Enhancers: from developmental genetics to the genetics of common human disease

Iain Williamson; Robert E Hill; Wendy A Bickmore

doi:10.1016/j.devcel.2011.06.008

Enhancers: from developmental genetics to the genetics of common human disease

Dev Cell. 2011 Jul 19;21(1):17-9. doi: 10.1016/j.devcel.2011.06.008.

Authors

Iain Williamson¹, Robert E Hill, Wendy A Bickmore

Affiliation

¹ MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh, UK.

PMID: 21763601
DOI: 10.1016/j.devcel.2011.06.008

Abstract

In mammals, long-range gene regulation became apparent through simple Mendelian disease genetics in human and developmental genetics in the mouse. Can the insights into gene control, provided by the study of these enhancers, help us understand the functional significance of sequence variation associated with common/complex human disease and quantitative traits?

MeSH terms

Animals
Developmental Biology*
Disease / genetics*
Enhancer Elements, Genetic / genetics*
Gene Expression Regulation / genetics*
Humans

Abstract

MeSH terms

Grants and funding