范可尼贫血途径与生育。

The Fanconi Anemia Pathway and Fertility.

机构信息

Genome Stability Unit, St Vincent's Institute of Medical Research, Fitzroy, VIC 3065, Australia; Department of Medicine (St. Vincent's Health), The University of Melbourne, Melbourne, VIC 3010, Australia.

出版信息

Trends Genet. 2019 Mar;35(3):199-214. doi: 10.1016/j.tig.2018.12.007. Epub 2019 Jan 22.

DOI:10.1016/j.tig.2018.12.007

PMID:30683429

Abstract

Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure and cancer predispositions. The past two decades have seen an explosion of data in the FA field, both in humans and other organisms, following the cloning of 22 FA genes. A common but notably understudied clinical feature of the disease is the reduced fertility of individuals with FA. This review focuses on the known causes of reduced fertility in FA, and integrates them with the emerging role of the FA pathway in double-strand break (DSB) repair at meiosis in a variety of organisms, as well as providing future directions for research and diagnostics.

摘要

范可尼贫血症（FA）是一种危及生命的综合征，其特征是骨髓衰竭和癌症易感性。在克隆了 22 个 FA 基因后，过去二十年中，无论是在人类还是其他生物体中，FA 领域的数据都呈爆炸式增长。该病的一个常见但明显研究不足的临床特征是 FA 患者的生育能力下降。这篇综述重点介绍了 FA 患者生育能力下降的已知原因，并将其与 FA 途径在各种生物体减数分裂中双链断裂（DSB）修复中的新兴作用相结合，同时为研究和诊断提供了未来的方向。