Gene conversion in human genetic disease

Chen, Jian-Min, Férec, Claude and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2010. Gene conversion in human genetic disease. Genes 1 (3) , pp. 550-563. 10.3390/genes1030550

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Abstract

Gene conversion is a specific type of homologous recombination that involves the unidirectional transfer of genetic material from a ‘donor’ sequence to a highly homologous ‘acceptor’. We have recently reviewed the molecular mechanisms underlying gene conversion, explored the key part that this process has played in fashioning extant human genes, and performed a meta-analysis of gene-conversion events known to have caused human genetic disease. Here we shall briefly summarize some of the latest developments in the study of pathogenic gene conversion events, including (i) the emerging idea of minimal efficient sequence homology (MESH) for homologous recombination, (ii) the local DNA sequence features that appear to predispose to gene conversion, (iii) a mechanistic comparison of gene conversion and transient hypermutability, and (iv) recently reported examples of pathogenic gene conversion events.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords:	gene conversion mutation, homologous recombination, human inherited disease
Additional Information:	Pdf uploaded in accordance with publisher's policy at http://www.sherpa.ac.uk/romeo/issn/2073-4425/ (accessed 19/02/2014).
Publisher:	MDPI Publishing
ISSN:	2073-4425
Date of First Compliant Deposit:	30 March 2016
Last Modified:	21 May 2023 14:26
URI:	https://orca.cardiff.ac.uk/id/eprint/29480

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