1932

Abstract

Mammals have the oldest sex chromosome system known: the mammalian X and Y chromosomes evolved from ordinary autosomes beginning at least 180 million years ago. Despite their shared ancestry, mammalian Y chromosomes display enormous variation among species in size, gene content, and structural complexity. Several unique features of the Y chromosome—its lack of a homologous partner for crossing over, its functional specialization for spermatogenesis, and its high degree of sequence amplification—contribute to this extreme variation. However, amid this evolutionary turmoil many commonalities have been revealed that have contributed to our understanding of the selective pressures driving the evolution and biology of the Y chromosome. Two biological themes have defined Y-chromosome research over the past six decades: testis determination and spermatogenesis. A third biological theme begins to emerge from recent insights into the Y chromosome's roles beyond the reproductive tract—a theme that promises to broaden the reach of Y-chromosome research by shedding light on fundamental sex differences in human health and disease.

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2015-11-23
2024-04-16
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Literature Cited

  1. Aitken RJ, Marshall Graves JA. 1.  2002. Human spermatozoa: the future of sex. Nature 415:963 [Google Scholar]
  2. Alvesalo L, Portin P. 2.  1980. 47,XXY males: sex chromosomes and tooth size. Am. J. Hum. Genet. 32:955–59 [Google Scholar]
  3. Alvesalo L, Varrela J. 3.  1980. Permanent tooth sizes in 46,XY females. Am. J. Hum. Genet. 32:736–42 [Google Scholar]
  4. Bellott DW, Hughes JF, Skaletsky H, Brown LG, Pyntikova T. 4.  et al. 2014. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature 508:494–99 [Google Scholar]
  5. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN. 5.  1990. Genetic evidence equating SRY and the testis-determining factor. Nature 348:448–50 [Google Scholar]
  6. Blagowidow N, Page DC, Huff D, Mennuti MT. 6.  1989. Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome. Am. J. Med. Genet. 34:159–62 [Google Scholar]
  7. Brown WM. 7.  1968. Males with an XYY sex chromosome complement. J. Med. Genet. 5:341–59 [Google Scholar]
  8. Burgoyne PS. 8.  1998. The role of Y-encoded genes in mammalian spermatogenesis. Semin. Cell Dev. Biol. 9:423–32 [Google Scholar]
  9. Cannon-Albright LA, Farnham JM, Bailey M, Albright FS, Teerlink CC. 9.  et al. 2014. Identification of specific Y chromosomes associated with increased prostate cancer risk. Prostate 74:991–98 [Google Scholar]
  10. Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC. 10.  et al. 1989. Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe. Hum. Genet. 83:88–92 [Google Scholar]
  11. Carrel L, Willard HF. 11.  2005. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400–4 [Google Scholar]
  12. Cattanach BM, Pollard CE, Hawker SG. 12.  1971. Sex-reversed mice: XX and XO males. Cytogenetics 10:318–37 [Google Scholar]
  13. Chan AW. 13.  2013. Progress and prospects for genetic modification of nonhuman primate models in biomedical research. ILAR J. 54:211–23 [Google Scholar]
  14. Charchar FJ, Bloomer LD, Barnes TA, Cowley MJ, Nelson CP. 14.  et al. 2012. Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome. Lancet 379:915–22 [Google Scholar]
  15. Charlesworth B, Charlesworth D. 15.  2000. The degeneration of Y chromosomes. Philos. Trans. R. Soc. Lond. B 355:1563–72 [Google Scholar]
  16. Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A. 16.  et al. 1992. Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359:380–87 [Google Scholar]
  17. Cockwell A, MacKenzie M, Youings S, Jacobs P. 17.  1991. A cytogenetic and molecular study of a series of 45,X fetuses and their parents. J. Med. Genet. 28:151–55 [Google Scholar]
