Mutations in gene regulatory elements linked to human limb malformations. Issue 6 (19th December 2019)

• Record Type: Journal Article
• Authors: Nowosad, Karol; Hordyjewska-Kowalczyk, Ewa; Tylzanowski, Przemko
• Is Part Of: Journal of medical genetics. Volume 57:Issue 6(2020)
• Page Start: 361
• Page End: 370
• Publication Date: 2019-12-19
• Subjects: non-coding DNA -- limb defects -- enhancers -- lncRNA -- miRNA; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2019-106369
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.