Genomics and genetics of human and primate y chromosomes

Annual Review of Genomics and Human Genetics

Volumn 13, Issue , 2012, Pages 83-108

  Hughes, Jennifer F ^a   Rozen, Steve ^b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b DUKE NUS MEDICAL SCHOOL   (Singapore)

Author keywords

ampliconic; clonal transmission; evolution; MSY; spermatogenesis; X degenerate

Indexed keywords

AMPLICON; CHIMPANZEE; CHROMOSOME STRUCTURE; EVOLUTIONARY DEVELOPMENTAL BIOLOGY; GENE AMPLIFICATION; GENE DUPLICATION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENEALOGY; GENOMICS; HUMAN; HUMAN GENETICS; MOLECULAR DYNAMICS; NONHUMAN; PRIMATE; REPRODUCTION; REVIEW; RHESUS MONKEY; SEX DETERMINATION; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS; SRY GENE; Y CHROMOSOME;

ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, Y; EVOLUTION, MOLECULAR; GENES, SRY; HETEROCHROMATIN; HUMANS; INFERTILITY, MALE; MALE; MODELS, GENETIC; MUTATION; SEQUENCE ANALYSIS, DNA; SPERMATOGENESIS;

MACACA MULATTA; MAMMALIA; PAN; PRIMATES;

EID: 84868475835     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-090711-163855     Document Type: Review

References (151)

1. Aitken RJ, Graves JAM. 2002. The future of sex. Nature 415:963 (Pubitemid 34193426)
2. Alkan C, Sajjadian S, Eichler EE. 2011. Limitations of next-generation genome sequence assembly. Nat. Methods 8:61-65
3. Andersson M, Page DC, de la Chapelle A. 1986. Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science 233:786-88 (Pubitemid 16016234)
4. Bachtrog D. 2008. The temporal dynamics of processes underlying Y chromosome degeneration. Genetics 179:1513-25
5. Bachtrog D, Charlesworth B. 2002. Reduced adaptation of a non-recombining neo-Y chromosome. Nature 416:323-26 (Pubitemid 34260246)
6. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. 2001. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 11:1005-17 (Pubitemid 32834546)
7. Balaresque P, Bowden GR, Parkin EJ, Omran GA, Heyer E, et al. 2008. Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis. Hum. Mutat. 29:1171-80
8. Bellott DW, Skaletsky H, Pyntikova T, Mardis ER, Graves T, et al. 2010. Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition. Nature 466:612-16
9. Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM III, et al. 1991. Clinical and pathologic spectrum of 46, XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine 70:375-83
10. Bhowmick BK, Satta Y, Takahata N. 2007. The origin and evolution of human ampliconic gene families and ampliconic structure. Genome Res. 17:441-50 (Pubitemid 46556448)
11. Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N, Hurles ME. 2000. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J. Med. Genet. 37:752-58
12. Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, et al. 1998. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum. Reprod. 13:2812-15 (Pubitemid 28482732)
13. Bull JJ. 1983. Evolution of Sex Determining Mechanisms. Menlo Park, CA: Benjamin/Cummings
14. Burgoyne PS. 1998. The role of Y-encoded genes in mammalian spermatogenesis. Semin. Cell Dev. Biol. 9:423-32 (Pubitemid 128350669)
15. Burgoyne PS, Mahadevaiah SK, Sutcliffe MJ, Palmer SJ. 1992. Fertility in mice requires X-Y pairing and a Y-chromosomal "spermiogenesis" gene mapping to the long arm. Cell 71:391-98
16. Calogero AE, Garofalo MR, Barone N, Longo GA, De Palma A, et al. 2002. Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene. J. Endocrinol. Investig. 25:631-34 (Pubitemid 34784744)
17. Cameron FJ, Sinclair AH. 1997. Mutations in SRY and SOX9: testis-determining genes. Hum. Mutat. 9:388-95 (Pubitemid 27194890)