  18. Cocquet J, Ellis PJ, Mahadevaiah SK, Affara NA, Vaiman D, Burgoyne PS. 18.  2012. A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. PLOS Genet. 8:e1002900 [Google Scholar]
  19. Cocquet J, Ellis PJ, Yamauchi Y, Mahadevaiah SK, Affara NA. 19.  et al. 2009. The multicopy gene Sly represses the sex chromosomes in the male mouse germline after meiosis. PLOS Biol. 7:e1000244 [Google Scholar]
  20. Conway SJ, Mahadevaiah SK, Darling SM, Capel B, Rattigan AM, Burgoyne PS. 20.  1994. Y353/B: a candidate multiple-copy spermiogenesis gene on the mouse Y chromosome. Mamm. Genome 5:203–10 [Google Scholar]
  21. Dang VT, Kassahn KS, Marcos AE, Ragan MA. 21.  2008. Identification of human haploinsufficient genes and their genomic proximity to segmental duplications. Eur. J. Hum. Genet. 16:1350–57 [Google Scholar]
  22. de la Chapelle A. 22.  1972. Analytic review: nature and origin of males with XX sex chromosomes. Am. J. Hum. Genet. 24:71–105 [Google Scholar]
  23. de la Chapelle A, Tippett PA, Wetterstrand G, Page D. 23.  1984. Genetic evidence of X-Y interchange in a human XX male. Nature 307:170–71 [Google Scholar]
  24. Dever TE, Wei CL, Benkowski LA, Browning K, Merrick WC, Hershey JW. 24.  1994. Determination of the amino acid sequence of rabbit, human, and wheat germ protein synthesis factor eIF-4C by cloning and chemical sequencing. J. Biol. Chem. 269:3212–18 [Google Scholar]
  25. Disteche CM. 25.  2012. Dosage compensation of the sex chromosomes. Annu. Rev. Genet. 46:537–60 [Google Scholar]
  26. Disteche CM, Casanova M, Saal H, Friedman C, Sybert V. 26.  et al. 1986. Small deletions of the short arm of the Y chromosome in 46,XY females. PNAS 83:7841–44 [Google Scholar]
  27. Disteche CM, Filippova GN, Tsuchiya KD. 27.  2002. Escape from X inactivation. Cytogenet. Genome Res. 99:36–43 [Google Scholar]
  28. Dumanski JP, Rasi C, Lonn M, Davies H, Ingelsson M. 28.  et al. 2015. Mutagenesis. Smoking is associated with mosaic loss of chromosome Y. Science 347:81–83 [Google Scholar]
  29. Ferguson-Smith MA. 29.  1965. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2:142–55 [Google Scholar]
  30. Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA. 30.  et al. 1990. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell 63:1205–18 [Google Scholar]
  31. Foote S, Vollrath D, Hilton A, Page DC. 31.  1992. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 258:60–66 [Google Scholar]
  32. Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. 32.  1959. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1:711–13 [Google Scholar]
  33. Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S. 33.  et al. 2014. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat. Genet. 46:624–28 [Google Scholar]
  34. Galan-Caridad JM, Harel S, Arenzana TL, Hou ZE, Doetsch FK. 34.  et al. 2007. Zfx controls the self-renewal of embryonic and hematopoietic stem cells. Cell 129:345–57 [Google Scholar]
  35. Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A. 35.  et al. 2014. Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men. Gene 548:251–55 [Google Scholar]
  36. Giachini C, Nuti F, Turner DJ, Laface I, Xue Y. 36.  et al. 2009. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J. Clin. Endocrinol. Metab. 94:4016–22 [Google Scholar]
  37. Girardi SK, Mielnik A, Schlegel PN. 37.  1997. Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod. 12:1635–41 [Google Scholar]
  38. Graves JA. 38.  2004. The degenerate Y chromosome: Can conversion save it?. Reprod. Fertil. Dev. 16:527–34 [Google Scholar]
  39. Graves JA. 39.  2006. Sex chromosome specialization and degeneration in mammals. Cell 124:901–14 [Google Scholar]
  40. Gravholt CH. 40.  2004. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur. J. Endocrinol. 151:657–87 [Google Scholar]
  41. Gropman A, Samango-Sprouse CA. 41.  2013. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am. J. Med. Genet. C Semin. Med. Genet. 163C:35–43 [Google Scholar]
