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Review
. 2020 Apr;43(2):115-123.
doi: 10.1016/j.bj.2020.03.005. Epub 2020 May 4.

Primary ovarian insufficiency, meiosis and DNA repair

Reiner A Veitia  1
Affiliations
Review

Primary ovarian insufficiency, meiosis and DNA repair

Reiner A Veitia. Biomed J. 2020 Apr.

Abstract

Premature ovarian insufficiency (POI) is a major cause of female infertility. It is a heterogeneous disease that affects about 1% of women under 40 years of age. POI may be due to abnormal follicle stock formation, increased follicular atresia, impaired recruitment of dominant follicles, blocked follicular maturation or rapid depletion of the follicular stock. It remains idiopathic in most cases but the existence of familial cases shows that it can have a genetic origin. Next generation sequencing (NGS) strategies have allowed the identification of new genes involved in the etiology of POI. Here, I briefly describe some studies demonstrating that pathogenic variants in 'DNA repair and meiotic genes' underlie POI. Some of the examples show the power of the combination of classical genetics and NGS in the discovery of novel 'POI genes'.

Keywords: DNA repair; Meiosis; Ovarian failure; Premature ovarian insufficiency.

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Conflict of interest statement

Conflicts of Interest The author has no conflict of interest to declare.

Figures

Fig. 1
Fig. 1
Outline of variant filtering when using Next Generation Sequencing. gnomAD (https://gnomad.broadinstitute.org).
Fig. 2
Fig. 2
Example of the implication of a STAG3 variant in POI.
Fig. 3
Fig. 3
Outline of the process of homolgous recombination taking place during meiosis. The names of several gene products discussed in the text are mentioned but the list is not exhaustive.
Fig. 4
Fig. 4
Interloci interactions and POI.
Fig. 5
Fig. 5
Network of interaction of some proteins involved in meiosis and DNA repair. It involves those mentioned in the text or retrieved from the CORUM Database and further analysis using STRING [73]. The CORUM database, accessible at http://mips.helmholtz-muenchen.de/genre/proj/corum/about/corum.html, was queried with the word ‘meiosis’. The following list (REC8, SMC1b, SMC3, SYCP3, STAG3, MND1, PSMC3IP, SYCE1, SYCE2, SYCE3, CSB-PGBD3, MCM8, MCM9, MCM2-7, SPATA22, MEIOB, FANCM, MSH4, MSH5, HFM1, SYCP3, DMC1, RAD51, BRCA2, RPA1-2) was submitted to STRING to generate a graphical representation. The analysis was based on textmining, experiments and databases (interaction score 0.4) and included up to 5 interactors of a given node not included in the initial list. The level of interaction evidence is given by the thickness of the edges.
See this image and copyright information in PMC

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