Literature DB >> 19630563

Inherited variation in gene expression.

Daniel A Skelly1, James Ronald, Joshua M Akey.   

Abstract

Variation in gene expression constitutes an important source of biological variability within and between populations that is likely to contribute significantly to phenotypic diversity. Recent conceptual, technical, and methodological advances have enabled the genome-scale dissection of transcriptional variation. Here, we outline common approaches for detecting gene expression quantitative trait loci, and summarize the insights gleaned from these studies regarding the genetic architecture of transcriptional variation and the nature of regulatory alleles. Particular emphasis is placed on human studies, and we discuss experimental designs that ensure that increasingly large and complex studies continue to advance our understanding of gene expression variation. We conclude by discussing the evolution of gene expression levels, and we explore prospects for leveraging new technological developments to investigate inherited variation in gene expression in even greater depth.

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Year:  2009        PMID: 19630563     DOI: 10.1146/annurev-genom-082908-150121

Source DB:  PubMed          Journal:  Annu Rev Genomics Hum Genet        ISSN: 1527-8204            Impact factor:   8.929


  39 in total

1.  Signatures of positive selection apparent in a small sample of human exomes.

Authors:  Jacob A Tennessen; Jennifer Madeoy; Joshua M Akey
Journal:  Genome Res       Date:  2010-08-06       Impact factor: 9.043

2.  Variation in transcription factor binding among humans.

Authors:  Maya Kasowski; Fabian Grubert; Christopher Heffelfinger; Manoj Hariharan; Akwasi Asabere; Sebastian M Waszak; Lukas Habegger; Joel Rozowsky; Minyi Shi; Alexander E Urban; Mi-Young Hong; Konrad J Karczewski; Wolfgang Huber; Sherman M Weissman; Mark B Gerstein; Jan O Korbel; Michael Snyder
Journal:  Science       Date:  2010-03-18       Impact factor: 47.728

3.  A powerful and flexible statistical framework for testing hypotheses of allele-specific gene expression from RNA-seq data.

Authors:  Daniel A Skelly; Marnie Johansson; Jennifer Madeoy; Jon Wakefield; Joshua M Akey
Journal:  Genome Res       Date:  2011-08-26       Impact factor: 9.043

Review 4.  The role of regulatory variation in complex traits and disease.

Authors:  Frank W Albert; Leonid Kruglyak
Journal:  Nat Rev Genet       Date:  2015-02-24       Impact factor: 53.242

5.  TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

Authors:  N Wu; X Ming; J Xiao; Z Wu; X Chen; M Shinawi; Y Shen; G Yu; J Liu; H Xie; Z S Gucev; S Liu; N Yang; H Al-Kateb; J Chen; J Zhang; N Hauser; T Zhang; V Tasic; P Liu; X Su; X Pan; C Liu; L Wang; J Shen; J Shen; Y Chen; T Zhang; J Zhang; K W Choy; J Wang; Q Wang; S Li; W Zhou; J Guo; Y Wang; C Zhang; Hong Zhao; Yu An; Yu Zhao; J Wang; Z Liu; Y Zuo; Y Tian; X Weng; V R Sutton; H Wang; Y Ming; S Kulkarni; T P Zhong; P F Giampietro; S L Dunwoodie; S W Cheung; X Zhang; L Jin; J R Lupski; G Qiu; F Zhang
Journal:  N Engl J Med       Date:  2015-01-07       Impact factor: 91.245

6.  The impact of cis-acting polymorphisms on the human phenotype.

Authors:  Bryony L Jones; Dallas M Swallow
Journal:  Hugo J       Date:  2011-07-20

Review 7.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

8.  Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression.

Authors:  Rajiv C McCoy; Jon Wakefield; Joshua M Akey
Journal:  Cell       Date:  2017-02-23       Impact factor: 41.582

9.  Population genomics and transcriptional consequences of regulatory motif variation in globally diverse Saccharomyces cerevisiae strains.

Authors:  Caitlin F Connelly; Daniel A Skelly; Maitreya J Dunham; Joshua M Akey
Journal:  Mol Biol Evol       Date:  2013-04-25       Impact factor: 16.240

10.  Comprehensive Analysis of the SUL1 Promoter of Saccharomyces cerevisiae.

Authors:  Matthew S Rich; Celia Payen; Alan F Rubin; Giang T Ong; Monica R Sanchez; Nozomu Yachie; Maitreya J Dunham; Stanley Fields
Journal:  Genetics       Date:  2016-03-02       Impact factor: 4.562

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