  42. Gubbay J, Collignon J, Koopman P, Capel B, Economou A. 42.  et al. 1990. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245–50 [Google Scholar]
  43. Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G. 43.  et al. 1984. Human XX males with Y single-copy DNA fragments. Nature 307:172–73 [Google Scholar]
  44. Hassold T, Benham F, Leppert M. 44.  1988. Cytogenetic and molecular analysis of sex-chromosome monosomy. Am. J. Hum. Genet. 42:534–41 [Google Scholar]
  45. Hook EB, Warburton D. 45.  1983. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum. Genet. 64:24–27 [Google Scholar]
  46. Hook EB, Warburton D. 46.  2014. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum. Genet. 133:417–24 [Google Scholar]
  47. Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J. 47.  2012. Androgen insensitivity syndrome. Lancet 380:1419–28 [Google Scholar]
  48. Hughes JF, Rozen S. 48.  2012. Genomics and genetics of human and primate Y chromosomes. Annu. Rev. Genomics Hum. Genet. 13:83–108 [Google Scholar]
  49. Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T. 49.  et al. 2012. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature 483:82–86 [Google Scholar]
  50. Hughes JF, Skaletsky H, Pyntikova T, Graves TA, van Daalen SK. 50.  et al. 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature 463:536–39 [Google Scholar]
  51. Hughes JF, Skaletsky H, Pyntikova T, Minx PJ, Graves T. 51.  et al. 2005. Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee. Nature 437:100–3 [Google Scholar]
  52. Jacobs P, Dalton P, James R, Mosse K, Power M. 52.  et al. 1997. Turner syndrome: a cytogenetic and molecular study. Ann. Hum. Genet. 61:471–83 [Google Scholar]
  53. Jacobs PA, Strong JA. 53.  1959. A case of human intersexuality having a possible XXY sex determining mechanism. Nature 183:302–3 [Google Scholar]
  54. Jäger RJ, Anvret M, Hall K, Scherer G. 54.  1990. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348:452–54 [Google Scholar]
  55. Jegalian K, Page DC. 55.  1998. A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated. Nature 394:776–80 [Google Scholar]
  56. Jones MH, Khwaja OS, Briggs H, Lambson B, Davey PM. 56.  et al. 1994. A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin. Genomics 24:266–75 [Google Scholar]
  57. Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K. 57.  et al. 1994. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum. Mol. Genet. 3:1965–67 [Google Scholar]
  58. Koopman P, Gubbay J, Collignon J, Lovell-Badge R. 58.  1989. Zfy gene expression patterns are not compatible with a primary role in mouse sex determination. Nature 342:940–42 [Google Scholar]
  59. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. 59.  1991. Male development of chromosomally female mice transgenic for SRY. Nature 351:117–21 [Google Scholar]
  60. Koopman P, Münsterberg A, Capel B, Vivian N, Lovell-Badge R. 60.  1990. Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348:450–52 [Google Scholar]
  61. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS. 61.  et al. 2001. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29:279–86 [Google Scholar]
  62. Lahn BT, Page DC. 62.  2000. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Hum. Mol. Genet. 9:311–19 [Google Scholar]
  63. Lahn BT, Page DC. 63.  1999. Four evolutionary strata on the human X chromosome. Science 286:964–67 [Google Scholar]
  64. Lahn BT, Page DC. 64.  1997. Functional coherence of the human Y chromosome. Science 278:675–80 [Google Scholar]
  65. Lan F, Bayliss PE, Rinn JL, Whetstine JR, Wang JK. 65.  et al. 2007. A histone H3 lysine 27 demethylase regulates animal posterior development. Nature 449:689–94 [Google Scholar]
  66. Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM. 66.  et al. 2009. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 138:855–69 [Google Scholar]
