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1

Institut National de la Santé et de la Recherche Médicale INSERM, U613, Brest, France

2

Etablissement Français du Sang EFS-Bretagne, Brest, France

3

Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale UBO, Brest, France

4

Laboratoire de Génétique Moléculaire et d’Histocompatibilité, Centre Hospitalier Universitaire CHU de Brest, Hôpital Morvan, Brest, France

5

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK





*

Author to whom correspondence should be addressed.



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. View Full-Text

Keywords: gene conversion mutation; homologous recombination; human inherited disease gene conversion mutation; homologous recombination; human inherited disease





Author: Jian-Min Chen 1,2,3,* , Claude Férec 1,2,3,4 and David N. Cooper 5

Source: http://mdpi.com/



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