18. Carvalho CM, Fujisawa M, Shirakawa T, Gotoh A, Kamidono S, et al. 2003. Lack of association between Y chromosome haplogroups and male infertility in Japanese men. Am. J. Med. Genet. A 116:152-58 (Pubitemid 36043386)
19. Chang PL, Sauer MV, Brown S. 1999. Y chromosome microdeletion in a father and his four infertile sons. Hum. Reprod. 14:2689-94 (Pubitemid 29520673)
20. Charlesworth B. 1996. The evolution of chromosomal sex determination and dosage compensation. Curr. Biol. 6:149-62
21. Charlesworth B, Charlesworth D. 2000. The degeneration of Y chromosomes. Philos. Trans. R. Soc. Lond. B 355:1563-72
22. Conway SJ, Mahadevaiah SK, Darling SM, Capel B, Rattigan AM, Burgoyne PS. 1994. Y353/B: a candidate multiple-copy spermiogenesis gene on the mouse Y chromosome. Mamm. Genome 5:203-10 (Pubitemid 2082220)
23. CookeHJ, LeeM, Kerr S, RuggiuM. 1996. Amurine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum. Mol. Genet. 5:513-16 (Pubitemid 26101147)
24. Das PJ, Chowdhary BP, Raudsepp T. 2009. Characterization of the bovine pseudoautosomal region and comparison with sheep, goat, and other mammalian pseudoautosomal regions. Cytogenet. Genome Res. 126:139-47
25. de la Chapelle A, Tippett PA, Wetterstrand G, Page D. 1984. Genetic evidence of X-Y interchange in a human XX male. Nature 307:170-71 (Pubitemid 14132904)
26. Delbridge ML, Lingenfelter PA, Disteche CM, Graves JAM. 1999. The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. Nat. Genet. 22:223-24 (Pubitemid 29297245)
27. Delbridge ML, Longepied G, Depetris D, Mattei MG, Disteche CM, et al. 2004. TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X-implications for Y chromosome evolution. Chromosome Res. 12:345-56 (Pubitemid 38932375)
28. Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, et al. 1986. Small deletions of the short arm of the Y chromosome in 46, XY females. Proc. Natl. Acad. Sci. USA 83:7841-44 (Pubitemid 17183938)
29. Ditton HJ, Zimmer J, Kamp C, Rajpert-De Meyts E, Vogt PH. 2004. The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. Hum. Mol. Genet. 13:2333-41 (Pubitemid 39359930)
30. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, et al. 2007. Molecular and clinical characterization of Y chromosomemicrodeletions in infertile men: a 10-year experience in Italy. J. Clin. Endocrinol. Metab. 92:762-70 (Pubitemid 46465638)
31. Filatov DA, Moneger F, Negrutiu I, Charlesworth D. 2000. Low variability in a Y-linked plant gene and its implications for Y-chromosome evolution. Nature 404:388-90 (Pubitemid 30164339)
32. Ford CE, Miller OJ, Polani PE, de Almeida JC, Briggs JH. 1959. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1:711-13
33. Foster EA, Jobling MA, Taylor PG, Donnelly P, de Knijff P, et al. 1998. Jefferson fathered slave's last child. Nature 396:27-28 (Pubitemid 28520437)
34. Fraser JA, Heitman J. 2005. Chromosomal sex-determining regions in animals, plants and fungi. Curr. Opin. Genet. Dev. 15:645-51 (Pubitemid 41532339)
35. Fullerton G, Hamilton M, Maheshwari A. 2010. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum. Reprod. 25:588-97
36. Gatta V, Stuppia L, Calabrese G, Morizio E, Guanciali-Franchi P, Palka G. 2002. A new case of Yq microdeletion transmitted from a normal father to two infertile sons. J. Med. Genet. 39:E27
37. Giachini C, Nuti F, Turner DJ, Laface I, Xue Y, et al. 2009. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J. Clin. Endocrinol. Metab. 94:4016-22
38. Girardi SK, Mielnik A, Schlegel PN. 1997. Submicroscopic deletions in the Y chromosome of infertile men. Hum. Reprod. 12:1635-41 (Pubitemid 27406070)
