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Genomic instability and the link to infertility: A focus on microsatellites and genomic instability syndromes

Wieland, Jack; Buchan, Sarah; Sen Gupta, Sioban; Mantzouratou, Anna; (2022) Genomic instability and the link to infertility: A focus on microsatellites and genomic instability syndromes. European Journal of Obstetrics & Gynecology and Reproductive Biology , 274 pp. 229-237. 10.1016/j.ejogrb.2022.06.001. Green open access

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Abstract

Infertility is associated to multiple types of different genomic instabilities and is a genetic feature of genomic instability syndromes. While the mismatch repair machinery contributes to the maintenance of genome integrity, surprisingly its potential role in infertility is overlooked. Defects in mismatch repair mechanisms contribute to microsatellite instability and genomic instability syndromes, due to the inability to repair newly replicated DNA. This article reviews the literature to date to elucidate the contribution of microsatellite instability to genomic instability syndromes and infertility. The key findings presented reveal microsatellite instability is poorly researched in genomic instability syndromes and infertility.

Type: Article
Title: Genomic instability and the link to infertility: A focus on microsatellites and genomic instability syndromes
Location: Ireland
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ejogrb.2022.06.001
Publisher version: https://doi.org/10.1016/j.ejogrb.2022.06.001
Language: English
Additional information: Copyright © 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/bync-nd/4.0/).
Keywords: Infertility; Microsatellite; instability; Recurrent miscarriage; Genomic instability syndrome; Mismatch repair
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL EGA Institute for Womens Health > Reproductive Health
URI: https://discovery.ucl.ac.uk/id/eprint/10175025
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