurons, respectively via quantitative RT-PCR. In a complementary approach, we are currently studying quantitative gene expression of human SN DA neurons from post mortem brains of idiopathic PD-patients and respective matched controls by combining LMD and real-time PCR as described above. Data of these studies will be presented and methodological issues for RT-qPCR analysis in particular of human post mortem material will be discussed.


Intracellular expression profiles in the Xenopus laevis oocytes revealed by quantitative real-time PCR.

Radek Sindelka 1, Jiri Jonak 1, Rebecca Hands 2, Stephen A Bustin 2, Mikael Kubista 1,3

1IMG AS CR, Czech Repbulic, 2Institute of Cell and Molecular Science, Royal London Hospital, United Kingdom and 3TATAA Biocenter, Sweden

Email: sindelka@img.cas.cz

Cell determination during early development directly depends on mRNA and protein cell content and distribution. In mammalian cells, mRNA profiling is limited by small amounts of RNA. In contract, a Xenopus egg contains very large amount of mRNA, which opens for expression studies on the sub cell level. Here, we quantified mRNA levels of several selected maternal genes in different sections of the Xenopus egg. We determined the amount of these mRNAs in egg sections along the animal-vegetal axis by real-time RT-PCR. The experiments were performed on eggs before and after fertilization. Based on these results a 3D map of key mRNAs in a single Xenopus egg cell will be constructed, that will give clues to the relation between mRNA distribution and cell division and ultimately differentiation.


Systematic Analysis of single cells by PCR.

Mann W.

Advalytix AG, Germany

Email: mann@advalytix.de

Advalytix has developed a new single cell amplification platform. The AmpliGrid is a microscope slide with a chemically modified surface in order to define 48 reaction centers based on hydrophilic / hydrophobic structuring. On each of the reaction sites a 1µl amplification reaction can be set up. In contrast to conventional tube assays single cells can be deposited and quality checked immediately before the amplification reaction (that might be PCR, RT-PCR, etc). Combining HT methods like FACS sorting result in a systematic genetic analysis of single cells for various applications. Based on the systematic analysis of single cells Advalytix has developed a technique called ABC (amplification based counting) that makes use of the fact that in multiplex PCR there is a correlation between the number of drop outs and the number of identical target sequences that have been introduced as starting material. In single cells it is now possible to distinguish discrete numbers of DNA or RNA sequences in an absolute manner.

Detection and quantification of mRNAs in single human embryonic stem cells.

Ståhlberg A. Bengtsson M. Semb H.

Stem Cell Center, Lund University, Sweden

Email: anders.stalberg@med.lu.se

Human embryonic stem cells (hESCs) are pluripotent cells derived from the inner cell mass of the blastocyst. They are unique self-renewing cells that have the capacity to generate any cell type in the body. This capability provides the basis for considering the hESCs as an unlimited source of cells for replacement therapies and for the treatment of a wide range of diseases such as diabetes mellitus, Parkinson and Alzheimer diseases. Our aim is to develop new research tools to enable a better validation and understanding of the sequential differentiation of pluripotent hESC into definitive endoderm, pancreatic β-cell precursors, and finally -cells. Undifferentiated hESCs requirebinto terminally differentiated  expression of NANOG, POU5F1 (also known as OCT4) and SOX2 to maintain their unique characteristics. To date most transcriptome analyses on hESCs have relied on measurements from cell populations, thereby not revealing how the expression of NANOG, POU5F1 and SOX2 influence differentiation at a level of single cell. To further our understanding of the means by which these transcription factors control the pluripotency and self-renewal of hESCs, we have performed quantitative gene expression studies of individual cells. Accurate single cell gene expression measurements require sensitive and robust assays. We have evaluated and optimized all steps from cell collection to data analysis for accurate single cell gene expression measurements. We apply this method for investigation of population heterogeneity, single cell correlations and transcript distributions.


Molecular portraiting of normal and tumor human breast stem cells.