39. Goodfellow PN, Lovell-Badge R. 1993. SRY and sex determination in mammals. Annu. Rev. Genet. 27:71-92 (Pubitemid 24011348)
40. Graves JAM. 2008. Weird animal genomes and the evolution of vertebrate sex and sex chromosomes. Annu. Rev. Genet. 42:565-86
41. Graves JAM, Koina E, Sankovic N. 2006. How the gene content of human sex chromosomes evolved. Curr. Opin. Genet. Dev. 16:219-24
42. Gravholt CH, Fedder J, Naeraa RW, Muller J. 2000. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J. Clin. Endocrinol. Metab. 85:3199-202
43. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, et al. 1990. A gene mapping to the sexdetermining region of the mouseYchromosome is amember of a novel family of embryonically expressed genes. Nature 346:245-50
44. Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, et al. 1984. Human XX males with Y single-copy DNA fragments. Nature 307:172-73 (Pubitemid 14132905)
45. Hamilton CK, Favetta LA, Di Meo GP, Floriot S, Perucatti A, et al. 2009. Copy number variation of testis-specific protein, Y-encoded (TSPY ) in 14 different breeds of cattle (Bos taurus). Sex. Dev. 3:205-13
46. Hamilton CK, Revay T, Domander R, Favetta LA, KingWA. 2011. A large expansion of the HSFY gene family in cattle shows dispersion across Yq and testis-specific expression. PLoS ONE 6:e17790
47. Hammer MF, Karafet T, Rasanayagam A, Wood ET, Altheide TK, et al. 1998. Out of Africa and back again: nested cladistic analysis of human Y chromosome variation. Mol. Biol. Evol. 15:427-41 (Pubitemid 28153153)
48. Haussler D, O'Brien SJ, Ryder OA, Barker FK, ClampM, Crawford AJ. 2009. Genome 10K: a proposal to obtain whole-genome sequence for 10, 000 vertebrate species. J. Hered. 100:659-74
49. Hjerrild BE, Mortensen KH, Gravholt CH. 2008. Turner syndrome and clinical treatment. Br. Med. Bull. 86:77-93 (Pubitemid 351809632)
50. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. 2003. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum. Reprod. 18:1660-65 (Pubitemid 36958046)
51. Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T, et al. 2012. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature 483:82-86
52. Hughes JF, Skaletsky H, Pyntikova T, Graves TA, van Daalen SK, et al. 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature 463:536-39
53. Hughes JF, Skaletsky H, Pyntikova T, Minx PJ, Graves T, et al. 2005. Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee. Nature 437:100-3
54. Hurles ME, Sykes BC, JoblingMA, Forster P. 2005. The dual origin of the Malagasy in Island Southeast Asia and East Africa: evidence from maternal and paternal lineages. Am. J. Hum. Genet. 76:894-901 (Pubitemid 40563111)
55. Ivanov R, Aarts T, Hol S, Doornenbal A, Hagenbeek A, et al. 2005. Identification of a 40S ribosomal protein S4-derived H-Y epitope able to elicit a lymphoblast-specific cytotoxic T lymphocyte response. Clin. Cancer Res. 11:1694-703 (Pubitemid 40471830)
56. Jacobs P, Dalton P, James R, Mosse K, Power M, et al. 1997. Turner syndrome: a cytogenetic and molecular study. Ann. Hum. Genet. 61:471-83 (Pubitemid 28134889)
57. Jacobs PA, Strong JA. 1959. A case of human intersexuality having a possible XXY sex determining mechanism. Nature 183:302-3
58. Jiang MC, Lien YR, Chen SU, Ko TM, Ho HN, Yang YS. 1999. Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection. Fertil. Steril. 71:1029-32
59. Jobling M, Tyler-Smith C. 2003. The human Y chromosome: an evolutionary marker comes of age. Nat. Rev. Genet. 4:598-612 (Pubitemid 36917502)
