Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
09
03
2021
accepted:
27
05
2021
revised:
09
05
2021
pubmed:
11
6
2021
medline:
8
3
2022
entrez:
10
6
2021
Statut:
ppublish
Résumé
Human Y chromosomes frequently acquire structural and numerical alterations. Known alterations include germline copy-number variations (CNVs) in the azoospermia factor (AZF) region and somatic mosaic loss of the Y chromosome (mLOY). Here, we explored Y chromosomal variations in 160 Japanese men aged 75-90 years. Multiplex ligation-dependent probe amplification (MLPA) identified ten types of AZF-linked CNVs in 77 men and mLOY of various degrees in 37. Seventeen men carried both a CNV and mLOY. MLOY levels estimated by MLPA were closely correlated with those determined by droplet digital PCR. No association was found between AZF-linked CNVs and the frequency or levels of mLOY. These results emphasize the high frequency and large inter-individual variability of AZF-linked CNVs and mLOY, and demonstrate the usefulness of MLPA in the detection of these variations. More importantly, this study provides the first evidence that AZF-linked CNVs do not increase the risk of aging-related mLOY.
Identifiants
pubmed: 34108640
doi: 10.1038/s10038-021-00943-9
pii: 10.1038/s10038-021-00943-9
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1181-1184Subventions
Organisme : Japan Agency for Medical Research and Development (AMED)
ID : 20ek0109464h0001
Organisme : National Center for Child Health and Development (NCCHD)
ID : 2019A-1
Informations de copyright
© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.
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