Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent
Yasuko Ogiwara1,2, Mami Miyado1, Erina Suzuki1
1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Human Y chromosomes commonly undergo changes like copy-number variations (CNVs) and mosaic loss (mLOY). This study found no link between AZF-linked CNVs and aging-related mLOY in older Japanese men.
Area of Science:
- Genetics
- Human Biology
- Aging Research
Background:
- Human Y chromosomes are prone to structural and numerical changes.
- Germline copy-number variations (CNVs) in the azoospermia factor (AZF) region and somatic mosaic loss of the Y chromosome (mLOY) are known alterations.
Purpose of the Study:
- To investigate Y chromosomal variations, specifically AZF-linked CNVs and mLOY, in elderly Japanese men.
- To determine if AZF-linked CNVs are associated with the frequency or levels of aging-related mLOY.
Main Methods:
- Utilized multiplex ligation-dependent probe amplification (MLPA) to detect AZF-linked CNVs and mLOY in 160 Japanese men aged 75-90.
- Correlated MLPA-based mLOY levels with those determined by droplet digital PCR.
Main Results:
- Identified ten types of AZF-linked CNVs in 77 men and mLOY in 37 men.
- Found no association between AZF-linked CNVs and the frequency or levels of mLOY.
- MLPA proved useful for detecting these Y chromosomal variations.
Conclusions:
- AZF-linked CNVs and mLOY are frequent and highly variable in elderly men.
- This study provides the first evidence that AZF-linked CNVs do not elevate the risk of aging-related mLOY.
More Related Videos
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
05:53Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018