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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| Veröffentlicht in: | Developmental dynamics 2011-05, Vol.240 (5), p.920-930 |
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| container_title | Developmental dynamics |
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| creator | VanderMeer, Julia E. Ahituv, Nadav |
| description | 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. |
| doi_str_mv | 10.1002/dvdy.22535 |
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| ispartof | Developmental dynamics, 2011-05, Vol.240 (5), p.920-930 |
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| language | eng |
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| source | Wiley Free Content; MEDLINE; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| 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 |
| title | cis‐regulatory mutations are a genetic cause of human limb malformations |
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