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Genetics of human female infertility

Biology of reproduction, 2019-09, Vol.101 (3), p.549-566 [Peer Reviewed Journal]

The Author(s) 2019. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com journals.permissions@oup.com ;The Author(s) 2019. Published by Oxford University Press on behalf of Society for the Study of Reproduction. ;COPYRIGHT 2019 Oxford University Press ;The Author(s) 2019. Published by Oxford University Press on behalf of Society for the Study of Reproduction. 2019 ;ISSN: 0006-3363 ;EISSN: 1529-7268 ;DOI: 10.1093/biolre/ioz084 ;PMID: 31077289

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Title:
Genetics of human female infertility
Author: Yatsenko, Svetlana A ; Rajkovic, Aleksandar
Subjects: Amenorrhea ; Animals ; Base sequence ; Cell cycle ; Chromosome abnormalities ; Chromosome deletion ; Chromosomes ; Deoxyribonucleic acid ; Disease Models, Animal ; DNA ; DNA repair ; DNA sequencing ; Embryo ; Embryonic development ; Embryonic Development - genetics ; Female ; Female infertility ; Females ; Fetal development ; follicular development ; Genes ; Genetic aspects ; Genetic research ; Genetics ; Genitalia ; Genomes ; Gynecology ; Humans ; Infertility ; Infertility, Female - genetics ; Maternal-Fetal Relations - physiology ; Methods ; Obstetrics ; oocyte development ; Oogenesis - genetics ; Ovarian Reserve - genetics ; Pathology ; Pregnancy ; preimplantation embryo ; premature ovarian failure ; Primary Ovarian Insufficiency - diagnosis ; Primary Ovarian Insufficiency - genetics ; Puberty ; Reproduction - genetics ; Reproductive system ; Reviews ; Signal Transduction - genetics ; X chromosome
Is Part Of: Biology of reproduction, 2019-09, Vol.101 (3), p.549-566
Description: About 10% of women of reproductive age are unable to conceive or carry a pregnancy to term. Female factors alone account for at least 35% of all infertility cases and comprise a wide range of causes affecting ovarian development, maturation of oocytes, and fertilization competence, as well as the potential of a fertilized egg for preimplantation development, implantation, and fetal growth. Genetic abnormalities leading to infertility in females comprise large chromosome abnormalities, submicroscopic chromosome deletion and duplications, and DNA sequence variations in the genes that control numerous biological processes implicated in oogenesis, maintenance of ovarian reserve, hormonal signaling, and anatomical and functional development of female reproductive organs. Despite the great number of genes implicated in reproductive physiology by the study of animal models, only a subset of these genes is associated with human infertility. In this review, we mainly focus on genetic alterations identified in humans and summarize recent knowledge on the molecular pathways of oocyte development and maturation, the crucial role of maternal-effect factors during embryogenesis, and genetic conditions associated with ovarian dysgenesis, primary ovarian insufficiency, early embryonic lethality, and infertility.
Publisher: United States: Society for the Study of Reproduction
Language: English
Identifier: ISSN: 0006-3363
EISSN: 1529-7268
DOI: 10.1093/biolre/ioz084
PMID: 31077289
Source: MEDLINE
Alma/SFX Local Collection
ProQuest Central

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Genetics of human female infertility

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