Pece S.1, Confalonieri S.2, Vecchi M.2, Matera G.1, Ronzoni S.1, Tizzoni L.2, Bernard L.2, Pelicci P.G.1, and Di Fiore P.P.2

1IEO (Istituto Europeo di Oncologia), Milan, Italy and 2FIRC Institute for Molecular Oncology (IFOM), Milan, Italy

Email: salvatore.pece@ifom-ieo-campus.it

A prediction of the stem cell theory of breast cancer is that complete elucidation of the normal stem cell biology will be instrumental to gain insights into breast carcinogenesis. Given the lack of specific human breast stem cell markers, we devised a strategy based on the ability of breast stem cells to generate clonally-derived ‘mammospheres’ ex vivo, in combination with the use of a ‘surrogate’ marker, the PKH26 cell linker, which stably incorporates a fluorescent dye into the lipid regions of the plasma membrane. The strength of this approach is that stem cells are not defined phenotypically, i.e. using cell surface markers, but functionally through their intrinsic property to be slow-dividing. In fact, they accumulate the PKH26 dye and remain the most intensively fluorescent cells within mammospheres, whereas their actively dividing and differentiating progeny progressively loose fluorescence through dilution of the membrane-bound dye. We used FACS analysis to sort the most highly fluorescent cells, comprising the strict-sense stem cells, from the progeny of committed progenitors. Functional analysis of the different fractions confirmed that only the PKH26+ cells exhibited key defining features of ‘stemness’, such as: i) self-renewal property (re-formation of mammospheres upon serial passages in vitro); ii) ability to generate both epithelial and myoepithelial histotypes, as determined with specific lineage markers; iii) formation of alveolar/ductal-like outgrowths in vitro. Using oligonucleotide-based arrays (Affymetrix), we obtained trascriptional profiles of the two populations separated by their differential epifluorescence. The comparative analysis of genes differentially regulated by a factor ≥2 uncovered many distinguishing features between the two PKH26 populations, strengthening the notion that we indeed separated stem cells from their differentiating progeny. Selected candidate hits were further validated by Q-RT-PCR using a multiplex reaction with pooled 96 Taqman gene expression assays (Applied Byosystem) as a source of primers in a pre-amplification reaction, followed by a Taqman low density array experiment. This approach confirmed that genes associated with an immature and quiescent state (‘stemness’) were associated with PKH26+ cells. In contrast, PKH26- cells over-expressed transcripts associated with proliferation, cell cycle progression and checkpoint control together with markers of myoepithelial/epithelial differentiation. In conclusion, we set up a strategy for the functional characterization and molecular portraiting of normal (and tumor) breast stem cells, with the ultimate goal to highlight the molecular mechanisms controlling normal and aberrant morphogenetic programs.


Quantification of multiple gene expression in individual cells.

Antonio Peixoto, Marta Monteiro, Benedita Rocha, Henrique Veiga-Fernandes

INSERM U591, Faculty of Medicine Paris 5 René Descartes, France

Email: rocha@necker.fr

Quantitative gene expression analysis aims to define the gene expression patterns determining cell behavior. So far, these assessments can only be performed at the population level. Therefore, they determine the average gene expression within a population, overlooking possible cell-to-cell heterogeneity that could lead to different cell behaviors/cell fates. Understanding individual cell behavior requires multiple gene expression analyses of single cells, and may be fundamental for the understanding of all types of biological events and/or differentiation processes. We here describe a new reverse transcription-polymerase chain reaction (RT-PCR) approach allowing the simultaneous quantification of the expression of 20 genes in the same single cell. This method has broad application, in different species and any type of gene combination. RT efficiency is evaluated. Uniform and maximized amplification conditions for all genes are provided. Abundance relationships are maintained, allowing the precise quantification of the absolute number of mRNA molecules per cell, ranging from 2 to 1.28 x 10(9) for each individual gene. We evaluated the impact of this approach on functional genetic read-outs by studying an apparently homogeneous population (monoclonal T cells recovered 4 d after antigen stimulation), using either this method or conventional real-time RT-PCR. Single-cell studies revealed considerable cell-to-cell variation: All T cells did not express all individual genes. Gene coexpression patterns were very heterogeneous. mRNA copy numbers varied between different transcripts and in different cells. As a consequence, this single-cell assay introduces new and fundamental information regarding functional genomic read-outs. By comparison, we also show that conventional quantitative assays determining population averages supply insufficient information, and may even be highly misleading.


Quantitative PCR of heterogeneous tissue: Lessons from the islets of Langerhans.

