Homozygous variants in

Male Humans Asthenozoospermia / genetics Mutation Semen / metabolism Sperm Tail / metabolism Spermatozoa / metabolism Infertility, Male / genetics Abnormalities, Multiple / genetics A Kinase Anchor Proteins / genetics
genetic variation genetics, medical men's health reproductive medicine

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
02 2023
Historique:
received: 17 10 2021
accepted: 08 02 2022
pubmed: 2 3 2022
medline: 27 1 2023
entrez: 1 3 2022
Statut: ppublish

Résumé

As a common type of asthenoteratozoospermia, multiple morphological abnormalities of the sperm flagella (MMAF) can cause male infertility. Previous studies have revealed genetic factors as a major cause of MMAF. The known MMAF-associated genes are involved in the mitochondrial sheath, outer dense fibre or axoneme of the sperm flagella. These findings indicate the genetic heterogeneity of MMAF. Here, we conducted genetic analyses using whole-exome sequencing in a cohort of 150 Han Chinese men with asthenoteratozoospermia. Homozygous deleterious variants of Our study revealed

Sections du résumé

BACKGROUND
As a common type of asthenoteratozoospermia, multiple morphological abnormalities of the sperm flagella (MMAF) can cause male infertility. Previous studies have revealed genetic factors as a major cause of MMAF. The known MMAF-associated genes are involved in the mitochondrial sheath, outer dense fibre or axoneme of the sperm flagella. These findings indicate the genetic heterogeneity of MMAF.
METHODS AND RESULTS
Here, we conducted genetic analyses using whole-exome sequencing in a cohort of 150 Han Chinese men with asthenoteratozoospermia. Homozygous deleterious variants of
CONCLUSIONS
Our study revealed

Identifiants

DOI: 10.1136/jmedgenet-2021-108271 PMID: 35228300
pubmed: 35228300
pii: jmedgenet-2021-108271
doi: 10.1136/jmedgenet-2021-108271
doi:

Substances chimiques

AKAP3 protein, human 0
A Kinase Anchor Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

137-143

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Chunyu Liu (C)

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai, China.
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, China.

Ying Shen (Y)

Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
ORCID: 0000-0002-6346-1002

Shuyan Tang (S)

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai, China.
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, China.

Jiaxiong Wang (J)

Center for Reproduction and Genetics, State Key Laboratory of Reproductive Medicine, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China.

Yiling Zhou (Y)

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai, China.
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, China.

Shixiong Tian (S)

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai, China.
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, China.

Huan Wu (H)

Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
Key Laboratory of Population Health Across Life Cycle, Ministry of Education of the People's Republic of China, Anhui Medical University, Hefei, Anhui, China.

Jiangshan Cong (J)

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai, China.
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, China.

Xiaojin He (X)

Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
Key Laboratory of Population Health Across Life Cycle, Ministry of Education of the People's Republic of China, Anhui Medical University, Hefei, Anhui, China.
ORCID: 0000-0001-5919-8478

Li Jin (L)

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai, China.

Yunxia Cao (Y)

Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Anhui Medical University, Hefei, Anhui, China.
Key Laboratory of Population Health Across Life Cycle, Ministry of Education of the People's Republic of China, Anhui Medical University, Hefei, Anhui, China.

Yihong Yang (Y)

Center of Reproductive Medicine, West China Second University Hospital, Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects, Ministry of Education, Sichuan University, Chengdu, Sichuan, China zhangfeng@fudan.edu.cn yyhpumc@foxmail.com.

Feng Zhang (F)

Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai, China zhangfeng@fudan.edu.cn yyhpumc@foxmail.com.
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Institute of Reproduction and Development, Fudan University, Shanghai, China.
ORCID: 0000-0003-4556-8276

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Homozygous variants in
questionsmedicales.fr › Maladies urogénitales › Maladies urogénitales de l'homme › Maladies de l'appareil génital mâle › Infertilité masculine › Asthénozoospermie › Homozygous variants in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Homozygous variants in
questionsmedicales.fr › Liquides et sécrétions biologiques › Sécrétions corporelles › Sperme › Homozygous variants in
questionsmedicales.fr › Cellules › Cellules germinales › Spermatozoïdes › Flagelle du spermatozoïde › Homozygous variants in
questionsmedicales.fr › Cellules › Cellules germinales › Spermatozoïdes › Homozygous variants in
questionsmedicales.fr › Maladies urogénitales › Maladies urogénitales de l'homme › Maladies de l'appareil génital mâle › Infertilité masculine › Homozygous variants in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Homozygous variants in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines adaptatrices de la transduction du signal › Protéines d'ancrage aux protéines kinases A › Homozygous variants in