دورية أكاديمية
أعرض في EDS

Oligogenic heterozygous inheritance of sperm abnormalities in mouse.

التفاصيل البيبلوغرافية
العنوان: Oligogenic heterozygous inheritance of sperm abnormalities in mouse.
المؤلفون: Martinez G; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France.; UM de Génétique Chromosomique, Hôpital Couple-Enfant, CHU Grenoble Alpes, Grenoble, France., Coutton C; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France.; UM de Génétique Chromosomique, Hôpital Couple-Enfant, CHU Grenoble Alpes, Grenoble, France., Loeuillet C; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Cazin C; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France.; UM GI-DPI, CHU Grenoble Alpes, Grenoble, France., Muroňová J; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Boguenet M; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Lambert E; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Dhellemmes M; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Chevalier G; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Hograindleur JP; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Vilpreux C; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Neirijnck Y; Department of Genetic Medicine and Development, University of Geneva Medical School, Genève, Switzerland., Kherraf ZE; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France.; UM GI-DPI, CHU Grenoble Alpes, Grenoble, France., Escoffier J; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France., Nef S; Department of Genetic Medicine and Development, University of Geneva Medical School, Genève, Switzerland., Ray PF; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France.; UM GI-DPI, CHU Grenoble Alpes, Grenoble, France., Arnoult C; Institute for Advanced Biosciences, INSERM, CNRS, Université Grenoble Alpes, Grenoble, France.; Station de Primatologie, UPS 846, CNRS, Rousset, France.
المصدر: ELife [Elife] 2022 Apr 22; Vol. 11. Date of Electronic Publication: 2022 Apr 22.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Cambridge, UK : eLife Sciences Publications, Ltd., 2012-
مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Asthenozoospermia*/genetics , Infertility, Male*/genetics, Humans ; Male ; Multifactorial Inheritance ; Mutation ; Sperm Tail ; Spermatozoa
مستخلص: Male infertility is an important health concern that is expected to have a major genetic etiology. Although high-throughput sequencing has linked gene defects to more than 50% of rare and severe sperm anomalies, less than 20% of common and moderate forms are explained. We hypothesized that this low success rate could at least be partly due to oligogenic defects - the accumulation of several rare heterozygous variants in distinct, but functionally connected, genes. Here, we compared fertility and sperm parameters in male mice harboring one to four heterozygous truncating mutations of genes linked to multiple morphological anomalies of the flagellum (MMAF) syndrome. Results indicated progressively deteriorating sperm morphology and motility with increasing numbers of heterozygous mutations. This first evidence of oligogenic inheritance in failed spermatogenesis strongly suggests that oligogenic heterozygosity could explain a significant proportion of asthenoteratozoospermia cases. The findings presented pave the way to further studies in mice and man.
Competing Interests: GM, CC, CL, CC, JM, MB, EL, MD, GC, JH, CV, YN, ZK, JE, SN, PR, CA No competing interests declared
(© 2022, Martinez et al.)
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فهرسة مساهمة: Keywords: MMAF; cell biology; heredity; infertility; mouse; oligogenism; sperm abnormalities
تواريخ الأحداث: Date Created: 20220422 Date Completed: 20220509 Latest Revision: 20220913
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9071268
DOI: 10.7554/eLife.75373
PMID: 35451961
قاعدة البيانات: MEDLINE
الوصف
تدمد:2050-084X
DOI:10.7554/eLife.75373