Martin Bengtsson1, Anders Ståhlberg1, Patrik Rorsman2

1Lund University, Sweden and 2University of Oxford, UK

Email: martin.bengtsson@med.lu.se

The islets of Langerhans reside in the pancreas where they serve as the glucose sensor of the body, making sure the blood glucose concentration stays within a healthy range. This regulation fails in patients with diabetes. Each islet consists of approximately 1000 cells, of which ~80% are insulinproducting b-cells, ~20% glucagonsecreting a-cells and ~5% somatostatinreleasing d-cells. The functions of these cells are fundamentally different, and studies of them require either cell sorting or single cell analysis. In our search to reveal cellular mechanisms and find possible therapeutic targets for diabetes treatment we developed a method for quantitative mRNA measurements in individual mammalian cells using RT-PCR. We took great care to maximize the robustness, reliability and efficiency of the method. For example, we evaluated the need for – and choice of – cell lysis buffer and heat treatment. We investigated the accuracy of the quantification, thereby defining a limit at which the technical variation exceeds the biological variation. These results, together with data from glucose stimulation of islet cells, will be showed in the presentation.

Islet cells are electrically active. Ion channels play a fundamental role in hormone release and several types of diabetes are caused by dysfunctional ion channels. In collaboration with Applied Biosystems, we combined electrophysiological recordings, single cell collection and the TaqMan® PreAmp Master Mix Kit on individual islet cells. The preamplification allows us to measure hundreds of genes from a single cell, and we investigated the isoforms of sodium ion channels in a- and b-cells. The results revealed cell-type specific expression of sodium channel isoforms and correlations to Na2+-currents measured with patch-clamp.


Quantitative real time PCR for single tumor cell based diagnostics.

Kemming, D. Meyer-Staeckling, S. Alpers, I. Brandt, B.

UKE Hamburg, Germany

Email: d.kemming@uke.uni-hamburg.de

One third of annually 50,000 newly diagnosed breast cancer patients will die from metastases. However, the individual risk for metastases is still estimated statistically by parameters determined on the primary tumor yet. We and other research groups have shown that breast cancer patients harbor single disseminated tumor cells (DTC) in their bone marrow or peripheral blood even in the absence of lymph-node involve-ment (stage N0) or distant metastases (stage M0) at the time of primary surgery. The detection of aberrations of key oncogenic genes could enhance the specificity and may lead to the identification of the potential founder cells of metastases.

In consequence, we developed a method for the isolation and real time PCR based characterization of tumor cells. The cells to be analyzed are transferred under micro-scopic control selectively on hydrophobic coated glass slides carrying lysis buffer in a spot. The surface ensures that the genetic material can be completely removed after the cell lysis. This lysate is subsequently subjected to isothermal whole genome am-plification (WGA). As a test system MDA-MB-468 and SK-BR-3 cells were used, ge-nomic leukocyte DNA was used as reference material. MDA cells show a strong am-plification of the EGF receptor gene while SK-BR-3 cells show a low level amplifica-tion of this gene. Single cell WGA products were used to analyze EGFR gene ampli-fication by real time PCR. The copy number of the SOD2 gene was used as refer-ence. In order to test if WGA products reflect the genomic situation of the tumor cells, EGFR gene copy numbers were compared between WGA products and tumor cell DNA. Using two different cell lines, we were able to determine similar genomic altera-tions in the WGA products and in the unamplified material.

The specificity of the method was confirmed by sequencing and microsatellite analy-ses. A cell of a cell line harbouring two known mutations in the tp53 gene was sub-jected to the single cell picking/WGA procedure. Both mutations were found using the genetic material isolated from the single cell. PCRs targeting microsatellites on chro-mosome 7, 8, 10, 13, 16 and 17 were performed to ensure the amplification of the entire genome.

Therefore this method might be suitable for more detailed examinations of bone marrow and blood from cancer patients.


Heterogeneity in complex tissues identified by quantification of nucleic acids in single cells.

Philip Day1,2, Lin Chen1, Pierre-Alain Auroux2, Stephan Mohr2, Nicholas Goddard2, Andreas Manz1 and Peter Fielden2.

1Analytical Sciences, ISAS, Dortmund, Germany and 2University of Manchester, UK

Email: philip.j.day@manchester.ac.uk

Real-time quantitative and conventional end-point polymerase chain reaction (PCR) are ubiquitously applied in gene-based assays, however routine reproducibility is limited by intrinsic technical limitations. These restrictions include poor compatibility to study low transcript number amongst a high background of other nucleic acids, analysis of several targets from minute biopsy samples, single cell analyses, plus additional constraints relating to time, expense and risk of cross-contamination.

