DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.
Journal
Communications biology
ISSN: 2399-3642
Titre abrégé: Commun Biol
Pays: England
ID NLM: 101719179
Informations de publication
Date de publication:
31 03 2023
31 03 2023
Historique:
received:
03
12
2022
accepted:
15
03
2023
medline:
3
4
2023
entrez:
30
3
2023
pubmed:
31
3
2023
Statut:
epublish
Résumé
Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-established genetic causes for NOA and are routinely analysed in the diagnostic workup of affected men. So far, it is unclear which of the three genes located in the AZFa chromosomal region is indispensible for germ cell maturation. Here we present four different likely pathogenic loss-of-function variants in the AZFa gene DDX3Y identified by analysing exome sequencing data of more than 1,600 infertile men. Three of the patients underwent testicular sperm extraction and revealed the typical AZFa testicular Sertoli cell-only phenotype. One of the variants was proven to be de novo. Consequently, DDX3Y represents the AZFa key spermatogenic factor and screening for variants in DDX3Y should be included in the diagnostic workflow.
Identifiants
pubmed: 36997603
doi: 10.1038/s42003-023-04714-4
pii: 10.1038/s42003-023-04714-4
pmc: PMC10063662
doi:
Substances chimiques
DDX3Y protein, human
EC 3.6.1.-
DEAD-box RNA Helicases
EC 3.6.4.13
Minor Histocompatibility Antigens
0
SP3 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
350Subventions
Organisme : NICHD NIH HHS
ID : R01 HD078641
Pays : United States
Informations de copyright
© 2023. The Author(s).
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