Recent Advances in Genes Involved in DNA Damage Repair and Meiosis Undergoing Premature Ovarian Insufficiency

doi:10.12280/gjszjk.20200624

Abstract

Abstract:

Premature ovarian insufficiency (POI) is a common endocrine disease in women, which can not only lead to osteoporosis, cardiovascular diseases and abnormal menstruation, but also seriously affect the fertility of women of childbearing age. With the rapid development of exome and genome sequencing, many genes involved in meiosis and DNA damage repair in the POI pathogenesis were found. The pathogenic factors of this disease are complex, so understanding the pathogenic factors is beneficial to clinical diagnosis and treatment. In this paper, the research progress of related genes and mutations in the early onset ovarian insufficiency, meiosis and DNA damage repair was reviewed.

Key words: Primary ovarian insufficiency, Mutation, Meiosis, DNA repair, Premature ovarian failure, Premature ovarian insufficiency

WANG Kai-juan, CHEN Bei-li, ZHU Qi, CAO Yun-xia, ZHANG Zhi-guo. Recent Advances in Genes Involved in DNA Damage Repair and Meiosis Undergoing Premature Ovarian Insufficiency[J]. Journal of International Reproductive Health/Family Planning, 2021, 40(3): 221-225.

References 36

[1]	陈子江, 田秦杰, 乔杰, 等. 早发性卵巢功能不全的临床诊疗中国专家共识[J]. 中华妇产科杂志, 2017,52(9):577-581. doi: 10.3760/cma.j.issn.0529-567x.2017.09.001.
[2]	Golezar S, Ramezani Tehrani F, Khazaei S, et al. The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis[J]. Climacteric, 2019,22(4):403-411. doi: 10.1080/13697137.2019.1574738. doi: 10.1080/13697137.2019.1574738 URL pmid: 30829083
[3]	陈海霞, 白晓红. 卵巢储备功能减退的相关分子遗传学研究进展[J]. 国际生殖健康/计划生育杂志, 2020,39(5):411-415. doi: 10.3969/j.issn.
[4]	Shohayeb B, Ho U, Yeap YY, et al. The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development[J]. Hum Mol Genet, 2020,29(2):248-263. doi: 10.1093/hmg/ddz281. doi: 10.1093/hmg/ddz281 URL
[5]	Wang YS, Jiao XF, Chen F, et al. WDR62 is a novel participator in spindle migration and asymmetric cytokinesis during mouse oocyte meiotic maturation[J]. Exp Cell Res, 2020,387(1):111773. doi: 10.1016/j.yexcr.2019.111773. doi: 10.1016/j.yexcr.2019.111773 URL
[6]	Zhou Y, Qin Y, Qin Y, et al. Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans[J]. PLoS Genet, 2018,14(8):e1007463. doi: 10.1371/journal.pgen.1007463. doi: 10.1371/journal.pgen.1007463 URL
[7]	Voet J, Ceulemans B, Kooy F, et al. PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy[J]. Am J Med Genet A, 2020,182(3):591-594. doi: 10.1002/ajmg.a.61463. doi: 10.1002/ajmg.a.v182.3 URL
[8]	Mak W, Xia J, Cheng EC, et al. A role of Pumilio 1 in mammalian oocyte maturation and maternal phase of embryogenesis[J]. Cell Biosci, 2018,8:54. doi: 10.1186/s13578-018-0251-1. doi: 10.1186/s13578-018-0251-1 URL
[9]	Mak W, Fang C, Holden T, et al. An Important Role of Pumilio 1 in Regulating the Development of the Mammalian Female Germline[J]. Biol Reprod, 2016,94(6):134. doi: 10.1095/biolreprod.115.137497.
[10]	Luo W, Ke H, Liu R, et al. Variation analysis of PUM1 gene in Chinese women with primary ovarian insufficiency[J]. J Assist Reprod Genet, 2018,35(4):727-731. doi: 10.1007/s10815-017-1110-4. doi: 10.1007/s10815-017-1110-4 URL
[11]	França MM, Nishi MY, Funari M, et al. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency[J]. Eur J Med Genet, 2019,62(3):186-189. doi: 10.1016/j.ejmg.2018.07.008. doi: 10.1016/j.ejmg.2018.07.008 URL
[12]	Heddar A, Dessen P, Flatters D, et al. Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency[J]. Mol Genet Genomics, 2019,294(6):1527-1534. doi: 10.1007/s00438-019-01594-4. doi: 10.1007/s00438-019-01594-4 URL
[13]	Xiao WJ, He WB, Zhang YX, et al. In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency[J]. Front Genet, 2019,10:1016. doi: 10.3389/fgene.2019.01016. doi: 10.3389/fgene.2019.01016 URL
[14]	蒋涵玮, 江小华, 叶经纬, 等. 联会复合体:减数分裂的结构基础[J]. 生理学报, 2020,72(1):84-90. doi: 10.13294/j.aps.2020.0009.
[15]	Hernández-López D, Geisinger A, Trovero MF, et al. Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice[J]. Mol Hum Reprod, 2020,26(7):485-497. doi: 10.1093/molehr/gaaa032. doi: 10.1093/molehr/gaaa032 URL
[16]	Zhe J, Ye D, Chen X, et al. Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency[J]. Reprod Sci, 2020,27(2):461-467. doi: 10.1007/s43032-019-00037-0. doi: 10.1007/s43032-019-00037-0 URL