PCR micro total analysis systems (μTAS) devices can circumvent these drawbacks. Two uTAS concepts are to be presented. In the first, a novel approach is based on a shunting system where an aqueous sample plug is shunted from one temperature zone to another by a syringe pump system, and benefits from reaction parallelisation. A second more advanced system engages the application of flowing streams of aqueous nanolitre droplets for use in single cell PCR. Cell lysis, reagent mixing, thermal cycling and microfabricated real-time optics have been developed. These will ultimately derive μTAS devices for very high throughput uses and more robust inter-laboratory standardisation.

Data is presented revealing that quantification of nucleic acids via PCR has a mandatory requirement to employ miniaturisation, and that this will assist in functionally relating numbers of copies of analyte nucleic acid to single cell type and decipher the cell composition of heterogeneous tissues.


Session:   Immuno - qPCR

Chair:   HHD. Meyer / C. Niemeyer

Lecture hall   HS 14

Immuno-qPCR: Novel Opportunities in Clinical Diagnostics and Research.

Niemeyer C.

Universität Dortmund, Germany, FB Chemie, Biologisch-Chemische Mikrostrukturtechnik, Otto-Hahn Str. 6, D-44227 Dortmund, e-mail: christof.niemeyer@uni-dortmund.de

Email: sekretariat-bcmt.chemie@uni-dortmund.de

The Immuno-qPCR technology combines the advantages of flexible and robust immunoassays with an exponential signal amplification, typical for PCR [1]. Immuno-qPCR is based on chimeric conjugates of specific antibodies and nucleic acid molecules, the latter of which are used as markers to be amplified by PCR for signal generation. The enormous efficiency of nucleic acid amplification typically leads to a 100 – 10,000 fold increase in sensitivity, as compared with the analogous enzyme-amplified immunoassay. We have developed a proprietary detection and screening technology focused on the analysis of low abundant and hardly detectable biomarkers. This technology is being commercialized under the trademark Imperacer™ by the Dortmund based company Chimera Biotec. Imperacer™ services and products are designed for R&D, screening, monitoring, QC and a broad range of indications, such as CNS disorders, cancer, infectious diseases, auto inflammation, doping control, and others.

The lecture provides an overview on the scope and performance of the Imperacer™ Immuno-qPCR technology, including detailed discussions of experimental parameters, such as sensitivity and dynamic range, sample requirements, and tolerances against matrix effects in the detection of various biomarkers, including drug candidates, small-molecule hormones, cytokines, tumormarkers, viral proteins, and others.


Use of Immuno-qPCR for quantifying proteins in large-scale TAP-tag collections.

Lind K. and Norbeck J.

Chalmers University of Technology, Gothenburg, Sweden

Email: kristina.lind@chalmers.se

In recent years, the sequencing of several eukaryotic genomes has paved the way for truly large-scale experimental approaches. Both for our understanding of the biological process in cells and for the development of new drugs. Saccharomyces cerevisiae, was the first completely sequenced eukaryot and is a widely used model organism. Several genome-wide collections have been constructed in S.cerevisiae, e.g. a set of gene-deletions covering all non-essential genes, GFP-tag (Green Fluorescent Protein-tag) collections and TAP-tag (Tandem Affinity Purification-tag) collections for essentially all 6000 genes. The GFP-collection has been used in combination with flow cytometry (FACS) to quantify the expression of all tagged proteins. Similarly, the TAP-tag collection has been used in combination with western blotting for protein quantification. Both these approaches have serious drawbacks, the GFP-approach suffers from a rather high detection limit and the TAP-tag approach is limited by the difficulties associated with protein extraction and western analysis (e.g. difficulties in background subtraction and lack of linearity because of saturation of signal). Thus, there is a need for development of more sensitive and reliable protein quantification methods suitable for large-scale analysis.

We have adapted the immuno-qPCR assay, previously used by us for quantifying prostate specific antigen (PSA), for quantification/detection of the TAP-domain. Briefly, we utilize an affinity purified chicken antibody raised against protein A (which is present in two copies in the TAP-tag) as both capture and DNA-conjugated detection antibody. The immuno-qPCR-detection of the TAP-tag is a sensitive method with a large quantification range that combines the molecular specificity of antibodies with the DNA amplification power of PCR. Using real-time PCR there is no need for gel electrophoresis which makes the assay time short. A drawback however, compared to western blot analysis, is that no information about protein modifications or breakdown products is gained using immuno-qPCR. We envisage that our assay, when combined with automated sample handling, can be used to sensitively quantify essentially all yeast proteins under a variety of conditions. Furthermore, our TAP-assay is not restricted to use in yeast, the TAP-tag has proven its worth in organisms ranging from E.coli to humans.

