Y Chromosome Function in Spermatogenesis

  • Peter Vogt
Part of the Schering Foundation Workshop book series (SCHERING FOUND, volume 4)


In mammals a function of the Y chromosome during spermatogenesis has long been hidden by the sex determining function of the Y chromosome in this species class. In contrast to Drosophila, where a X,O-karyotype is compatible with a normal viable male, although sterile, in humans the same karyotype is related to a female with sterility and different phenotype abnormalities commonly known as Turner’s syndrome (Turner 1938). This state of affairs persisted until 1976, when Tiepolo and Zuffardi (1976) presented clear evidence that the human Y chromosome also must have a function in spermatogenesis. Analyzing a terminal deletion in the Y chromosome of six sterile males with a normal phenotype but azoospermia, they suggested a male fertility gene complex called azoospermia factor (AZF), and located to the distal region of the euchromatic part of the long Y arm (Yg11).


Sertoli Cell Sterile Male Chromosome Function Cytogenet Cell Pseudoautosomal Region 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Alvesalo L, de la Chapelle A (1981) Tooth size in two males with deletions of the long arm of the Y chromosome. Ann Hum Genet 54: 49–54Google Scholar
  2. Andersson M, Page DC, Brown LG, Elfving K, de la Chapelle A (1988a) Characterization of a (Y;4) translocation by DNA hybridization. Hum Genet 78: 377–381PubMedGoogle Scholar
  3. Andersson M, Page DC, Pettay D, Subrt I, Turleau C, Grouchy J, de la Chapelle A (1988b) Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq l 1. Hum Genet 79: 2–7PubMedGoogle Scholar
  4. Arnemann J, Jakubiczka S, Thüring S, Schmidtke J (1991) Cloning and sequence analysis of human Y chromosome-derived, testicular cDNA, TSPY. Genomics 11: 108–114Google Scholar
  5. Ballabio A, Carrozzo R, Gil A, Gillard B, Affara N, Ferguson-Smith MA, Fraser N, Craig I, Rocchi M, Romeo G, Andria G (1989) Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Xq. Ann Hum Genet 53: 9–14PubMedGoogle Scholar
  6. Bandmann HJ, Breit R (1984) Klinefelter’s syndrome. Springer Verlag, HeidelbergGoogle Scholar
  7. Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi G, Fraccaro M, Camerino G (1991) A deletion map of the human Ygil region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 11: 443–451Google Scholar
  8. Bernstein R (1985) X;Y chromosome translocations and their manifestations. In: Sandberg AA (ed) The Y chromosome, Part B: Clinical aspects of Y chromosome abnormalities (Alan R. Liss, Inc., New York ) p 171–206Google Scholar
  9. Beverstock GC, Macfarlane JD, Veenema H, Hoekman H, Goodfellow PJ (1989) Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter-811.1:) karyotype of an infertile male. J Med Genet 26: 330–342PubMedGoogle Scholar
  10. Billingham RE, Hings IM (1981) The H-Y antigen and its role in natural transplantation. Hum Genet 58: 9–17PubMedGoogle Scholar
  11. Bishop CE, Hatat D (1987) Molecular cloning and sequence analysis of a mouse Y chromosome RNA transcript expressed in the testis. Nucleic Acids Res 15: 2959–2969PubMedGoogle Scholar
  12. Bishop C, Guellaen G, Geldwerth D, Fellous M, Weissenbach J (1984) Extensive sequence homologies between the Y and other human chromosomes. J Mol Biol 173: 403–417PubMedGoogle Scholar
  13. Bobrow M, Pearson PL, Pike MC, El-Alfi OS (1971) Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes. Cytogenetics 10: 190–198PubMedGoogle Scholar
  14. Bourgoyne P (1982) Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum Genet 61: 85–90Google Scholar
