Evolution of the Japanese Y chromosome by analysis of the haplogroups and the deletion of the gene in the AZFc region

de Carvalho CMB, Zuccherato LW, Fujisawa M, Shirakawa T, Ribeiro-Dos-Santos AKC, Santos SEB, Pena SDJ, Santos FR (2006) Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males. J Hum Genet 51:794–799. https://doi.org/10.1007/s10038-006-0024-2

Article  PubMed  CAS  Google Scholar 

Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH (2004) A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 74:180–187. https://doi.org/10.1086/381132

Article  PubMed  CAS  Google Scholar 

Hallast P, Kibena L, Punab M, Arciero E, Rootsi S, Grigorova M, Flores R, Jobling MA, Poolamets O, Pomm K et al (2021) A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. Elife 10:e65420. https://doi.org/10.7554/eLife.65420

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C et al (2023) Assembly of 43 human Y chromosomes reveals extensive complexity and variation. Nature 621:355–364. https://doi.org/10.1038/s41586-023-06425-6

Article  PubMed  PubMed Central  CAS  Google Scholar 

Inoue M, Sato Y (2024) An update and frequency distribution of Y chromosome haplogroups in modern Japanese males. J Hum Genet 69:107–114. https://doi.org/10.1038/s10038-023-01214-5

Article  PubMed  CAS  Google Scholar 

Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008) New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 18:830–838. https://doi.org/10.1101/gr.7172008

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S et al (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279–286. https://doi.org/10.1038/ng757

Article  PubMed  CAS  Google Scholar 

Nakagawa Y, Tada A, Kojo K, Tsuchiya H, Kurobe M, Uchida M, Yamasaki K, Iwamoto T, Sato Y (2023) Analysis of the correlation between gene copy deletion in the AZFc region and male infertility in Japanese men. Reprod Biol 23:100728. https://doi.org/10.1016/j.repbio.2022.100728

Article  PubMed  CAS  Google Scholar 

Ravel C, Chantot-Bastaraud S, El HB, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K (2009) Y-chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril 92:1924–1933. https://doi.org/10.1016/j.fertnstert.2008.08.135

Article  PubMed  CAS  Google Scholar 

Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC et al (2004) A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 83:1046–1052. https://doi.org/10.1016/j.ygeno.2003.12.018

Article  PubMed  CAS  Google Scholar 

Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA et al (2023) The complete sequence of a human Y chromosome. Nature 621:344–354. https://doi.org/10.1038/s41586-023-06457-y

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sato Y, Shinka T, Iwamoto T, Yamauchi A, Nakahori Y (2013) Y chromosome haplogroup d2* lineage is associated with azoospermia in Japanese males. Biol Reprod 88:107. https://doi.org/10.1095/biolreprod.112.105718

Article  PubMed  CAS  Google Scholar 

Sato Y, Shinka T, Ashraf AE, Yamauchi A, Iwamoto T, Nakahori Y (2014) Overview of genetic variation in the Y chromosome of modern Japanese males. Anthropol Sci 122:131–136. https://doi.org/10.1537/ase.140709

Article  Google Scholar 

Vogt PH (2004) Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Mol Cell Endocrinol 224:1–9. https://doi.org/10.1016/j.mce.2004.06.008

Article  PubMed  CAS  Google Scholar 

Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn FM, Schill WB, Farah S, Ramos C et al (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933–943. https://doi.org/10.1093/hmg/5.7.933

Article  PubMed  CAS  Google Scholar 

Y Chromosome Consortium (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 12:339–348. https://doi.org/10.1101/gr.217602

Article  CAS  Google Scholar 

Yang B, Ma YY, Liu YQ, Li L, Yang D, Tu WL, Shen Y, Dong Q, Yang Y (2015) Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination. Sci Rep 5:10551. https://doi.org/10.1038/srep10551

Article  PubMed  PubMed Central  Google Scholar 

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