60. Kamischke A, Gromoll J, Simoni M, Behre HM, Nieschlag E. 1999. Transmission of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDY1) genes from father to son through intracytoplasmic sperm injection: case report. Hum. Reprod. 14:2320-22 (Pubitemid 29425421)
61. Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. 2000. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum. Mol. Genet. 9:2563-72
62. 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. 18:830-38 (Pubitemid 351645073)
63. Keyser C, Bouakaze C, Crubezy E, Nikolaev VG, Montagnon D, et al. 2009. Ancient DNA provides new insights into the history of south Siberian Kurgan people. Hum. Genet. 126:395-410
64. Krausz C, Degl'Innocenti S, Nuti F, Morelli A, Felici F, et al. 2006. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum. Mol. Genet. 15:2673-81 (Pubitemid 44400394)
65. Krausz C, Quintana-Murci L, McElreavey K. 2000. Prognostic value of Y deletion analysis: What is the clinical prognostic value of Y chromosome microdeletion analysis? Hum. Reprod. 15:1431-34
66. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, 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 (Pubitemid 33096452)
67. Kuroki Y, IwamotoT, Lee J, YoshiikeM, Nozawa S, et al. 1999. Spermatogenic ability is different among males in different Y chromosome lineage. J. Hum. Genet. 44:289-92 (Pubitemid 29436694)
68. Lahn B, Page D. 2000. A human sex-chromosomal gene family expressed inmale germ cells and encoding variably charged proteins. Hum. Mol. Genet. 9:311-19 (Pubitemid 30052755)
69. Lahn BT, Page DC. 1997. Functional coherence of the human Y chromosome. Science 278:675-80 (Pubitemid 27464964)
70. Lahn BT, Page DC. 1999. Four evolutionary strata on the human X chromosome. Science 286:964-67
71. Lahn BT, Page DC. 1999. Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nat. Genet. 21:429-33 (Pubitemid 29159583)
72. Lange J, Skaletsky H, van Daalen SK, Embry SL, Korver CM, et al. 2009. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 138:855-69
73. Lee AC, Kamalam A, Adams SM, JoblingMA. 2004. Molecular evidence for absence of Y-linkage of the Hairy Ears trait. Eur. J. Hum. Genet. 12:1077-79 (Pubitemid 39600137)
74. Lemaitre C, BragaMD, Gautier C, Sagot MF, Tannier E, Marais GA. 2009. Footprints of inversions at present and past pseudoautosomal boundaries in human sex chromosomes. Genome Biol. Evol. 1:56-66
75. Levilliers J, Quack B, Weissenbach J, Petit C. 1989. Exchange of terminal portions of X-and Ychromosomal short arms in human XY females. Proc. Natl. Acad. Sci. USA 86:2296-300 (Pubitemid 19102495)
76. Li R, Zhu H, Ruan J, Qian W, Fang X, et al. 2009. De novo assembly of human genomes with massively parallel short read sequencing. Genome Res. 20:265-72
77. Liu Z, Moore PH, Ma H, Ackerman CM, Ragiba M, et al. 2004. A primitive Y chromosome in papaya marks incipient sex chromosome evolution. Nature 427:348-52 (Pubitemid 38133661)
78. Longepied G, Saut N, Aknin-Seifer I, Levy R, Frances AM, et al. 2010.complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man. Hum. Reprod. 25:2655-63
79. Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, et al. 2009. Spermatogenesis in a man with complete deletion of USP9Y. N. Engl. J. Med. 360:881-85
80. Magenis RE, Tochen ML, Holahan KP, Carey T, Allen L, Brown MG. 1984. Turner syndrome resulting from partial deletion of Y chromosome short arm: localization ofmale determinants. J. Pediatr. 105:916-19 (Pubitemid 15185318)
81. Mangs HA, Morris BJ. 2007. The human pseudoautosomal region (PAR): origin, function and future. Curr. Genomics 8:129-36 (Pubitemid 46681778)
