Genes 2010, 1(3), 550-563; doi:10.3390/genes1030550

Gene Conversion in Human Genetic Disease

1,2,3,* email, 1,2,3,4email and 5email
Received: 15 October 2010; in revised form: 12 November 2010 / Accepted: 17 November 2010 / Published: 22 December 2010
(This article belongs to the Special Issue Gene Conversion in Duplicated Genes)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: gene conversion mutation; homologous recombination; human inherited disease
PDF Full-text Download PDF Full-Text [320 KB, uploaded 22 December 2010 16:53 CET]

Export to BibTeX |

MDPI and ACS Style

Chen, J.-M.; Férec, C.; Cooper, D.N. Gene Conversion in Human Genetic Disease. Genes 2010, 1, 550-563.

AMA Style

Chen J-M, Férec C, Cooper DN. Gene Conversion in Human Genetic Disease. Genes. 2010; 1(3):550-563.

Chicago/Turabian Style

Chen, Jian-Min; Férec, Claude; Cooper, David N. 2010. "Gene Conversion in Human Genetic Disease." Genes 1, no. 3: 550-563.

Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert