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Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification

Journal of Human Genetics volume 66, pages 1181–1184 (2021)Cite this article

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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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Acknowledgements

This research has been conducted using the ToMMo and the NCGG biobank resource under research numbers 2019–0038 and 1497, respectively.

Funding

JSPS (17H06428; 21H02464), AMED (20ek0109464h0001), National Center for Child Health and Development (2019A-1), Sandoz, and Takeda Science Foundation.

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Author notes

  1. These authors contributed equally: Yasuko Ogiwara, Mami Miyado

Authors and Affiliations

  1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

    Yasuko Ogiwara, Mami Miyado, Erina Suzuki & Maki Fukami

  2. Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Tokyo, Japan

    Yasuko Ogiwara

  3. Medical genome center, National Center for Geriatrics and Gerontology Research Institute, Obu, Japan

    Sumpei Niida & Kouichi Ozaki

Authors
  1. Yasuko Ogiwara
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  2. Mami Miyado
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  3. Erina Suzuki
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  4. Sumpei Niida
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  5. Kouichi Ozaki
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  6. Maki Fukami
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Correspondence to Maki Fukami.

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Ogiwara, Y., Miyado, M., Suzuki, E. et al. Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification. J Hum Genet 66, 1181–1184 (2021). https://doi.org/10.1038/s10038-021-00943-9

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  • DOI: https://doi.org/10.1038/s10038-021-00943-9

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