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人类遗传疾病中的基因转换。

Gene conversion in human genetic disease.

机构信息

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

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

出版信息

Genes (Basel). 2010 Dec 22;1(3):550-63. doi: 10.3390/genes1030550.

DOI:10.3390/genes1030550
PMID:24710102
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3966225/
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.

摘要

基因转换是一种特定类型的同源重组,涉及遗传物质从“供体”序列单向转移到高度同源的“受体”。我们最近回顾了基因转换的分子机制,探讨了这一过程在塑造现存人类基因方面所起的关键作用,并对已知导致人类遗传疾病的基因转换事件进行了荟萃分析。在这里,我们将简要总结致病性基因转换事件研究的一些最新进展,包括(i)同源重组中最小有效序列同源性(MESH)的新观点,(ii)似乎容易发生基因转换的局部 DNA 序列特征,(iii)基因转换和瞬时超突变性的机制比较,以及(iv)最近报道的致病性基因转换事件的例子。

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Front Endocrinol (Lausanne). 2021 Jul 30;12:709758. doi: 10.3389/fendo.2021.709758. eCollection 2021.
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High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies.高通量基因分型检测在人群研究中鉴定血型糖蛋白 B 缺失变异体。
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