  67. Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. 67.  2008. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur. J. Hum. Genet. 16:614–18 [Google Scholar]
  68. Lee CS, Dias AP, Jedrychowski M, Patel AH, Hsu JL, Reed R. 68.  2008. Human DDX3 functions in translation and interacts with the translation initiation factor eIF3. Nucleic Acids Res. 36:4708–18 [Google Scholar]
  69. Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD. 69.  et al. 2012. Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders. J. Child Psychol. Psychiatry 53:1072–81 [Google Scholar]
  70. Lee S, Lee JW, Lee SK. 70.  2012. UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program. Dev. Cell 22:25–37 [Google Scholar]
  71. Levilliers J, Quack B, Weissenbach J, Petit C. 71.  1989. Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. PNAS 86:2296–300 [Google Scholar]
  72. Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I. 72.  et al. 2013. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum. Genet. 132:537–52 [Google Scholar]
  73. Lleo A, Oertelt-Prigione S, Bianchi I, Caliari L, Finelli P. 73.  et al. 2013. Y chromosome loss in male patients with primary biliary cirrhosis. J. Autoimmun. 41:87–91 [Google Scholar]
  74. Lu C, Jiang J, Zhang R, Wang Y, Xu M. 74.  et al. 2014. Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment. Mol. Hum. Reprod. 20:836–43 [Google Scholar]
  75. Lu C, Wang Y, Zhang F, Lu F, Xu M. 75.  et al. 2013. DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations. Hum. Reprod. 28:2440–49 [Google Scholar]
  76. Magenis RE, Tochen ML, Holahan KP, Carey T, Allen L, Brown MG. 76.  1984. Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. J. Pediatr. 105:916–19 [Google Scholar]
  77. Mazeyrat S, Saut N, Grigoriev V, Mahadevaiah SK, Ojarikre OA. 77.  et al. 2001. A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis. Nat. Genet. 29:49–53 [Google Scholar]
  78. Mazeyrat S, Saut N, Sargent CA, Grimmond S, Longepied G. 78.  et al. 1998. The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region. Hum. Mol. Genet. 7:1713–24 [Google Scholar]
  79. McLaren A, Simpson E, Epplen JT, Studer R, Koopman P. 79.  et al. 1988. Location of the genes controlling H-Y antigen expression and testis determination on the mouse Y chromosome. PNAS 85:6442–45 [Google Scholar]
  80. Mittwoch U. 80.  1992. Sex determination and sex reversal: genotype, phenotype, dogma, and semantics. Hum. Genet. 89:467–79 [Google Scholar]
  81. Mueller JL, Mahadevaiah SK, Park PJ, Warburton PE, Page DC, Turner JM. 81.  2008. The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression. Nat. Genet. 40:794–99 [Google Scholar]
  82. Muller HJ. 82.  1964. The relation of recombination to mutational advance. Mutat. Res. 106:2–9 [Google Scholar]
  83. Nakahori Y, Kuroki Y, Komaki R, Kondoh N, Namiki M. 83.  et al. 1996. The Y chromosome region essential for spermatogenesis. Horm. Res. 46:Suppl. 120–23 [Google Scholar]
  84. Noordam MJ, Westerveld GH, Hovingh SE, van Daalen SK, Korver CM. 84.  et al. 2011. Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. Hum. Mol. Genet. 20:2457–63 [Google Scholar]
  85. Ohno S. 85.  1967. Sex Chromosomes and Sex-Linked Genes Berlin: Springer-Verlag
  86. Page DC. 86.  1988. Is ZFY the sex-determining gene on the human Y chromosome?. Philos. Trans. R. Soc. B 322:155–57 [Google Scholar]
  87. Page DC, Mosher R, Simpson EM, Fisher EM, Mardon G. 87.  et al. 1987. The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51:1091–104 [Google Scholar]
  88. Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN. 88.  et al. 1989. Genetic evidence that ZFY is not the testis-determining factor. Nature 342:937–39 [Google Scholar]
  89. Pearks Wilkerson AJ, Raudsepp T, Graves T, Albracht D, Warren W. 89.  et al. 2008. Gene discovery and comparative analysis of X-degenerate genes from the domestic cat Y chromosome. Genomics 92:329–38 [Google Scholar]