82. Mazeyrat S, Saut N, Mattei MG, Mitchell MJ. 1999. RBMY evolved on the Y chromosome from a ubiquitously transcribed X-Y identical gene. Nat. Genet. 22:224-26 (Pubitemid 29297246)
83. Mikkelsen TS, Wakefield MJ, Aken B, Amemiya CT, Chang JL, et al. 2007. Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences. Nature 447:167-77 (Pubitemid 46763085)
84. Mohandas TK, Speed RM, Passage MB, Yen PH, Chandley AC, Shapiro LJ. 1992. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am. J. Hum. Genet. 51:526-33
85. Muller HJ. 1914. A gene for the fourth chromosome of Drosophila. J. Exp. Zool. 17:325-36
86. Murphy WJ, Wilkerson AJ, Raudsepp T, Agarwala R, Schaffer AA, et al. 2006. Novel gene acquisition on carnivore Y chromosomes. PLoS Genet. 2:e43
87. Nathanson KL, Kanetsky PA, Hawes R, Vaughn DJ, Letrero R, et al. 2005. The Y deletion gr/gr and susceptibility to testicular germ cell tumor. Am. J. Hum. Genet. 77:1034-43 (Pubitemid 41698523)
88. Natl. Cent. Biotechnol. Inf. 2011. Genome sequencing projects statistics. http://www.ncbi. nlm. nih. gov/genomes/static/gpstat. html
89. Natl. Hum. Genome Res. Inst. 2011. Approved sequencing targets. http://www.genome. gov/10002154
90. Nicolas M, Marais G, Hykelova V, Janousek B, Laporte V, et al. 2005. Agradual process of recombination restriction in the evolutionary history of the sex chromosomes in dioecious plants. PLoS Biol. 3:e4
91. OatesRD, Silber S, BrownLG, Page DC. 2002. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum. Reprod. 17:2813-24 (Pubitemid 35350895)
92. Ohno S. 1967. Sex Chromosomes and Sex-Linked Genes. Berlin: Springer-Verlag
93. Ohno S, Becak W, Becak ML. 1964. X-autosome ratio and the behavior pattern of individual Xchromosomes in placental mammals. Chromosoma 15:14-30
94. Page DC, HarperME, Love J, BotsteinD. 1984. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311:119-23 (Pubitemid 14072199)
95. Painter TS. 1921. The Y-chromosome in mammals. Science 53:503-4
96. Paria N, Raudsepp T, Pearks Wilkerson AJ, O'Brien PC, Ferguson-Smith MA, et al. 2011. A gene catalogue of the euchromatic male-specific region of the horse Y chromosome: comparison with human and other mammals. PLoS ONE 6:e21374
97. Pearks Wilkerson AJ, Raudsepp T, Graves T, Albracht D, Warren W, et al. 2008. Gene discovery and comparative analysis of X-degenerate genes from the domestic cat Y chromosome. Genomics 92:329-38
98. Pierce RA, Field ED, den Haan JM, Caldwell JA, White FM, et al. 1999. Cutting edge: The HLAA0101-restricted HY minor histocompatibility antigen originates from DFFRY and contains a cysteinylated cysteine residue as identified by a novel mass spectrometric technique. J. Immunol. 163:6360-64
99. Reijo R, Alagappan RK, Patrizio P, Page DC. 1996. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 347:1290-93 (Pubitemid 26137792)
100. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, 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
101. Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, et al. 1996. Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 35:346-52 (Pubitemid 26250321)
102. Repping S, Skaletsky H, Brown L, van Daalen SKM, Korver CM, 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 (Pubitemid 37363178)
103. Repping S, Skaletsky H, Lange J, Silber S, van der Veen F, 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 (Pubitemid 135750521)
104. Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, et al. 2006. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat. Genet. 38:463-67
