Global Properties and Functional Complexity of Human Gene Regulatory Variation | Zendy

Daniel J. Gaffney | Zendy

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Global Properties and Functional Complexity of Human Gene Regulatory Variation

Author(s) -

Daniel J. Gaffney

Publication year - 2013

Publication title -

plos genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.587

H-Index - 233

eISSN - 1553-7404

pISSN - 1553-7390

DOI - 10.1371/journal.pgen.1003501

Subject(s) - biology , computational biology , functional genomics , genomics , human genetic variation , genetic variation , genetic architecture , variation (astronomy) , gene , phenotype , identification (biology) , genetics , regulation of gene expression , gene regulatory network , evolutionary biology , regulatory sequence , genome , gene expression , human genome , physics , botany , astrophysics

Identification and functional interpretation of gene regulatory variants is a major focus of modern genomics. The application of genetic mapping to molecular and cellular traits has enabled the detection of regulatory variation on genome-wide scales and revealed an enormous diversity of regulatory architecture in humans and other species. In this review I summarise the insights gained and questions raised by a decade of genetic mapping of gene expression variation. I discuss recent extensions of this approach using alternative molecular phenotypes that have revealed some of the biological mechanisms that drive gene expression variation between individuals. Finally, I highlight outstanding problems and future directions for development.

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