  15. Bourgoyne P (1991) Y chromosome function in mammalian development. Adv in Developmental Biology vol 1: 1–29Google Scholar
  16. Brown SW (1966) Heterochromatin, Science 151: 418–425Google Scholar
  17. Bühler EM, Müller H, Müller J, Stalder GR (1971) Variant of the fluorescence pattern in an abnormal human Y chromosome. Nature 234: 348PubMedGoogle Scholar
  18. Cantrell MA, Simpson E, Bicknell JN, Pagon RA, Walker DC, Thuline HC, Graham JM, Disteche CM (1989) Absence of H-Y antigen expression in a patient with deletion of the long arm of the Y chromosome and isolation of new DNA probes for region 6 of the Y chromosome. Am J Hum Genet 45: A134Google Scholar
  19. Caspersson T, Zech L, Johansson J, Lindsten J, Therkelsen A, Zech L (1971) Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics. Hereditas 68: 281–304Google Scholar
  20. Chandley A (1989) Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man. J Med Genet 26: 546–552PubMedGoogle Scholar
  21. Chandley AC, Edmond P (1971) Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics 10: 295–304PubMedGoogle Scholar
  22. Chandley A, Maclean N, Edmond P, Fletcher J, Watson GS (1976) Cytogenetics and infertility in man. II. Testicular histology and meiosis. Ann Hum Genet 40: 165–176Google Scholar
  23. Chandley A, Goetz P, Hargreave TB, Joseph AM, Speed RM (1984) On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet. 38: 241–247PubMedGoogle Scholar
  24. Chandley AC, Ambros P, McBeath S, Hargreave TB, Kilanowski F, Spowart G (1986) Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum Genet 73: 350–353PubMedGoogle Scholar
  25. Coyne JA (1985) The genetic basis of Haldane’s rule. Nature 314: 736–738PubMedGoogle Scholar
  26. Daiger SP, Wildin RS, Su T-S (1982) Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Na-ture 298: 682–684Google Scholar
  27. Daniel A (1985) Y isochromosomes and rings. In: Sandberg AA (ed) The Y chromosome, Part B: Clinical aspects of Y chromosome abnormalities. Alan R. Liss, Inc., New York, pp 105–135Google Scholar
  28. de Kretser DM, Burger HG, Hudson B (1974) The relationship between germinal cells and serum FSH levels in males with infertility. Clin Endocrinol Metab 38: 787–793Google Scholar
  29. de la Chapelle A (1981) The etiology of maleness in XX men. Hum Genet 58: 105–116PubMedGoogle Scholar
  30. de la Chapelle A, Page DC, Brown L, Kaski U, Parvinen T, Tippett A (1986) The origin of 45,X males. Am J Hum Genet 38: 330–340PubMedGoogle Scholar
  31. Disteche CM, Brown L, Saal H, Friedman C, Thuline HC, Hoar DI, Pagon RA, Page DC (1986a) Molecular detection of a translocation (Y;15) in a 45,X male. Hum Genet 74: 372–377PubMedGoogle Scholar
  32. Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, Graham J, Thuline H, Page DC, Fellous M (1986b) Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci USA 83: 7841–7844PubMedGoogle Scholar
  33. Donlon TA, Müller U (1991) Deletion mapping of DNA segments from the Y chromosome long arm and their analysis in an XX male. Genomics 10: 51–56PubMedGoogle Scholar
  34. Evans HJ, Gosden JR, Mitchell AR, Buckland RA (1974) Location of human satellite DNAs on the Y chromosome. Nature 251: 346–347Google Scholar
  35. Ferguson-Smith MA, Affara NA, Magenis RE (1987) Ordering of Y specific sequences by deletion mapping and analysis of X-Y interchange males and females. Development 101 (Supplement): 41–50PubMedGoogle Scholar
  36. Fernandez-Piqueras J, Ludefia P, De Cabo SF, Velazquez M, Sentis C (1991) Longitudinal differentiation of the human Yq heterochromatin as revealed by the restriction enzyme TaqI. Cytogenet Cell Genet 57: 78–81PubMedGoogle Scholar
