Gene Conversion in Human Genetic DiseaseReport as inadecuate

Gene Conversion in Human Genetic Disease - Download this document for free, or read online. Document in PDF available to download.


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.

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



Related documents