With this newly developed assay we have analysed the expression of a number of proteins in yeast grown on YPD or YPD plus 1 M NaCl and compared it to published data from 2D-PAGE and a large scale western approach. The correlation to the 2D-PAGE data was good while the correlation to western data (restricted to YPD-growth) was more problematic. We will discuss the reasons for this.


Immuno-Real Time-PCR as a sensitive diagnostic tool: case of prion proteins.

Ruelle Virginie and ElMoualij Benaissa

Center of research on Prion Proteins, University of Liège, 4000, Belgium

Email: v.ruelle@ulg.ac.be

Prion diseases such as Creutzfeldt-Jakob of human, scrapie of sheep and bovine spongiform encephalopathy of cattle are fatal neurodegenerative disorders characterized by behavioural and locomotor changes, cerebral amyloid plaques and spongiform degeneration of the brain1. Prion diseases are caused by tertiary conformational change of the normal form of prion protein (PrPc) in host cells to the pathologic form (PrPsc) and its accumulation in central nervous system2.

The conformational change of the pathologic form confers to it a partial protease resistance property being very convenient to distinguish the two prion forms, normal and pathologic. Actually, different rapid detection kits are approved by the European Community for a systematic diagnosis of bovine spongiform encephalopathy and scrapie, by screening the brain stem at the post-mortem stage3. These detection kits are very efficient to detect prion protein at the post-mortem stage and permitted to warrant the safety of the bovine and sheep production. However, other ultra-sensitive methods need to be developed to allow an early detection of prion protein for living animals.

In this study, the immuno-quantitative-Polymerase chain reaction (iqPCR)4 was applied to detect ultra-low levels of prion protein. This technique combines the sensitivity of PCR, by an exponential amplification of reporter DNA, and the specificity of the detection of antigens, by antibodies in an ELISA format5-6. To illustrate the advantages of iqPCR, we have compared it with a conventional ELISA and western blotting technique in experiments aimed at detecting the resistant form of prion protein in bovine and human brain extract. Using iqPCR, a minute quantity of prion was detected with a detection threshold at least 10-fold lower than classical techniques. The iqPCR could therefore be potentially useful for the detection of prion protein at early stage.


Feasibility of simultaneous measurements of mRNA expression and corresponding protein level in microdissected tissue samples by real-time technology: PSA in normal and tumour tissues as a demonstrative model.

Pamela Pinzani 1, Kristina Lind 2, Francesca Malentacchi 1, Francesca Salvianti 1, Mikael Kubista 3, Mario Pazzagli 1, Claudio Orlando 1.

1Department of Clinical Physiopathology, Clinical Biochemistry Unit, University of Florence, Italy, 2Department of Chemistry and Bioscience, Chalmers University of Technology, Gothenburg, Sweden and 3TATAA Biocenter AB, Gothenburg, Sweden

Email: p.pinzani@dfc.unifi.it

Laser assisted microdissection (LAM) has been introduced extensively in cancer molecular biology studies with the aim of selecting pure cell populations from heterogeneous tissues. New technologies in the field of LAM can thus overcome the problem of cellular heterogeneity that represents a significant barrier to the molecular analysis of normal and pathological tissue (Simone et al 2000). Moreover, it allows molecular analysis of cell populations in their native tissue environment and it may be potentially applicable to biopsies obtained in preoperative diagnostic procedures. Several attempts have been made in order to determine whether mRNA levels could be used to accurately predict protein levels in tissue sample extracts (Hiser et al. 2006). Results obtained for different proteins gave either positive or negative results (Gygi et al. 1999; Nicoletti et al. 2001) with an additional and intrinsic limitation due to the relative lack of sensitivity of the actual methods used for protein measurements.

Recently, immuno qPCR has been developed as a new tool for the measurement of proteins levels with up to 1000-fold increase of detection limit compared to the commonly used immunoassay. It is based on the use of a real-time PCR detection of the immuno-complex generated in the immunoassays. It has been applied to the measurement of protein in serum and plasma samples, but until now no evidence has been reported on microdissected tissues.