  90. Quinn A, Koopman P. 90.  2012. The molecular genetics of sex determination and sex reversal in mammals. Semin. Reprod. Med. 30:351–63 [Google Scholar]
  91. Qureshi SJ, Ross AR, Ma K, Cooke HJ, Intyre MA. 91.  et al. 1996. Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol. Hum. Reprod. 2:775–79 [Google Scholar]
  92. Rao E, Weiss B, Fukami M, Rump A, Niesler B. 92.  et al. 1997. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 16:54–63 [Google Scholar]
  93. Reijo R, Alagappan RK, Patrizio P, Page DC. 93.  1996. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 347:1290–93 [Google Scholar]
  94. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG. 94.  et al. 1995. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet. 10:383–93 [Google Scholar]
  95. Repping S, Skaletsky H, Brown L, van Daalen SKM, Korver CM. 95.  et al. 2003. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat. Genet. 35:247–51 [Google Scholar]
  96. Repping S, Skaletsky H, Lange J, Silber S, van der Veen F. 96.  et al. 2002. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71:906–22 [Google Scholar]
  97. Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD. 97.  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 83:1046–52 [Google Scholar]
  98. Reynard LN, Turner JM, Cocquet J, Mahadevaiah SK, Toure A. 98.  et al. 2007. Expression analysis of the mouse multi-copy X-linked gene Xlr-related, meiosis-regulated (Xmr), reveals that Xmr encodes a spermatid-expressed cytoplasmic protein, SLX/XMR. Biol. Reprod. 77:329–35 [Google Scholar]
  99. Rice WR. 99.  1996. Evolution of the Y sex chromosome in animals. BioScience 46:331–43 [Google Scholar]
  100. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K. 100.  et al. 2005. The DNA sequence of the human X chromosome. Nature 434:325–37 [Google Scholar]
  101. Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG. 101.  et al. 2012. AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. Am. J. Hum. Genet. 91:890–96 [Google Scholar]
  102. Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S. 102.  et al. 2010. Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Eur. J. Hum. Genet. 18:330–35 [Google Scholar]
  103. Sekiguchi T, Iida H, Fukumura J, Nishimoto T. 103.  2004. Human DDX3Y, the Y-encoded isoform of RNA helicase DDX3, rescues a hamster temperature-sensitive ET24 mutant cell line with a DDX3X mutation. Exp. Cell Res. 300:213–22 [Google Scholar]
  104. Shpargel KB, Sengoku T, Yokoyama S, Magnuson T. 104.  2012. UTX and UTY demonstrate histone demethylase–independent function in mouse embryonic development. PLOS Genet. 8:e1002964 [Google Scholar]
  105. Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K. 105.  et al. 1997. Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil. Steril. 67:542–47 [Google Scholar]
  106. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL. 106.  et al. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–44 [Google Scholar]
  107. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L. 107.  et al. 2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–37 [Google Scholar]
  108. Soh YQS, Alfoldi J, Pyntikova T, Brown LG, Graves T. 108.  et al. 2014. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes. Cell 159:800–13 [Google Scholar]
  109. Stern C. 109.  1957. The problem of complete Y-linkage in men. Am. J. Hum. Genet. 9:147–66 [Google Scholar]
  110. Stuppia L, Mastroprimiano G, Calabrese G, Peila R, Tenaglia R, Palka G. 110.  1996. Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet. Cell Genet. 72:155–58 [Google Scholar]
  111. Styrna J, Imai HT, Moriwaki K. 111.  1991. An increased level of sperm abnormalities in mice with a partial deletion of the Y chromosome. Genet. Res. 57:195–99 [Google Scholar]
  112. Styrna J, Klag J, Moriwaki K. 112.  1991. Influence of partial deletion of the Y chromosome on mouse sperm phenotype. J. Reprod. Fertil. 92:187–95 [Google Scholar]
