Gene conversion in human genetic disease.
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.
Institut National de la Santé et de la Recherche Médicale (INSERM), U613, Brest, France. jian-min.chen@univ-brest.fr.
Jian-Min
JM
Chen
Institut National de la Santé et de la Recherche Médicale (INSERM), U613, Brest, France. claude.ferec@univ-brest.fr.
Claude
C
Férec
Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. cooperdn@cardiff.ac.uk.
David N
DN
Cooper