Relative impact of nucleotide and copy number variation on gene expression phenotypes

Science
Barbara E StrangerEmmanouil T Dermitzakis

Abstract

Extensive studies are currently being performed to associate disease susceptibility with one form of genetic variation, namely, single-nucleotide polymorphisms (SNPs). In recent years, another type of common genetic variation has been characterized, namely, structural variation, including copy number variants (CNVs). To determine the overall contribution of CNVs to complex phenotypes, we have performed association analyses of expression levels of 14,925 transcripts with SNPs and CNVs in individuals who are part of the International HapMap project. SNPs and CNVs captured 83.6% and 17.7% of the total detected genetic variation in gene expression, respectively, but the signals from the two types of variation had little overlap. Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans.

References

Jan 1, 1996·Genetics·R W Doerge, G A Churchill
Mar 21, 2003·Nature·Eric E SchadtStephen H Friend
Jul 27, 2004·Science·Jonathan SebatMichael Wigler
Aug 3, 2004·Nature Genetics·A John IafrateCharles Lee
Oct 23, 2004·Science·Tomi Pastinen, Thomas J Hudson
Nov 19, 2004·American Journal of Human Genetics·Dirk A Kleinjan, Veronica van Heyningen
Nov 30, 2004·Nature Genetics·Marjorie F OleksiakDouglas L Crawford
Jan 22, 2005·Proceedings of the National Academy of Sciences of the United States of America·Rachel B Brem, Leonid Kruglyak
Apr 20, 2005·Genome Research·Sudheer DossAldons J Lusis
May 17, 2005·Nature Genetics·Eray TuzunEvan E Eichler
Jul 23, 2005·PLoS Biology·John D StoreyLeonid Kruglyak
Oct 21, 2005·The New England Journal of Medicine·Martin J SomervilleLucy R Osborne
Oct 29, 2005·Nature·UNKNOWN International HapMap Consortium
Dec 6, 2005·Nature Genetics·Donald F ConradJonathan K Pritchard
Dec 6, 2005·Nature Genetics·David A HindsKelly A Frazer
Dec 20, 2005·PLoS Genetics·Barbara E StrangerEmmanouil T Dermitzakis
Feb 10, 2006·Nature Genetics·Steven A McCarrollUNKNOWN International HapMap Consortium
May 3, 2006·Human Molecular Genetics·Lars FeukStephen W Scherer
Jun 20, 2006·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Emmanouil T Dermitzakis, Barbara E Stranger
Jul 11, 2006·American Journal of Human Genetics·Devin P LockeEvan E Eichler
Nov 24, 2006·Nature·Richard RedonMatthew E Hurles

❮ Previous
Next ❯

Citations

Aug 6, 2008·Archives of General Psychiatry·Roy H PerlisUNKNOWN Phenotype Genotype Project on Addiction and Mood Disorders
Apr 17, 2009·TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·Weibo XieQifa Zhang
Sep 17, 2009·TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·André BelóAntoni Rafalski
Aug 15, 2009·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·F-Y DengH-W Deng
Dec 3, 2010·Mammalian Genome : Official Journal of the International Mammalian Genome Society·George E LiuLouis C Gasbarre
Jul 10, 2012·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Olga ErmakovaCornelius Gross
Jul 10, 2012·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Binnaz YalcinThomas M Keane
May 8, 2008·Human Genetics·Emmanuelle MassonClaude Férec
Jun 16, 2009·Human Genetics·David Patterson
Sep 7, 2007·Journal of Human Genetics·Chihiro KakiuchiTadafumi Kato
Jul 14, 2012·Functional & Integrative Genomics·George E Liu, Derek M Bickhart
Jan 1, 2013·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Yutaka SuehiroKohsuke Sasaki
Jan 25, 2012·Computers in Biology and Medicine·Jaegyoon AhnSanghyun Park
Aug 25, 2009·The Proceedings of the Nutrition Society·M J Dauncey
Oct 16, 2012·Development and Psychopathology·Michael Gill
Aug 14, 2009·Expert Reviews in Molecular Medicine·Lisa C WillcocksMenna R Clatworthy
Mar 10, 2010·Expert Reviews in Molecular Medicine·Charles Lee, Stephen W Scherer
Aug 1, 2008·Animal : an International Journal of Animal Bioscience·B BeerdaR F Veerkamp
Mar 24, 2012·Animal : an International Journal of Animal Bioscience·D P BerryC J Creevey
Oct 31, 2007·Nature·Erika Check Hayden
Feb 21, 2008·European Journal of Human Genetics : EJHG·Ku Chee Seng, Chia Kee Seng
Aug 19, 2011·European Journal of Human Genetics : EJHG·Jessica BeckerJohannes Schumacher
Jun 29, 2012·European Journal of Human Genetics : EJHG·Valerio CostaAlfredo Ciccodicola
May 3, 2012·European Journal of Human Genetics : EJHG·Richard HoltAlistair T Pagnamenta
Jan 23, 2009·Journal of Human Genetics·Yusuke Nakamura
Mar 20, 2010·Journal of Human Genetics·Chee Seng KuKee Seng Chia
Sep 25, 2008·Molecular Psychiatry·M C O'DonovanUNKNOWN Molecular Genetics of Schizophrenia Collaboration
Jun 19, 2009·Nature·Sharon J DiskinJohn M Maris
Oct 9, 2009·Nature·Donald F ConradMatthew E Hurles
Mar 12, 2010·Nature·Stephen B MontgomeryEmmanouil T Dermitzakis
Jul 13, 2011·Nature Biotechnology·Kasper D HansenJeffrey T Leek
Aug 6, 2013·Nature Communications·Anne SicardStéphane Blanc

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Nature Genetics
Barbara E StrangerEmmanouil T Dermitzakis
Nature Reviews. Genetics
Lars FeukStephen W Scherer
© 2021 Meta ULC. All rights reserved