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Mutations in gene regulatory elements linked to human limb malformations

Journal Contribution - Journal Article

Most of the human genome has a regulatory function in gene expression. The technological progress made in recent years permitted the revision of old and discovery of new mutations outside of the protein-coding regions that do affect human limb morphology. Steadily increasing discovery rate of such mutations suggests that until now the largely neglected part of the genome rises to its well-deserved prominence. In this review, we describe the recent technological advances permitting this unprecedented advance in identifying non-coding mutations. We especially focus on the mutations in cis-regulatory elements such as enhancers, and trans-regulatory elements such as miRNA and long non-coding RNA, linked to hereditary or inborn limb defects. We also discuss the role of chromatin organisation and enhancer-promoter interactions in the aetiology of limb malformations.
Journal: Journal of medical genetics
ISSN: 0022-2593
Issue: 6
Volume: 57
Pages: 361 - 370
Number of pages: 10
Publication year:2020
Accessibility:Open