105. Rice WR. 1987. The accumulation of sexually antagonistic genes as a selective agent promoting the evolution of reduced recombination between primitive sex chromosomes. Evolution 41:911-14
106. Rice WR. 1996. Evolution of the Y sex chromosome in animals. BioScience 46:331-43 (Pubitemid 126561071)
107. Rosenfeld RG, Luzzatti L, Hintz RL, Miller OJ, Koo GC, Wachtel SS. 1979. Sexual and somatic determinants of the human Y chromosome: studies in a 46, XYp-phenotypic female. Am. J. Hum. Genet. 31:458-68 (Pubitemid 10199138)
108. Rosinski KV, Fujii N, Mito JK, Koo KK, Xuereb SM, et al. 2008. DDX3Y encodes a class I MHCrestricted H-Y antigen that is expressed in leukemic stem cells. Blood 111:4817-26
109. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, et al. 2005. The DNA sequence of the human X chromosome. Nature 434:325-37 (Pubitemid 40469169)
110. Rozen S, Marszalek JD, Alagappan RK, Skaletsky H, Page DC. 2009. Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection. Am. J. Hum. Genet. 85:923-28
111. Rozen S, Skaletsky H, Marszalek JD, Minx PJ, Cordum HS, et al. 2003. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 423:873-76 (Pubitemid 36781279)
112. Ruggiu M, Speed R, Taggart M, McKay SJ, Kilanowski F, et al. 1997. The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature 389:73-77 (Pubitemid 27387693)
113. Sandstedt SA, Tucker PK. 2004. Evolutionary strata on the mouse X chromosome correspond to strata on the human X chromosome. Genome Res. 14:267-72 (Pubitemid 38219839)
114. Saut N, Terriou P, Navarro A, Levy N, Mitchell MJ. 2000. The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol. Hum. Reprod. 6:789-93 (Pubitemid 30660610)
115. Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, et al. 1996. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat. Genet. 14:292-99
116. Scully RE. 1953. Gonadoblastoma; a gonadal tumor related to the dysgerminoma (seminoma) and capable of sex-hormone production. Cancer 6:455-63
117. Scully RE. 1970. Gonadoblastoma. A review of 74 cases. Cancer 25:1340-56
118. Shan Z, Hirschmann P, Seebacher T, Edelmann A, Jauch A, et al. 1996. A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad. Hum. Mol. Genet. 5:2005-11 (Pubitemid 26413646)
119. Shi W, Ayub Q, Vermeulen M, Shao RG, Zuniga S, et al. 2010. A worldwide survey of human male demographic history based on Y-SNP and Y-STR data from the HGDP-CEPH populations. Mol. Biol. Evol. 27:385-93
120. Simoni M, Tuttelmann F, Gromoll J, Nieschlag E. 2008. Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod. BioMed. Online 16:289-303 (Pubitemid 351291979)
121. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, 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
122. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, et al. 2003. The malespecific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-37 (Pubitemid 36781267)
123. Spierings E, Vermeulen CJ, Vogt MH, Doerner LE, Falkenburg JH, et al. 2003. Identification of HLA class II-restricted H-Y-specific T-helper epitope evoking CD4+ T-helper cells in H-Y-mismatched transplantation. Lancet 362:610-15 (Pubitemid 37013301)
124. Stern C. 1957. The problem of complete Y-linkage in men. Am. J. Hum. Genet. 9:147-66
125. Stouffs K, Lissens W, Tournaye H, Haentjens P. 2011. What about gr/gr deletions and male infertility? Systematic review and meta-analysis. Hum. Reprod. Update 17:197-209
126. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, et al. 1999. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat. Genet. 23:429-32
127. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, 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
