Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-g7gxr Total loading time: 0 Render date: 2024-11-07T03:39:54.616Z Has data issue: false hasContentIssue false

Chapter 9 - Genetics of Human Female Infertility

Published online by Cambridge University Press:  15 December 2022

Stéphane Viville
Affiliation:
Laboratoire de Génétique Médicale de Strasbourg and Laboratoire de diagnostic génétique, Strasbourg
Karen D. Sermon
Affiliation:
Reproduction and Genetics Research Group, Vrije Universiteit Brussel
Get access

Summary

Infertility is a genetically heterogeneous condition affecting about 10% of women of reproductive age. Genetic studies on animal models have identified thousands of candidate genes that are essential for gonadal development, germline cell differentiation, complex oocyte–granulosa intercellular signaling, gametogenesis, fertilization, and fetal development. A subset of these candidate genes derived from animal models has been found to cause ovarian dysfunction and infertility in humans.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2023

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Yatsenko, SA, Rajkovic, A. Genetics of human female infertility. Biol Reprod 2019;101(3):549–66.CrossRefGoogle ScholarPubMed
McGee, EA, Hsueh, AJ. Initial and cyclic recruitment of ovarian follicles. Endocr Rev 2000;21:200–14.Google Scholar
Pangas, SA, Rajkovic, A. Transcriptional regulation of early oogenesis: in search of masters. Hum Reprod Update 2006;12:6576.CrossRefGoogle ScholarPubMed
Choi, Y, Rajkovic, A. Characterization of NOBOX DNA binding specificity and its regulation of Gdf9 and Pou5f1 promoters. J Biol Chem 2006;281:35747–56.Google Scholar
Shin, YH, Ren, Y, Suzuki, H, et al. Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I. J Clin Invest 2017;127:2106–17.Google Scholar
Hanley, NA, Ikeda, Y, Luo, X, Parker, KL. Steroidogenic factor 1 (SF-1) is essential for ovarian development and function. Mol Cell Endocrinol 2000;163(1–2):2732.Google Scholar
Eggers, S, Ohnesorg, T, Sinclair, A. Genetic regulation of mammalian gonad development. Nat Rev Endocrinol 2014;11:673–83.Google Scholar
Weinberg-Shukron, A, Rachmiel, M, Renbaum, P, et al. Essential role of BRCA2 in ovarian development and function. N Engl J Med 2018;379:1042–9.Google Scholar
Wood, MA, Rajkovic, A. Genomic markers of ovarian reserve. Semin Reprod Med 2013;31:399415.Google Scholar
Rajkovic, A, Pangas, S. Ovary as a biomarker of health and longevity: insights from genetics. Semin Reprod Med 2017;35:231–40.Google Scholar
Richards, JS, Ren, YA, Candelaria, N, Adams, JE, Rajkovic, A. Ovarian follicular theca cell recruitment, differentiation, and impact on fertility: 2017 update. Endocr Rev 2018;39:120.CrossRefGoogle ScholarPubMed
Persani, L, Rossetti, R, Di Pasquale, E, Cacciatore, C, Fabre, S. The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Hum Reprod Update 2014;20:869–83.Google Scholar
Zhao, H, Qin, Y, Kovanci, E, et al. Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. Fertil Steril 2007;88:1474–6.CrossRefGoogle ScholarPubMed
Caburet, S, Arboleda, VA, Llano, E, et al. Mutant cohesin in premature ovarian failure. N Engl J Med 2014;370:943–9.Google Scholar
MacLennan, M, Crichton, JH, Playfoot, CJ, Adams, IR. Oocyte development, meiosis and aneuploidy. Semin Cell Dev Biol 2015;45:6876.Google Scholar
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;95:754–62.Google Scholar
AlAsiri, S, Basit, S, Wood-Trageser, MA, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest 2015;125:258–62.CrossRefGoogle ScholarPubMed
Desai, S, Rajkovic, A. Genetics of reproductive aging from gonadal dysgenesis through menopause. Semin Reprod Med 2017;35:147–59.Google Scholar
Yatsenko, SA, Wood-Trageser, M, Chu, T, Jiang, H, Rajkovic, A. A high-resolution X chromosome copy number variation map in fertile females and women with primary ovarian insufficiency. Genet Med 2019;21(10):2275–84.Google Scholar
Franco, B, Ballabio, A. X-inactivation and human disease: X-linked dominant male-lethal disorders. Curr Opin Genet Dev 2006;16:254–9.Google Scholar
Gupta, SK. The human egg’s zona pellucida. Curr Top Dev Biol 2018;130:379411.CrossRefGoogle ScholarPubMed
Feng, R, Sang, Q, Kuang, Y, et al. Mutations in TUBB8 and human oocyte meiotic arrest. N Engl J Med 2016;374:223–32.Google Scholar
Shahine, LK, Marshall, L, Lamb, JD, Hickok, LR. Higher rates of aneuploidy in blastocysts and higher risk of no embryo transfer in recurrent pregnancy loss patients with diminished ovarian reserve undergoing in vitro fertilization. Fertil Steril 2016;106:1124–8.Google Scholar
Delhanty, JD, SenGupta, SB, Ghevaria, H. How common is germinal mosaicism that leads to premeiotic aneuploidy in the female? J Assist Reprod Genet 2019;36(12):2403–18.Google Scholar
Dong, Z, Yan, J, Xu, F, et al. Genome sequencing explores complexity of chromosomal abnormalities in recurrent miscarriage. Am J Hum Genet 2019;105(6):1102–11.Google Scholar
Dawes, R, Lek, M, Cooper, ST. Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. NPJ Genom Med 2019;4:8.Google Scholar
Suo, L, Zhou, YX, Jia, LL, et al. Transcriptome profiling of human oocytes experiencing recurrent total fertilization failure. Sci Rep 2018;8:17890.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×