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

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...

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Bibliographic Details
Published in:Developmental dynamics 2011-05, Vol.240 (5), p.920-930
Main Authors: VanderMeer, Julia E., Ahituv, Nadav
Format: Article
Language:English
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
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Summary: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.
ISSN:1058-8388
1097-0177
DOI:10.1002/dvdy.22535