In this study, prostate-specific antigen (PSA) mRNA expression data were generated from microdissected primary prostate cancers and corresponding normal tissues by real-time RT-PCR. To calculate the expression of PSA mRNA in each microdissected sample, we referred to an external reference curve generated with synthetic cDNA obtained by cloning the target in the expression vector pcDNA3.1/CT-EGFP-TOPO (Invitrogen). PSA protein determinations were performed at Chalmers University of Technology (Gothenburg, Sweden) on tissue samples microdissected from areas of serial tissue sections paired to those used in gene expression measurements following the immuno qPCR procedure already reported by Lind K et al (2005). Linear regression analysis between PSA mRNA copies and protein molecules in normal and tumour samples was statistically significant for both sets of data. The Pearson coefficient resulted R=0.782 (p=0.006) for normal microdissected tissues and R=0.667 (p=0.041) for tumour microdissected samples. Confirming data regarding PSA mRNA expression and protein production have been obtained by using the prostate cancer cell line LNCap.

In conclusion, we demonstrated for the first time the feasibility of the simultaneous application of real-time RT-PCR and immuno qPCR to purified homogeneous cell populations obtained by LAM. These methods could represent a powerful tool to enhance the diagnostic value of gene expression studies in human cancers at mRNA and protein levels.

 

Session:   Pre-analytical-Steps

Chair:   A. Stahlberg / J. Huggett

Lecture hall   HS 15

An optimised protocol for extracting RNA from single bovine oocyte and blastomeres.

Marc Boelhauve1, Fabiola F Paula-Lopes2, Tuna Güngör1, Eckhard Wolf1

1Institute of Molecular Animal Breeding and Biotechnology, LMU Munich, Germany and 2Laboratório de Biotécnicas da Reprodução, Departamento de Medicina Veterinária da Universidade Federal Rural de Pernambuco, Recife – PE, Brazil

Email: m.boelhauve@gen.vetmed.uni-muenchen.de

Quantitative PCR (qPCR) analysis of gene expression in single bovine oocytes or blastomeres from early preimplantation embryos needs to meet optimized requirements for the isolation of RNA, reverse transcription reaction and even qPCR. In this study the first hurdle to a sufficient detection of low abundant genes was analyzed. There are many protocols available for extracting RNA from different materials, but normally large amounts of tissues are required. For extracting RNA from bovine preimplantation embryos several methods are available, but the RNA recovery per embryo is too low for the detection of low abundant genes. Therefore a modified/optimised isolation method is essential for obtaining sufficient RNA recoveries of single oocytes/embryos or even single blastomeres. Several experiments were conducted to increase the RNA recovery. In the first experiment different isolation protocols, taken from the literature, were compared (isolation of total RNA and messenger RNA). In a second experiment the best isolation protocol was used to analyse the influence of a coprecipitant (e.g. glycogen) on the RNA recovery and the inhibition of the reverse transcription process. In the third experiment the collection/storage of oocytes was compared (e.g. RNAlater or liquid nitrogen). Due to the low amount of RNAs, standards for the RNA isolation and the reverse transcription process were evaluated. Finally, total RNA concentrations were measured by two different methods (Nanodrop and Agilent Bioanalyzer) of ten bovine embryonic developmental stages (immature oocyte up to hatched blastocyst). For each experiment studied, RNA was reverse transcripted with Omni Extreme Script and random hexamer primers. The RNA recovery was analysed by the detection of transcript levels of high (STAT3), middle (Histone 2A) and low abundant (Leptin Receptor, LEPR) genes in an ABI PRISM SDS 7000 apparatus.


Laser microdissection – Bridging the gap between sample preparation and molecular biological analysis.

Hagen-Mann Kerstin

Carl Zeiss MicroImaging, Germany

Email: k.hagen-mann@zeiss.de

Targeting single cells, defined cells of a united cell structure or cell culture requires tools for precise selection of such targets. By means of laser microdissection and contact free catapulting into reaction tubes or onto glass surfaces researchers can prepare very homogeneous samples for gene expression, fingerprinting or pure cell cultures. We can prove that manipulation with laser microdissection does not affect the behaviour of cells in a cell culture, it does not change their characteristics (e.g. markers) and they survive this treatment easily. The target for laser microdissection can be an area of a tissue section, single cells of such a slide or even nuclei and single chromosomes or parts of them as well as living cells. Because the excision and transfer into the reaction tube is contact free, this technique provides a perfect contamination free environment for preparation of samples for all contamination sensitive downstream analysis applications. Reproducible sample preparation of defined numbers of cells are the prerequisite for quantitative experiments and their results.


Bring in the marines! Removal of contaminating DNA by marine enzymes in RT-PCR.