  37. Fisher EMC, Alitalo T, Luoh S-W, de la Chapelle A, Page DC (1990a) Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq homology. Genomics 7: 625–628PubMedGoogle Scholar
  38. Fisher EMC, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence JB, Willard HF, Bieber FR, Page DC (1990b) Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome. Cell 63: 1205–1218Google Scholar
  39. Fryns JP, Cassiman JJ, Van den Berghe H (1978) Unusual in vivo rearrangments of the Y chromosome with mitotic instability in vitro. Hum Genet 44: 349–355PubMedGoogle Scholar
  40. Fryns P, Kleczkowska A, Van den Berghe H (1985) Clinical manifestations of Y/autosome translocations in man. In: Sandberg AA (ed) The Y chromosome, Part B: Clinical aspects of Y chromosome abnormalities Alan R. Liss, Inc., New York pp 213–243Google Scholar
  41. Gabriel-Robez O, Rumpler Y, Ratomponirina C, Petit C, Levilliers J, Croquette MF, Couturier J (1990) Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation. Cytogenet Cell Genet 54: 38–42PubMedGoogle Scholar
  42. Gal A, Weber B, Neri G, Serra A, Müller U, Schempp W, Page DC (1987) A 45,X male with Y-specific DNA translocated onto chromosome 15. Am J Hum Genet 40: 477–488PubMedGoogle Scholar
  43. Giraud F, Mattei JF, Lucas C, Mattai MG (1977) Four new cases of dicentric Y chromosomes. Hum Genet 36: 249–260PubMedGoogle Scholar
  44. Gomez-Pedrozo M, Mohandas T, Sparkes R, Shaw J-P, Hess JF, Ayres TM, Shen C-KJ (1987) Evolution of human cytoplasmic actin gene sequences: chromosome mapping and structural characterizations of three cytoplasmic actin-like pseudogenes including one on the Y chromosome. J Hum Evol 16: 215–230Google Scholar
  45. Goodfellow PJ, Darling SM, Thomas NS, Goodfellow PN (1986) A pseudoautosomal gene in man. Science 234: 740–742PubMedGoogle Scholar
  46. Gough NM, Gearing DP, Nicola NA, Baker E, Pritchard M, Callen DF, Sutherland GR (1990) Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 345: 734–736PubMedGoogle Scholar
  47. Hartung M, Devictor M, Codaccioni JL, Stahl A (1988) Yq deletion and failure of spermatogenesis. Ann Genet 31: 21–26PubMedGoogle Scholar
  48. Henke A, Wapenaar M, van Ommen GJ, Maraschio P, Camerino G, Rappold G (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet 49: 811–819PubMedGoogle Scholar
  49. Jalal SM, Pfeiffer RA, Pathak S, Hsu TC (1974) Subdivision of the human Y chromosome. Humangenetik 24: 59–65PubMedGoogle Scholar
  50. Johnson MD, Tho SPT, Behzadian A, McDonough PG (1989) Molecular scanning of Yg11 (interval 6) in men with Sertoli-cell-only syndrome. Am J Obstet Gynecol 161: 1732–1737PubMedGoogle Scholar
  51. Jutley JK, Stewart AD (1985) Genetic analysis of the Y chromosome of the mouse: evidence for two loci affecting androgen metabolism. Genet Res Camb 47: 29–34Google Scholar
  52. Kay GF, Ashworth A, Penny GD, Dunlop M, Swift S, Brockdorff N, Rastan S (1991) A candidate spermatogenesis gene on the mouse Y chromosome is homologous to ubiquitin-activating enzyme El. Nature 354: 486–489PubMedGoogle Scholar
  53. Kelberman L, Barlow P, Vosa CG (1970) The Y chromosome in human spermatozoa. Nature 226: 961–962Google Scholar
  54. Knowlton RG, Nelson CA, Brown VA, Page DC, Donis-Keller H (1989) An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome. Nucl Acid Res 17: 423–437Google Scholar
  55. Koopman P, Ashworth A, Lovell-Badge R (1991) The ZFY gene family in humans and mice. T I G 7: 132–136Google Scholar
  56. Kosztolanyi G, Trixler M (1983) Yq deletion with short stature, abnormal male development, and schizoid character disorder. J Med Genet 20: 393–394PubMedGoogle Scholar
