qPCR NEWSLETTER - Copy Number Variations measured by real-time PCR
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Dear researcher,
dear Gene Quantification page reader,
Our newsletter informs about the latest news in quantitative real-
time PCR (qPCR
and qRT-PCR), which are compiled and summarised on the Gene
Quantification homepage.
The focus of this newsletter issue is:
- Copy Number Variation
- new webinars online
- qPCR application workshops in 2008
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The gene copy number (also "copy number variants" or CNVs) is the
number of copies
of a particular gene in the genotype of an individual. Recent
evidence shows that
the gene copy number can be elevated in cancer cells.
http://cnv.gene-
The human genome is comprised of 6 billion chemical bases (or
nucleotides) of DNA
packaged into two sets of 23 chromosomes, one set inherited from each
parent. The
DNA encodes roughly 27,000 genes. It was generally thought that genes
were almost
always present in two copies in a genome. However, recent discoveries
have revealed
that large segments of DNA, ranging in size from thousands to
millions of DNA bases,
can vary in copy-number. Such copy number variations (or CNVs) can
encompass genes
leading to dosage imbalances. For example, genes that were thought to
always occur
in two copies per genome have now been found to sometimes be present
in one, three,
or more than three copies. In a few rare instances the genes are
missing altogether
(see figure).
Why are CNVs important?
Differences in the DNA sequence of our genomes contribute to our
uniqueness. These
changes influence most traits including susceptibility to disease. It
was thought
that single nucleotide changes (called SNPs) in DNA were the most
prevalent and important
form of genetic variation. The current studies reveal that CNVs
comprise at least
three times the total nucleotide content of SNPs. Since CNVs often
encompass genes,
they may have important roles both in human disease and drug
response. Understanding
the mechanisms of CNV formation may also help us better understand
human genome evolution.
How does the new CNV map help?
The new global CNV map will transform medical research in four areas.
The first and
most important area is in hunting for genes underlying common
diseases. To date,
attempts to identify these genes have not really considered the role
CNVs may play
in human health. Second, the CNV map is being used to study familial
genetic conditions.
Third, there are thousands of severe developmental defects caused by
chromosomal
rearrangements. The CNV map is being used to exclude variation found
in unaffected
individuals, helping researchers to target the region that might be
involved. The
data generated will also contribute to a more accurate and complete
human genome
reference sequence used by all biomedical scientists.
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more papers here => http://cnv.gene-
The Patterns of Natural Variation in Human Genes.
Structural variants: changing the landscape of chromosomes and design
of disease
studies.
Copy number variation: New insights in genome diversity.
Robust quantification of the SMN gene copy number by real-time TaqMan
PCR.
An accurate method for quantifying and analyzing copy number
variation in porcine
KIT by an oligonucleotide ligation assay.
Large-Scale Copy Number Polymorphism in the Human Genome.
Major changes in our DNA lead to major changes in our thinking.
Accurate and reliable high-throughput detection of copy number
variation in the human
genome.
Relevance of BAC transgene copy number in mice: transgene copy number
variation across
multiple transgenic lines and correlations with transgene integrity
and expression.
Detection of large-scale variation in the human genome.
Multiplex PCR-Based Real-Time Invader Assay (mPCR-RETINA)
SNP-Based Method
for Detecting Allelic Asymmetries Within Copy Number Variation
Regions.
Strong association between mitochondrial DNA copy number and
lipogenesis in human
white adipose tissue.
Genome assembly comparison identifies structural variants in the
human genome.
Estrogen receptor alpha (ERa) mRNA copy numbers in
immunohistochemical
and negative breast cancer tissues.
Genome wide measurement of DNA copy number changes in neuroblastoma:
dissecting amplicons
and mapping losses, gains and breakpoints.
Large-scale copy number variants (CNVs): Distribution in normal
subjects and FISH/real-time
qPCR analysis.
Stochastic mRNA Synthesis in Mammalian Cells.
Global variation in copy number in the human genome.
more papers here => http://cnv.gene-
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Upcoming Events World-wide academic and commercial qPCR Events
http://events.
Symposia, Meetings, Conferences, Workshops, Seminars, Online-
Seminars, qPCR Education Program, ...etc..
Please submit your qPCR event here => events@gene-
quantification.
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WORKSHOP
TATAA Biocenter Germany - qPCR Application workshops
At the TATAA Biocenter Germany we offer qPCR application workshops,
the 3-day Core
Module and a 2-day Biostatistics Module. qPCR courses are held in
regularly in Göteborg,
Sweden, in English and in Freising-Weihenstep
and English,
and in Prague, Czech Republic in English and Czech.
Depending on the occasion the workshop language and the different
prices may apply.
Further customized workshops and specialized trainings will be held
as well across
Europe and world-wide. TATAA Biocenter Germany courses are held in
cooperation with
the Institute of Physiology, located at the Technical University of
Munich, in Freising-Weihenstep
near Munich, very close to the Munich Airport (MUC). For more
information and to
register for the qPCR application workshops, please see our web
page: http://tataa.
Course Occasions 2008:
3-day qPCR Core Module (Mon. - Wed.) and 2-day BioStatistics
Module (Thu. - Fri.)
* 3rd - 7th March 2008 (in Freising, Germany, English language)
* 5 - 9th May 2008 (in Freising, Germany, Kurs wird in DEUTSCH
gehalten, German language)
* 7 - 11th July 2008 (in Freising, Germany, English language)
Please register here => http://www.tataa.
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Forward Please send the qPCR NEWS to further scientists and friends
who are interested
in qPCR !
Best regards,
Michael W. Pfaffl
responsible Editor of the Gene Quantification Pages
http://www.gene-
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The CNS Healing Group
http://groups.yahoo.com/group/CNS_Healing
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