Elde M., Lanes O. and Gjellesvik D.R.

Biotec Pharmacon, Norway

Email: morten.elde@biotec.no

Marine enzymes from cold-adapted organisms exhibit properties that make them useful as tools in molecular biology. A common feature for these enzymes is high activity at low temperatures and that they are easily heat inactivated at moderate temperatures. Here we present the use of two different marine enzymes in RT-PCR.

The presence of contaminating DNA in quantitative RT-PCR is often a problem and can give erroneous results. The origin of the contaminating DNA may be genomic from the RNA source, or may be previous PCR products (carry-over contamination).

A nuclease from the arctic shrimp ( Pandalus borealis ) has properties that makes it useful for removal of contaminating DNA in a RT-PCR reaction. It is double-strand specific and easily inactivated. Here we show how the shrimp nuclease, in a one-step RT-PCR, removes double-stranded DNA from the RT-PCR mix, leaving RNA and primers intact.

Uracil-DNA-Glycosylase (UNG) is an enzyme often used to remove carry-over contaminants in quantitative PCR. We have tested the use of a marine UNG from cod ( Gadus morhua ) for carry-over prevention in RT-PCR, and compared it with other UNGs already available. Contaminating DNA is efficiently removed by the cod UNG but does not affect the sensitivity (Ct) of the qRT-PCR assay.


Multiplex preamplification of limited samples and novel analytical controls.

Zimmermann Bernhard, Wang Jianghua, Wong David

UCLA, Dental Research Institute

Email: bgz@ucla.edu

We present a new method for the multiplex 1-step RT-PCR based preamplification of mRNA that allows the determination of extensive expression patterns even from limited clinical samples such as saliva, where sample volume, abundance and integrity of mRNA are limited. The singleplex real-time PCR analysis following the preamplification can be performed with cost effective dye based chemistries in low reaction volumes with assay performance equal to conventional RT-qPCR. We show that the analysis can even be performed in 33 nanoliter reaction volumes on the BioTrove Open Array platform, which will enable high-throughput quantification in previously unparalleled extent, carrying out over 3000 individual qPCR reactions on a single slide.

In addition to the analytical targets, multiple transcripts for normalization can be integrated in the analysis. As these are reverse transcribed and amplified in the same reaction with the analytical targets, this also reduces the variability of the measurements to a large extent. Furthermore we present the use of several exogenous mRNAs as controls for sample analysis. These can be spiked into the sample prior to extraction or during the analytical process, thus controlling for inhibition, extraction efficiency and analytical variability. In the future they will also be used as semi-quantitative internal standards.

Finally our work indicates the necessity to incorporate appropriate carrier material such as tRNA into the handling of samples and reference material of low RNA concentration.

Overall, the new method allows the flexibility to establish extensive expression patterns of well over 30 targets for all kinds of biological samples and RNA concentrations. The high specificity and the implementation of extensive controls present a major advancement for research and clinical analysis of nucleic acids by qPCR and also other downstream methods.


Successful measurement of gene expression by quantitative PCR and DNA chip analysis with RNA derived of FFPE material.

Sybille Matthey1, Vlad Popovici2, Janine Antonov1, Andrea Oberli1, Anna Baltzer1, Mauro Delorenzi2 and Hans Jörg Altermatt3 and Rolf Jaggi1

1Department of Clinical Research, University of Bern, CH-3010 Bern, Switzerland, 2Swiss Institute of Bioinformatics (SIB), CH-1015 Lausanne, Switzerland and 3Pathology Länggasse, CH-3012 Bern, Switzerland