  57. Lau YFC, Chan K (1989) The putative testis-determining factor and related genes are expressed as discrete-sized transcripts in adult gonadal and somatic tissues. Am J Hum Genet 45: 942–952PubMedGoogle Scholar
  58. Leroy P, Seboun E, Mattei MG, Fellous M, Bishop CE (1987) Testis-specific transcripts detected by a human Y-DNA-derived probe. Development 101 (Supplement), 177–183PubMedGoogle Scholar
  59. Levy ER, Burgoyne PS (1986) The fate of XO germ cells in the testes of XO/XY and XO/XY/XYY mouse mosaics: evidence for a spermatogenesis gene on the mouse Y chromosome. Cytogenet Cell Genet 42: 208–213PubMedGoogle Scholar
  60. Limon J, Gibas Z, Kaluzewski B, Moruzgala T (1979) Demonstration of two different regions of lateral asymmetry in human Y chromosomes. Hum Genet 51: 247–252PubMedGoogle Scholar
  61. Lucotte G, Ngo NY (1985) p49f, a highly polymorphic probe, that detects TaqI RFLPs on the human Y chromosome. Nucl Acid Res 13: 8285Google Scholar
  62. Lukusa T, Fryns JP, van den Berghe H (1986) Gonadoblastoma and Y-chro-mosome fluorescence. Clin Genet 29: 311–316PubMedGoogle Scholar
  63. Ma K, Sharkey A, Kirsch S, Vogt P, Hargreave TB, McBeath S, Chandley AC (1992) Towards the molecular localization of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. submittedGoogle Scholar
  64. Magenis E, Donlon T (1982) Nonfluorescent Y chromosomes. Cytological evidence of origin. Hum Genet 60: 133–138Google Scholar
  65. Malaspina P, Persichetti F, Novelletto A, lodice C, Terrenato L, Wolfe J, Ferraro M, Prantera G (1990) The human Y chromosome shows a low level of DNA polymorphism. Ann Hum Genet 54: 297–305PubMedGoogle Scholar
  66. Mikelsaar A-vN, Tüür SJ Käosaar ME (1973) Human karyotype polymorphism. I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population. Humangenetik 20: 89–101Google Scholar
  67. Mitchell MJ, Woods DR, Tucker PK, Opp JS, Bishop CE (1991) Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme El. Nature 354: 483–486PubMedGoogle Scholar
  68. Müller U, Fontaine D, Adinolfi M, Fraccaro M and Lalande M (1989) Analysis of complex Y chromosome aberrations using a single DNA probe (Y367). Cytogenet Cell Genet 50: 161–164PubMedGoogle Scholar
  69. Müller U, Lalande M (1990) A physical map of the human Y chromosome short arm. Genomics 7: 517–523PubMedGoogle Scholar
  70. Nagamine CM, Chan K, Kozak CA and Lau Y-F (1989) Chromosome mapping and expression of a putative testis-determing gene in mouse. Science 243: 80–83PubMedGoogle Scholar
  71. Nakahori Y, Takenaka O, Nakagome Y (1991) A human X-Y homologous region encodes “amelogenin”. Genomics 9: 264–269PubMedGoogle Scholar
  72. Neu RL, Matthew MS, Barlow Jr MD, Gardner LI (1973) A 46,XYq-male with aspermia. Fertil Steril 24: 811–813PubMedGoogle Scholar
  73. Ngo KY, Vergnaud G, Johnsson C, Lucotte G, Weissenbach J (1986) A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet 38: 407–418PubMedGoogle Scholar
  74. North M, Sargent C, O’Brien J, Taylor K, Wolfe J, Affara NA, Ferguson-Smith MA (1991) Comparison of ZFY and ZFX gene structure and analysis of alternative 3’untranslated regions of ZFY. Nucl Acid Res 19: 2579–2586Google Scholar
  75. Ohno S, Nagai Y, Ciccarese S, Iwata H (1979) Testis-organizing H-Y antigen and the primary sex-determining mechanism of mammals. Recent Prog Horm Res 35: 449–476PubMedGoogle Scholar
  76. Oosthuizen CJJ, Herbert JS, Vermaak LK, Brusnicky J, Fricke J, du Plessis L, Retief AE (1990) Deletion mapping of 39 random isolated Y chromosome DNA fragments. Hum Genet 85: 205–210PubMedGoogle Scholar