  113. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E. 113.  et al. 2000. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum. Mol. Genet. 9:2291–96 [Google Scholar]
  114. Sutcliffe MJ, Burgoyne P. 114.  1989. Analysis of the testes of H-Y negative XOSxrb mice suggests that the spermatogenesis gene (Spy) acts during the differentiation of the A spermatogonia. Development 107:373–80 [Google Scholar]
  115. Tahiliani M, Mei P, Fang R, Leonor T, Rutenberg M. 115.  et al. 2007. The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. Nature 447:601–5 [Google Scholar]
  116. Tiepolo L, Zuffardi O. 116.  1976. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the Y chromosome long arm. Hum. Genet. 34:119–24 [Google Scholar]
  117. Toure A, Szot M, Mahadevaiah SK, Rattigan A, Ojarikre OA, Burgoyne PS. 117.  2004. A new deletion of the mouse Y chromosome long arm associated with the loss of Ssty expression, abnormal sperm development and sterility. Genetics 166:901–12 [Google Scholar]
  118. Varrela J, Alvesalo L, Vinkka H. 118.  1984. Body size and shape in 46,XY females with complete testicular feminization. Ann. Hum. Biol. 11:291–301 [Google Scholar]
  119. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P. 119.  et al. 1996. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5:933–43 [Google Scholar]
  120. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P. 120.  et al. 1992. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258:52–59 [Google Scholar]
  121. Wang H, Hu YC, Markoulaki S, Welstead GG, Cheng AW. 121.  et al. 2013. TALEN-mediated editing of the mouse Y chromosome. Nat. Biotechnol. 31:530–32 [Google Scholar]
  122. Wang I, Weil D, Levilliers J, Affara NA, de la Chapelle A, Petit C. 122.  1995. Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness. Genomics 28:52–58 [Google Scholar]
  123. Wang Q, Xue Y, Zhang Y, Long Q, Asan. 123.  et al. 2013. Genetic basis of Y-linked hearing impairment. Am. J. Hum. Genet. 92:301–6 [Google Scholar]
  124. Wang QJ, Lu CY, Li N, Rao SQ, Shi YB. 124.  et al. 2004. Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family. J. Med. Genet. 41:e80 [Google Scholar]
  125. Ward MA, Burgoyne PS. 125.  2006. The effects of deletions of the mouse Y chromosome long arm on sperm function–intracytoplasmic sperm injection (ICSI)-based analysis. Biol. Reprod. 74:652–58 [Google Scholar]
  126. Watanabe M, Zinn AR, Page DC, Nishimoto T. 126.  1993. Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat. Genet. 4:268–71 [Google Scholar]
  127. Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C. 127.  1994. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat. Genet. 7:414–19 [Google Scholar]
  128. Welstead GG, Creyghton MP, Bilodeau S, Cheng AW, Markoulaki S. 128.  et al. 2012. X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner. PNAS 109:13004–9 [Google Scholar]
  129. Wizemann TM, Pardue ML. 129.  2001. Exploring the Biological Contributions to Human Health: Does Sex Matter? Washington, D.C: Natl. Acad. Press288
  130. Yamauchi Y, Riel JM, Stoytcheva Z, Ward MA. 130.  2014. Two Y genes can replace the entire Y chromosome for assisted reproduction in the mouse. Science 343:69–72 [Google Scholar]
  131. Yen PH. 131.  1998. A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics 54:5–12 [Google Scholar]
  132. Yen PH, Tsai SP, Wenger SL, Steele MW, Mohandas TK, Shapiro LJ. 132.  1991. X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. PNAS 88:8944–48 [Google Scholar]
  133. Zhou Z, Licklider LJ, Gygi SP, Reed R. 133.  2002. Comprehensive proteomic analysis of the human spliceosome. Nature 419:182–85 [Google Scholar]
  134. Zinn AR, Page DC, Fisher EM. 134.  1993. Turner syndrome: the case of the missing sex chromosome. Trends Genet. 9:90–93 [Google Scholar]
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