Email: rolf.jaggi@dkf.unibe.ch

Expression profiling with DNA chips is very popular and widely used in several areas of research including breast cancer. Until now, this technology depended on intact or at least good quality RNA which can only be isolated from fresh or freshly preserved tumor material (e.g. by snap freezing tumor material). Such material is not collected on a regular basis and therefore, only exists in very limited sets of samples. On the other hand, many thousands of samples exist as Formalin-fixed, Paraffin-embedded (FFPE) blocks, as they are collected and preserved in routine diagnostics. Even more interesting are samples, which were collected in the context of clinically controlled studies. Unfortunately, formalin fixation and paraffin embedding does not only lead to partial degradation of RNA, it also leads to extensive chemical cross-linking between nucleic acids (intra- and intermolecular) and between nucleic acids and proteins. As a result, RNA can only be isolated from tissue homogenates after extensive digestion with proteinase. We developed a special de-modification procedure which reverts N-methylol bonds formed during fixation between nucleotide bases and formaldehyde and which hydrolyzes methylene bridges between nucleic acids. The resulting RNA is highly suited for down-stream applications, e.g. TaqMan expression assays when used in combination with gene-specific cDNA and optimized TaqMan assays. The same RNA was also used for DNA chip analyses: RNA was amplified in a single round of random primed, T7-tagged reverse transcription followed by in vitro transcription in the presence of biotinylated or Cy3-labeled nucleotides. The resulting cRNA was hybridized to 12k CombiMatrix arrays and 44k Agilent arrays. CombiMatrix uses 35-40-mer oligonucleotides synthesized in a special porous layer, Agilent uses 60-70-mer oligonucleotides synthesized on glass slides. The technical quality of chips was assessed by comparing the same probe on different arrays (technical replicates). More interestingly, expression values from FFPE-derived RNA were compared to expression values from intact RNA (derived of snap frozen material of the same tumors). Correlations between such matched samples were in the range of 0.80-0.95, depending on the gene list of interest. We also compared DNA chip with QPCR for a number of genes: again, good correlations were observed between QPCR and DNA chips for both, good quality RNA (snap frozen) and FFPE-derived RNA.

We have developed a rapid and simple procedure for RNA isolation from FFPE material. The resulting RNA is suitable for QPCR and DNA chip based analyses. Samples from a clinical study on the efficacy of Tamoxifen and Letrozole for which only FFPE blocks exist, are currently being analyzed.


Simple & effective measures to increase consistency from sample to Ct.

Kavanagh I.

Thermo Fisher Scientific, ABgene, Great Britain (United Kingdom)

Email: ian.kavanagh@thermofisher.com

There are many choices a user must make in order to establish a viable QRT-PCR procedure. At Thermo Scientific (ABgene) we have identified aspects within a QRT-PCR protocol, ranging from sample preparation through to amplification, which can introduce variability to data. Introduction of simple, but effective measures can result in increased consistency throughout QRT-PCR.

During sample preparation contamination of an RNA sample with genomic DNA can lead to decreased reaction efficiency and false positives. DNase I is commonly used for removing DNA contamination, but this method is both time-consuming and increases the risk of RNA degradation. This degradation can occur during the harsh inactivation conditions of the DNase I. We have developed an alternative method that degrades contaminating DNA, which is equal in performance to DNase I, but also saves time and effort.

A choice of priming strategy must be made to initiate reverse transcription (RT). We have assessed the effect that a variety of alternative RT priming methods can have on the sensitivity of QPCR in different applications. We found that using a gene-specific primer for RT demonstrated the most sensitive QPCR amplification, with earlier Ct values. However, gene-specific priming limits the number of cDNA pool applications. We found that a blend of anchored oligo-dT and random hexamers generated the best Ct and end-point readings. In addition, this blend allows greater flexibility in the choice of endogenous control genes.

During the amplification step of QRT-PCR, dUTP is normally used in conjunction with the enzyme Uracil-N-Glycosylase (UNG) in order to remove any amplicon carry-over contamination. When using dUTP, higher Ct values and decreased QPCR reaction efficiencies of up to 5% are generated. Therefore a further way to increase consistency is to use a master mix that contains dTTP instead of dUTP.

Thermo Scientific has discovered that the use of white polypropylene plastic consumables can eliminate inefficient signal reflection observed in natural (clear) or frosted polypropylene. Different shades of white were tested to determine the optimum colour to provide the most sensitive detection. Despite the benefit of generating more reliable data, one of the biggest problems when using white plates has been visualizing the master mix in the well. One of our recently launched products, ABsoluteTM Blue QPCR master mix, solves this problem. This QPCR master mix contains an inert blue dye to significantly enhance the contrast between reagent and plastic and make verification of master mix dispensing quick, easy and foolproof.

The most important aspect of QPCR is increasing the consistency and reproducibility of the results generated. By employing a number of simple yet effective measures, users can significantly reduce many of the variables inherent in the QPCR process.


Pre-amplification with standardized mixtures of internal standards enables highly multiplexed Quantitative PCR analysis when sample size is limited or restricted by the volume requirements of nanofluidic systems.

James C. Willey1, Erin, L. Crawford1, Charles Knight2, Bradley Austermiller2

1University of Toledo, Toledo, Ohio, United States of America and 2Gene Express, Inc. Toledo, Ohio, United States of America