  77. Page DC (1987) Hypothesis: a Y chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101 (Supplement): 151–155PubMedGoogle Scholar
  78. Page DC, Harper ME, Love J, Botstein D (1984) Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311: 119–123PubMedGoogle Scholar
  79. Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollack J, McGillivray B, de la Chapelle A, Brown LG (1987) The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51: 1091–1104PubMedGoogle Scholar
  80. Pearson PL, Bobrow M, Vosa CG (1970) Technique for Identifying Y chromosomes in human interphase nuclei. Nature 226: 78–80PubMedGoogle Scholar
  81. Pedicini A, Camerino G, Avarello R, Guioli S, Zuffardi O (1991) Probe St35239 (DXYS64) reveals homology between the distal ends of Xq and Yq. Genomics 11: 482–483PubMedGoogle Scholar
  82. Pfeiffer RA, Lambertz B, Friederiszick FK, Distel H, Pawlowitzki IH, Nicole R, Ober KG, Ruckes J (1968) Die nosologische Stellung des X0/XY-Mosaizismus. Archiv f Gynäkologie 206: 369–410Google Scholar
  83. Petit C, de la Chapelle A, Levilliers J, Castillo S, Noel B, Weissenbach J (1987) An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell 49: 595–602PubMedGoogle Scholar
  84. Pohlschmidt M, Rappold G, Krause M, Ahlert D, Hosenfeld D, Weissenbach J, Gal A (1991) Ring Y chromosome: molecular characterization by DNA probes. Cytogenet Cell Genet 56: 65–68PubMedGoogle Scholar
  85. Rappold G and Lehrach H (1988). A long range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere. Nucl Acids Res 16: 5361–5377PubMedGoogle Scholar
  86. Reitalu J (1973) A familial Y-22 translocation in man. Hereditas 74: 155–160PubMedGoogle Scholar
  87. Rouyer F, Simmler M-C, Johnsson C, Vergnaud G, Cooke HJ, Weissenbach J (1986). A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 319: 291–295PubMedGoogle Scholar
  88. Schempp W (1985) High resolution replication of the human Y chromosome. In: Sandberg AA (editor) The Y chromosome Part A: Basic characteristics of the Y chromosome. Alan R. Liss, New York, pp 357–371Google Scholar
  89. Schneider-Gädicke A, Beer-Romero P, Brown LG, Mardon G, Luoh S-W, Page DC (1989) Putative transcription activator with alternative isoforms encoded by human ZFX gene. Nature 342: 708–711PubMedGoogle Scholar
  90. Scully RE (1970) Gonadoblastoma: a review of 74 cases. Cancer 25: 1340–1356PubMedGoogle Scholar
  91. Seboun E, Leroy P, Casanova M, Magenis E, Boucekkine C, Disteche C, Bishop C, Fellous M (1986) A molecular approach to the study of the human Y chromosome and anomalies of sex determination in man. Cold Spring Harbor Symp: Molecular biology of homo sapiens. Vol 51: 237–248Google Scholar
  92. Simpson E, Chandler P, Goulmy E, Page DC, Disteche C, Ferguson-Smith MA (1987) Separation of the genetic loci for the H-Y antigen and testis determination on human Y chromosome. Nature 326: 876–878PubMedGoogle Scholar
  93. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf A, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240–244PubMedGoogle Scholar
  94. Smith A, Fraser IS, Elliot G (1979) An infertile male with balanced Y;19 translocation. Review of Y;autosome translocations. Ann Genet 22: 189194Google Scholar
  95. Smith KD, Young KE, Talbot CC, Schmeckpeper BJ (1987) Repeated DNA of the human Y chromosome. Development 101 (Suplement): 77–92.PubMedGoogle Scholar
  96. Sohval AR (1964) Hermaphroditism with “atypical” or “mixed” gonadal dys-genesis. Amer J Med 36: 281–292PubMedGoogle Scholar
  97. Solari AJ (1980) Synaptonemal complexes and associated structures in micro-spread human spermatocytes. Chromosoma 81: 315–337PubMedGoogle Scholar
