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Research Article

Mutational analysis of minichromosome maintenance complex component (MCM) family genes in Chinese Han women with polycystic ovarian syndrome

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Article: 2206912 | Received 14 Dec 2022, Accepted 10 Apr 2023, Published online: 03 May 2023

References

  • Azziz R, Carmina E, Chen Z, et al. Polycystic ovary syndrome. Nat Rev Dis Primers. 2016;2:1.
  • Ajmal N, Khan SZ, Shaikh R. Polycystic ovary syndrome (PCOS) and genetic predisposition: a review article. Eur J Obstet Gynecol Reprod Biol X. 2019;3:100060.
  • Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod. 2004;19(1):41–8.
  • Teede H, Deeks A, Moran L. Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan. BMC Med. 2010;8:41.
  • Merkin SS, Phy JL, Sites CK, et al. Environmental determinants of polycystic ovary syndrome. Fertil Steril. 2016;106(1):16–24.
  • Dadachanji R, Shaikh N, Mukherjee S. Genetic variants associated with hyperandrogenemia in PCOS pathophysiology. Genet Res Int. 2018;2018:7624932.
  • Dapas M, Sisk R, Legro RS, et al. Family-based quantitative trait meta-analysis implicates rare noncoding variants in DENND1A in polycystic ovary syndrome. J Clin Endocrinol Metab. 2019;104(9):3835–3850.
  • Day F, Karaderi T, Jones MR, et al. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. PLoS Genet. 2018;14(12):e1007813.
  • Hayes MG, Urbanek M, Ehrmann DA, et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in european ancestry populations. Nat Commun. 2015;6:7502.
  • Day FR, Hinds DA, Tung JY, et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat Commun. 2015;6:8464.
  • Shi Y, Zhao H, Shi Y, et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet. 2012;44(9):1020–1025.
  • Chen ZJ, Zhao H, He L, et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat Genet. 2011;43(1):55–59.
  • Verdiesen RMG, Van der Schouw YT, Van Gils CH, et al. Genome-wide association study meta-analysis identifies three novel loci for circulating anti-Müllerian hormone levels in women. Hum Reprod. 2022;37(5):1069–1082.
  • Masai H, You Z, Arai K. Control of DNA replication: regulation and activation of eukaryotic replicative helicase, MCM. IUBMB Life. 2005;57(4–5):323–335.
  • Das SP, Rhind N. How and why multiple MCMs are loaded at origins of DNA replication. Bioessays. 2016;38(7):613–617.
  • Chattopadhyay S, Bielinsky AK. Human Mcm10 regulates the catalytic subunit of DNA polymerase-alpha and prevents DNA damage during replication. Mol Biol Cell. 2007;18(10):4085–4095.
  • Nishimura K, Ishiai M, Horikawa K, et al. Mcm8 and Mcm9 form a complex that functions in homologous recombination repair induced by DNA interstrand crosslinks. Mol Cell. 2012;47(4):511–522.
  • Lutzmann M, Grey C, Traver S, et al. MCM8- and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination. Mol Cell. 2012;47(4):523–534.
  • AlAsiri S, Basit S, Wood-Trageser MA, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015;125(1):258–262.
  • Looke M, Maloney MF, Bell SP. Mcm10 regulates DNA replication elongation by stimulating the CMG replicative helicase. Genes Dev. 2017;31(3):291–305.
  • Vetro A, Savasta S, Russo Raucci A, et al. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. Eur J Hum Genet. 2017;25(5):646–650.
  • Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, et al. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J Med Genet. 2015;52(6):391–399.
  • Fauchereau F, Shalev S, Chervinsky E, et al. A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. Clin Genet. 2016;89(5):603–607.
  • Qin C, Yuan Z, Yao J, et al. AMH and AMHR2 genetic variants in chinese women with primary ovarian insufficiency and normal age at natural menopause. Reprod Biomed Online. 2014;29(3):311–318.