128. Swyer GI. 1955. Male pseudohermaphroditism: a hitherto undescribed form. Br. Med. J. 2:709-12
129. Sykes B. 2004. Adam's Curse. New York: Norton. 320 pp.
130. Tang H, Siegmund DO, Shen P, Oefner PJ, FeldmanMW. 2002. Frequentist estimation of coalescence times from nucleotide sequence data using a tree-based partition. Genetics 161:447-159
131. Thomson R, Pritchard J, Shen P, Oefner P, Feldman M. 2001. Recent common ancestry of human Y chromosomes: evidence from DNA sequence data. Proc. Natl. Acad. Sci. USA 97:6927-29
132. Tiepolo L, Zuffardi O. 1976. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the Y chromosome long arm. Hum. Genet. 34:119-24
133. Tofanelli S, Bertoncini S, Castri L, Luiselli D, Calafell F, et al. 2009. On the origins and admixture of Malagasy: new evidence from high-resolution analyses of paternal and maternal lineages. Mol. Biol. Evol. 26:2109-24
134. TorikaiH, Akatsuka Y, MiyazakiM, Warren EHIII, ObaT, et al. 2004. A novel HLA-A?3303-restricted minor histocompatibility antigen encoded by an unconventional open reading frame of human TMSB4Y gene. J. Immunol. 173:7046-54 (Pubitemid 39541094)
135. Toure A, SzotM, Mahadevaiah SK, Rattigan A, Ojarikre OA, Burgoyne PS. 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 (Pubitemid 38396776)
136. Tsuchiya K, Reijo R, Page DC, Disteche CM. 1995. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am. J. Hum. Genet. 57:1400-7
137. Tuttelmann F, Meyts ERD, Nieschlag E, Simoni M. 2007. Gene polymorphisms and male infertility-a meta-analysis and literature review. Reprod. BioMed. Online 15:643-58 (Pubitemid 350285979)
138. Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, et al. 2002. Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45, X karyotype. Am. J. Med. Genet. 111:134-39 (Pubitemid 34809493)
139. Underhill PA, Shen P, Lin AA, Jin L, Passarino G, et al. 2000. Y chromosome sequence variation and the history of human populations. Nat. Genet. 26:358-61
140. Visser L, Westerveld GH, Korver CM, van Daalen SK, Hovingh SE, et al. 2009. Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum. Reprod. 24:2667-73
141. Vlasak I, Plochl E, Kronberger G, Bergendi E, Rittinger O, et al. 1999. Screening of patients withTurner syndrome for "hidden" Y-mosaicism. Klin. Padiatr. 211:30-34 (Pubitemid 29063103)
142. Vogt MH, Goulmy E, Kloosterboer FM, Blokland E, de Paus RA, et al. 2000. UTY gene codes for an HLA-B60-restricted human male-specific minor histocompatibility antigen involved in stem cell graft rejection: characterization of the critical polymorphic amino acid residues for T-cell recognition. Blood 96:3126-32
143. Vogt MH, van den Muijsenberg JW, Goulmy E, Spierings E, Kluck P, et al. 2002. The DBY gene codes for an HLA-DQ5-restricted human male-specific minor histocompatibility antigen involved in graft-versus-host disease. Blood 99:3027-32 (Pubitemid 34525395)
144. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al. 1996. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5:933-43 (Pubitemid 26232272)
145. Wang W, Meadows LR, den Haan JM, Sherman NE, Chen Y, et al. 1995. Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein. Science 269:1588-90
146. Warren E, Gavin M, Simpson E, Chandler P, Page D, et al. 2000. The human UTY gene encodes a novel HLA-B8-restricted H-Y antigen. J. Immunol. 164:2807-14 (Pubitemid 30115516)
147. Watson JM, Spencer JA, Riggs AD, Graves JA. 1991. Sex chromosome evolution: Platypus gene mapping suggests that part of the human X chromosome was originally autosomal. Proc. Natl. Acad. Sci. USA 88:11256-60 (Pubitemid 21916019)
148. Wilcox SA, Watson JM, Spencer JA, Graves JAM. 1996.comparative mapping identifies the fusion point of an ancient mammalian X-autosomal rearrangement. Genomics 35:66-70 (Pubitemid 26236152)
149. Wilder JA, Mobasher Z, Hammer MF. 2004. Genetic evidence for unequal effective population sizes of human females and males. Mol. Biol. Evol. 21:2047-57 (Pubitemid 39391981)
150. Xue Y, Wang Q, Long Q, Ng BL, Swerdlow H, et al. 2009. Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr. Biol. 19:1453-57
151. Yen PH, Chai NN, Salido EC. 1996. The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Mol. Genet. 5:2013-17 (Pubitemid 26413647)