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Genes 2010, 1(3), 550-563;

Gene Conversion in Human Genetic Disease

Institut National de la Santé et de la Recherche Médicale (INSERM), U613, Brest, France
Etablissement Français du Sang (EFS)-Bretagne, Brest, France
Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France
Laboratoire de Génétique Moléculaire et d’Histocompatibilité, Centre Hospitalier Universitaire (CHU) de Brest, Hôpital Morvan, Brest, France
Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Author to whom correspondence should be addressed.
Received: 15 October 2010 / Revised: 12 November 2010 / Accepted: 17 November 2010 / Published: 22 December 2010
(This article belongs to the Special Issue Gene Conversion in Duplicated Genes)
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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. View Full-Text
Keywords: gene conversion mutation; homologous recombination; human inherited disease gene conversion mutation; homologous recombination; human inherited disease

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

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