  • Kumar R, Alwani M, Kosta S, et al. BMP15 and GDF9 gene mutations in premature ovarian failure. J Reprod Infertil. 2017;18(1):185–189.
  • Sproul K, Jones MR, Mathur R, et al. Association study of four key folliculogenesis genes in polycystic ovary syndrome. BJOG. 2010;117(6):756–760.
  • Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril. 2004;81(1):19–25.
  • Ishimi Y. Regulation of MCM2-7 function. Genes Genet Syst. 2018;93(4):125–133.
  • Yu S, Wang G, Shi Y, et al. MCMs in cancer: prognostic potential and mechanisms. Anal Cell Pathol (Amst). 2020;2020:3750294.
  • Alvarez-Mora MI, Todeschini AL, Caburet S, et al. An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes. Clin Genet. 2020;98(3):293–298.
  • Chen S, Wang G, Zheng X, et al. Whole-exome sequencing of a large chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes. Hum Mol Genet. 2020;29(14):2451–2459.
  • Zhang YX, He WB, Xiao WJ, et al. Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency. Mol Genet Genomic Med. 2020;8(4):e1165.
  • Janani DM, Ramasubramanyan S, Chellappa V, et al. Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort. J Hum Genet. 2023;68(1):39–46.
  • Feng W, Zhang Y, Pan Y, et al. Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern chinese women. Reprod Biol Endocrinol. 2021; 719(1):5.
  • Deegan TD, Yeeles JT, Diffley JF. Phosphopeptide binding by Sld3 links Dbf4-dependent kinase to MCM replicative helicase activation. EMBO J. 2016;35(9):961–973.
  • Izumi M, Mizuno T, Yanagi KI, et al. The Mcm2-7-interacting domain of human mini-chromosome maintenance 10 (Mcm10) protein is important for stable chromatin association and origin firing. J Biol Chem. 2017;292(31):13008–13021.
  • Abe E, Kuwahara K, Yoshida M, et al. Structure, expression, and chromosomal localization of the human gene encoding a germinal center-associated nuclear protein (GANP) that associates with MCM3 involved in the initiation of DNA replication. Gene. 2000;255(2):219–227.
  • Gao J, Wang Q, Dong C, et al. Whole exome sequencing identified MCM2 as a novel causative gene for autosomal dominant nonsyndromic deafness in a chinese family. PLoS One. 2015;10(7):e0133522.
  • Takei Y, Assenberg M, Tsujimoto G, et al. The MCM3 acetylase MCM3AP inhibits initiation, but not elongation, of DNA replication via interaction with MCM3. J Biol Chem. 2002;277(45):43121–43125.
  • Shimi Y, Irie D. G364R mutation of MCM4 detected in human skin cancer cells affects DNA helicase activity of MCM4/6/7 complex. J Biochem. 2015;157(6):561–569.
  • Tatsumi R, Ishimi Y. An MCM4 mutation detected in cancer cells affects MCM4/6/7 complex formation. J Biochem. 2017;161(3):259–268.
  • Wood-Trageser MA, Gurbuz F, Yatsenko SA, et al. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. Am J Hum Genet. 2014;95(6):754–762.
  • Ravindran E, Gutierrez de Velazco C, Ghazanfar A, et al. Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability. J Med Genet. 2022;59(5):453–461.
  • Guo T, Zheng Y, Li G, et al. Novel pathogenic mutations in minichromosome maintenance complex component 9 (MCM9) responsible for premature ovarian insufficiency. Fertil Steril. 2020;113(4):845–852.
  • Wang F, Guo S, Li P. Two novel mutations in the MCM8 gene shared by two chinese siblings with primary ovarian insufficiency and short stature. Mol Genet Genomic Med. 2020;8(9):e1396.
  • Sedghi M, Moslemi AR, Cabrera-Serrano M, et al. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Brain Commun. 2019;1(1):fcz011.
  • Wang Y, Chen H, Zhang J, et al. MCM family in gastrointestinal cancer and other malignancies: from functional characterization to clinical implication. Biochim Biophys Acta Rev Cancer. 2020;1874(2):188415.
  • Guney G, Taşkın MI, Sener N, et al. The role of ERK-1 and ERK-2 gene polymorphisms in PCOS pathogenesis. Reprod Biol Endocrinol. 2022;20(1):95.