Article ; Online: Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.
2021 Volume 66, Issue 12, Page(s) 1181–1184
Abstract: Human Y chromosomes frequently acquire structural and numerical alterations. Known alterations ... loss of the Y chromosome (mLOY). Here, we explored Y chromosomal variations in 160 Japanese men aged 75 ...
Abstract | 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. |
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MeSH term(s) | Aged ; Chromosome Aberrations ; Chromosomes, Human, Y/genetics ; DNA Copy Number Variations ; Genetic Association Studies ; Genetic Variation ; Humans ; Male ; Phenotype |
Language | English |
Publishing date | 2021-06-09 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 1425192-9 |
ISSN | 1435-232X ; 1434-5161 |
ISSN (online) | 1435-232X |
ISSN | 1434-5161 |
DOI | 10.1038/s10038-021-00943-9 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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