cis‐regulatory mutations are a genetic cause of human limb malformations

• Published in: Developmental dynamics Vol. 240; no. 5; pp. 920 - 930
• Main Authors: VanderMeer, Julia E., Ahituv, Nadav
• Format: Journal Article
• Language: English
• Published: New York Wiley‐Liss, Inc 01.05.2011
• Subjects: cis‐regulatory; enhancer; Gene Expression Regulation, Developmental - genetics; Gene Expression Regulation, Developmental - physiology; human limb malformation; Humans; Limb Deformities, Congenital - genetics; Mutation; Regulatory Sequences, Nucleic Acid - genetics
• ISSN: 1058-8388; 1097-0177
• DOI: 10.1002/dvdy.22535

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.