[17]	Zhe J, Chen S, Chen X, et al. A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency[J]. J Ovarian Res, 2019,12(1):61. doi: 10.1186/s13048-019-0537-x. doi: 10.1186/s13048-019-0537-x URL
[18]	Shi J, Zhang B, Choi JY, et al. Age at menarche and age at natural menopause in East Asian women: a genome-wide association study[J]. Age(Dordr), 2016,38(5/6):513-523. doi: 10.1007/s11357-016-9939-5.
[19]	He WB, Tan C, Zhang YX, et al. Homozygous variants in SYCP2L cause premature ovarian insufficiency[J]. J Med Genet, 2021,58(3):168-172. doi: 10.1136/jmedgenet-2019-106789. doi: 10.1136/jmedgenet-2019-106789 URL
[20]	Lutzmann M, Grey C, Traver S, et al. MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination[J]. Mol Cell, 2012,47(4):523-534. doi: 10.1016/j.molcel.2012.05.048. doi: 10.1016/j.molcel.2012.05.048 URL
[21]	Zhang YX, He WB, Xiao WJ, et al. Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency[J]. Mol Genet Genomic Med, 2020,8(4):e1165. doi: 10.1002/mgg3.1165.
[22]	Heddar A, Beckers D, Fouquet B, et al. A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation[J]. J Clin Endocrinol Metab, 2020, 105(6):dgaa155. doi: 10.1210/clinem/dgaa155.
[23]	Guo T, Zhao S, Zhao S, et al. Mutations in MSH5 in primary ovarian insufficiency[J]. Hum Mol Genet, 2017,26(8):1452-1457. doi: 10.1093/hmg/ddx044. doi: 10.1093/hmg/ddx044 URL
[24]	Adelman CA, Lolo RL, Birkbak NJ, et al. HELQ promotes RAD51 paralogue-dependent repair to avert germ cell loss and tumorigenesis[J]. Nature, 2013,502(7471):381-384. doi: 10.1038/nature12565. doi: 10.1038/nature12565 URL pmid: 24005329
[25]	Stolk L, Perry JR, Chasman DI, et al. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways[J]. Nat Genet, 2012,44(3):260-268. doi: 10.1038/ng.1051. doi: 10.1038/ng.1051 URL
[26]	Wang W, Zhao S, Zhuang L, et al. The screening of HELQ gene in Chinese patients with premature ovarian failure[J]. Reprod Biomed Online, 2015,31(4):573-576. doi: 10.1016/j.rbmo.2015.06.012. doi: 10.1016/j.rbmo.2015.06.012 URL
[27]	Xu X, Zhang Y, Zhao S, et al. Mutational analysis of the FAM175A gene in patients with premature ovarian insufficiency[J]. Reprod Biomed Online, 2019,38(6):943-950. doi: 10.1016/j.rbmo.2019.02.006. doi: 10.1016/j.rbmo.2019.02.006 URL
[28]	Liu W, Wang G, Palovcak A, et al. Impeding the single-strand annealing pathway of DNA double-strand break repair by withaferin A-mediated FANCA degradation[J]. DNA Repair(Amst), 2019,77:10-17. doi: 10.1016/j.dnarep.2019.02.010.
[29]	Yang X, Zhang X, Jiao J, et al. Rare variants in FANCA induce premature ovarian insufficiency[J]. Hum Genet, 2019,138(11/12):1227-1236. doi: 10.1007/s00439-019-02059-9. doi: 10.1007/s00439-019-02059-9 URL
[30]	Qin Y, Guo T, Li G, et al. CSB-PGBD3 Mutations Cause Premature Ovarian Failure[J]. PLoS Genet, 2015,11(7):e1005419. doi: 10.1371/journal.pgen.1005419. doi: 10.1371/journal.pgen.1005419 URL
[31]	Su S, Han T, Ma B, et al. Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure[J]. Reprod Biomed Online, 2016,32(3):329-333. doi: 10.1016/j.rbmo.2015.12.003. doi: 10.1016/j.rbmo.2015.12.003 URL
[32]	Turan V, Bedoschi G, Emirdar V, et al. Ovarian Stimulation in Patients With Cancer: Impact of Letrozole and BRCA Mutations on Fertility Preservation Cycle Outcomes[J]. Reprod Sci, 2018,25(1):26-32. doi: 10.1177/1933719117728800. doi: 10.1177/1933719117728800 URL
[33]	Lambertini M, Goldrat O, Ferreira AR, et al. Reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients[J]. Ann Oncol, 2018,29(1):237-243. doi: 10.1093/annonc/mdx639. doi: 10.1093/annonc/mdx639 URL
[34]	Gunnala V, Fields J, Irani M, et al. BRCA carriers have similar reproductive potential at baseline to noncarriers: comparisons in cancer and cancer-free cohorts undergoing fertility preservation[J]. Fertil Steril, 2019,111(2):363-371. doi: 10.1016/j.fertnstert.2018.10.014. doi: 10.1016/j.fertnstert.2018.10.014 URL
[35]	Miao Y, Wang P, Xie B, et al. BRCA2 deficiency is a potential driver for human primary ovarian insufficiency[J]. Cell Death Dis, 2019,10(7):474. doi: 10.1038/s41419-019-1720-0. doi: 10.1038/s41419-019-1720-0 URL
[36]	Porcu E, Cillo GM, Cipriani L, et al. Impact of BRCA1 and BRCA2 mutations on ovarian reserve and fertility preservation outcomes in young women with breast cancer[J]. J Assist Reprod Genet, 2020,37(3):709-715. doi: 10.1007/s10815-019-01658-9. doi: 10.1007/s10815-019-01658-9 URL