Gene conversion in human genetic disease

التفاصيل البيبلوغرافية
العنوان: Gene conversion in human genetic disease
المؤلفون: David Neil Cooper, Jian-Min Chen, Claude Férec
المصدر: Genes
Genes, Vol 1, Iss 3, Pp 550-563 (2010)
بيانات النشر: MDPI Publishing, 2010.
سنة النشر: 2010
مصطلحات موضوعية: Genetics, Concerted evolution, lcsh:QH426-470, human inherited disease, homologous recombination, Disease, Review, Biology, DNA sequencing, lcsh:Genetics, Homologous chromosome, Human genome, Gene conversion, gene conversion mutation, Homologous recombination, QH426, Genetics (clinical), Sequence (medicine)
الوصف: 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.
وصف الملف: application/pdf
اللغة: English
تدمد: 2073-4425
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::696e3a7d4b537ad282e94d33d235c2f4
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....696e3a7d4b537ad282e94d33d235c2f4
قاعدة البيانات: OpenAIRE