The resolution of the genetics of gene expression

被引：17

作者：

Montgomery, Stephen B. ^{[1
,2
]}

Dermitzakis, Emmanouil T. ^{[1
]}

机构：

[1] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva, Switzerland

[2] Wellcome Trust Sanger Inst, Cambridge CB10 1HH, England

来源：

HUMAN MOLECULAR GENETICS | 2009年 / 18卷

基金：

英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; QUANTITATIVE TRAIT LOCI; METHYLATION PATTERNS; HUMAN TRANSCRIPTOME; RNA-SEQ; DNA; COMPLEXITY; DISEASE; DISSECTION; PROMOTERS;

D O I：

10.1093/hmg/ddp400

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Understanding the influence of genetics on the molecular mechanisms underpinning human phenotypic diversity is fundamental to being able to predict health outcomes and treat disease. To interrogate the role of genetics on cellular state and function, gene expression has been extensively used. Past and present studies have highlighted important patterns of heritability, population differentiation and tissue-specificity in gene expression. Current and future studies are taking advantage of systems biology-based approaches and advances in sequencing technology: new methodology aims to translate regulatory networks to enrich pathways responsible for disease etiology and 2nd generation sequencing now offers single-molecular resolution of the transcriptome providing unprecedented information on the structural and genetic characteristics of gene expression. Such advances are leading to a future where rich cellular phenotypes will facilitate understanding of the transmission of genetic effect from the gene to organism.

引用

页码：R211 / R215

页数：5

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