Special Issue Reviews–A Peer Reviewed Forum
cis-regulatory mutations are a genetic cause of human limb malformations
Article first published online: 11 JAN 2011
Copyright © 2010 Wiley-Liss, Inc.
Special Issue: Special Issue on Limb Development
Volume 240, Issue 5, pages 920–930, May 2011
How to Cite
VanderMeer, J. E. and Ahituv, N. (2011), cis-regulatory mutations are a genetic cause of human limb malformations. Dev. Dyn., 240: 920–930. doi: 10.1002/dvdy.22535
- Issue published online: 20 APR 2011
- Article first published online: 11 JAN 2011
- Manuscript Accepted: 30 NOV 2010
- National Institutes of Health. Grant Numbers: NICHD R01HD059862, NHGRI R01HG005058
- human limb malformation
The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. Developmental Dynamics 240:920–930, 2011. © 2011 Wiley-Liss, Inc.