{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T11:27:08Z","timestamp":1769858828976,"version":"3.49.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109464h0001"],"award-info":[{"award-number":["20ek0109464h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2019A-1"],"award-info":[{"award-number":["2019A-1"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011218","name":"Novartis | Sandoz","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011218","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2021,12]]},"DOI":"10.1038\/s10038-021-00943-9","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T07:08:41Z","timestamp":1623222521000},"page":"1181-1184","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification"],"prefix":"10.1038","volume":"66","author":[{"given":"Yasuko","family":"Ogiwara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mami","family":"Miyado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erina","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumpei","family":"Niida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0028-1570","authenticated-orcid":false,"given":"Kouichi","family":"Ozaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,9]]},"reference":[{"key":"943_CR1","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1038\/nrg.2017.36","volume":"18","author":"MA Jobling","year":"2017","unstructured":"Jobling MA, Tyler-Smith C. Human Y-chromosome variation in the genome-sequencing era. Nat Rev Genet. 2017;18:485\u201397.","journal-title":"Nat Rev Genet"},{"key":"943_CR2","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1038\/ng1754","volume":"38","author":"S Repping","year":"2006","unstructured":"Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet. 2006;38:463\u20137.","journal-title":"Nat Genet"},{"key":"943_CR3","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1038\/jhg.2014.115","volume":"60","author":"K Saito","year":"2015","unstructured":"Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, et al. Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification. J Hum Genet. 2015;60:127\u201331.","journal-title":"J Hum Genet"},{"key":"943_CR4","doi-asserted-by":"publisher","first-page":"427","DOI":"10.3389\/fgene.2019.00427","volume":"10","author":"R Zhou","year":"2019","unstructured":"Zhou R, Cheng J, Ma D, Tan J, Wang Y, Hu P, et al. Identifying novel copy number variants in azoospermia factor regions and evaluating their effects on spermatogenic impairment. Front Genet. 2019;10:427.","journal-title":"Front Genet"},{"key":"943_CR5","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/j.ajhg.2018.07.007","volume":"103","author":"LS Teitz","year":"2018","unstructured":"Teitz LS, Pyntikova T, Skaletsky H, Page DC. Selection has countered high mutability to preserve the ancestral copy number of Y chromosome amplicons in diverse human lineages. Am J Hum Genet. 2018;103:261\u201375.","journal-title":"Am J Hum Genet"},{"key":"943_CR6","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1038\/ng.2966","volume":"46","author":"LA Forsberg","year":"2014","unstructured":"Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46:624\u20138.","journal-title":"Nat Genet"},{"key":"943_CR7","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1126\/science.1262092","volume":"347","author":"JP Dumanski","year":"2015","unstructured":"Dumanski JP, Rasi C, L\u00f6nn M, Maciew H, Ingelsson M, Giedraitis V. et al. Mutagenesis. Smoking is associated with mosaic loss of chromosome Y. Science. 2015;347:81\u20133.","journal-title":"Science"},{"key":"943_CR8","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1038\/s41586-019-1765-3","volume":"575","author":"DJ Thompson","year":"2019","unstructured":"Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, et al. Genetic predisposition to mosaic Y chromosome loss in blood. Nature. 2019;575:652\u20137.","journal-title":"Nature."},{"key":"943_CR9","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/s41431-019-0533-z","volume":"28","author":"M Danielsson","year":"2020","unstructured":"Danielsson M, Halvardson J, Davies H, Torabi Moghadam B, Mattisson J, Rychlicka-Buniowska E, et al. Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals. Eur J Hum Genet. 2020;28:349\u201357.","journal-title":"Eur J Hum Genet"},{"key":"943_CR10","first-page":"350","volume":"1","author":"M Miyado","year":"2019","unstructured":"Miyado M, Fukami M. Losing maleness: somatic Y chromosome loss at every stage of a man\u2019s life. FASEB Bioadv. 2019;1:350\u20132.","journal-title":"FASEB Bioadv"},{"key":"943_CR11","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1002\/ajmg.1320530204","volume":"53","author":"LY Hsu","year":"1994","unstructured":"Hsu LY. Phenotype\/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994;53:108\u201340.","journal-title":"Am J Med Genet"},{"key":"943_CR12","doi-asserted-by":"publisher","first-page":"2559","DOI":"10.1093\/humrep\/15.12.2559","volume":"15","author":"JP Siffroi","year":"2000","unstructured":"Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, et al. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod. 2000;15:2559\u201362.","journal-title":"Hum Reprod"},{"key":"943_CR13","doi-asserted-by":"publisher","first-page":"e8980","DOI":"10.1590\/1414-431x20198980","volume":"53","author":"L Li","year":"2020","unstructured":"Li L, Zhang H, Yang Y, Zhang H, Wang R, Jiang Y, et al. High frequency of Y chromosome microdeletions in male infertility patients with 45,X\/46,XY mosaicism. Braz J Med Biol Res. 2020;53:e8980.","journal-title":"Braz J Med Biol Res"},{"key":"943_CR14","doi-asserted-by":"publisher","first-page":"e0190667","DOI":"10.1371\/journal.pone.0190667","volume":"13","author":"A Kimura","year":"2018","unstructured":"Kimura A, Hishimoto A, Otsuka I, Okazaki S, Boku S, Horai T, et al. Loss of chromosome Y in blood, but not in brain, of suicide completers. PLos ONE. 2018;13:e0190667.","journal-title":"PLos ONE"},{"key":"943_CR15","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/pd.3860","volume":"32","author":"AS Willis","year":"2012","unstructured":"Willis AS, van den Veyver I, Eng CM. Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat Diagn. 2012;32:315\u201320.","journal-title":"Prenat Diagn"},{"key":"943_CR16","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1007\/s00439-020-02114-w","volume":"139","author":"X Guo","year":"2020","unstructured":"Guo X, Dai X, Zhou T, Wang H, Ni J, Xue J, et al. Mosaic loss of human Y chromosome: what, how and why. Hum Genet. 2020;139:421\u201346.","journal-title":"Hum Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00943-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00943-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00943-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T21:09:26Z","timestamp":1684616966000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00943-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,9]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["943"],"URL":"https:\/\/doi.org\/10.1038\/s10038-021-00943-9","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,9]]},"assertion":[{"value":"9 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 May 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"COMPETING INTERESTS"}}]}}