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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 proce...

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Detalles Bibliográficos
Autores principales: Chen, Jian-Min, Férec, Claude, Cooper, David N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966225/
https://www.ncbi.nlm.nih.gov/pubmed/24710102
http://dx.doi.org/10.3390/genes1030550
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author Chen, Jian-Min
Férec, Claude
Cooper, David N.
author_facet Chen, Jian-Min
Férec, Claude
Cooper, David N.
author_sort Chen, Jian-Min
collection PubMed
description 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.
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spelling pubmed-39662252014-03-26 Gene Conversion in Human Genetic Disease Chen, Jian-Min Férec, Claude Cooper, David N. Genes (Basel) Review 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. MDPI 2010-12-22 /pmc/articles/PMC3966225/ /pubmed/24710102 http://dx.doi.org/10.3390/genes1030550 Text en © 2010 by the authors; licensee MDPI, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0/ This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Review
Chen, Jian-Min
Férec, Claude
Cooper, David N.
Gene Conversion in Human Genetic Disease
title Gene Conversion in Human Genetic Disease
title_full Gene Conversion in Human Genetic Disease
title_fullStr Gene Conversion in Human Genetic Disease
title_full_unstemmed Gene Conversion in Human Genetic Disease
title_short Gene Conversion in Human Genetic Disease
title_sort gene conversion in human genetic disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966225/
https://www.ncbi.nlm.nih.gov/pubmed/24710102
http://dx.doi.org/10.3390/genes1030550
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