  98. Soudek D, Langmuir V, Stewart DJ (1973) Variation in the nonfluorescent segment of long Y chromosome. Humangenetik 18: 285–290PubMedGoogle Scholar
  99. Speed RM, Chandley AC (1990) Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum Genet 84: 547–554PubMedGoogle Scholar
  100. Speed RM, Faed MJW, Batstone PJ, Baxby K, Barnetson W (1991) Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man. Hum Genet 87: 416–420PubMedGoogle Scholar
  101. Sperling K, Lackmann I (1971) Large human Y chromosome with two fluorescent bands. Clinical Genetics 2: 352–355PubMedGoogle Scholar
  102. Spurdle AB, Morris DJ, Jenkins T (1989) Y-chromosome probe p49f detects new TaqI variants and complex PvuII haplotypes. Cytogenet Cell Genet 51: 1084Google Scholar
  103. Stahl A, Hartung M, Devictor M, Berge’-Lefranc J-L (1984) The association of the nucleolus and the short arm of acrocentric chromosomes with the XY pair in human spermatocytes: its possible role in facilitating sex-chromosome acrocentric translocations. Hum Genet 68: 173–180PubMedGoogle Scholar
  104. Steinbach P, Fabry H, Scholz W (1979) Unstable ring Y chromosome in an aspermic male. Hum Genet 47: 227–231PubMedGoogle Scholar
  105. Stewart AD (1983) The role of the Y chromosome in mammalian sexual differentiation. In: Johnson MH (ed) Development in mammals, Elsevier, Amsterdam, pp 321–367Google Scholar
  106. Sutcliffe MJ, Bourgoyne PS (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: 373–380Google Scholar
  107. Tiepolo L, Zuffardi 0 (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34: 119–124Google Scholar
  108. Turner HH (1938) A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology 23: 566–574Google Scholar
  109. Tyler-Smith C, Taylor L (1988) Structure of a hypervariable tandemly repeated DNA sequence on the short arm of the human Y chromosome. J Mol Biol 203: 837–848PubMedGoogle Scholar
  110. Tyrkus M, Postellon D, Hoffman WH, Bawle E, Wooley PV (1979) Evidence for male determining loci on the Y chromosome. Am J Hum Gen 31: 113AGoogle Scholar
  111. Vergnaud G, Page DC, Simmler M-C, Brown L, Rouyer F, Noel B, Botstein D, de la Chapelle A, Weissenbach J (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 38: 109–124PubMedGoogle Scholar
  112. Vogt P (1992) Wurde die genetische Funktion des Y Chromosoms während der männlichen Keimzell-Entwicklung bisher unterschätzt ? Dt Ärztebl 89 (5A1): 294–295Google Scholar
  113. Vogt P, Keil R, Köhler MD, Lengauer C, Lewe D, Lewe G (1991a) Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei. Hum Gen 86: 341–349Google Scholar
  114. Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A (199 lb) Towards the molecular localization of AZF, a male fertility gene on the human Y chromosome by cooperative mapping of microdeletions in the Y chromosome of men with idiopathic infertility. Am J Hum Genet 49: supplementGoogle Scholar
  115. Vogt P, Keil R, Köhler M, Tariverdian G, Chandley AC, Kun M, Sharkey A, Hargreave TB, Wegner R (1991c) In: Collins J, Driesel AJ (eds) Genome analysis: From sequence to function. Adv in Mol Gen 4: 277–280Google Scholar
  116. Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A (1992) Micro-deletions in interval 6 of the Y chromosome of azoospermic males points to a disruption of AZF, a human spermatogenesis gene. (submitted)Google Scholar
  117. Wachtel SS (1983) H-Y antigen and the biology of sex determination. Grune & Stratton, New YorkGoogle Scholar
  118. Wahlström J (1985) Y/Y translocations and their cytologic and clinical manifestations. In: Sandberg AA (ed) The Y chromosome, Part B: Clinical Aspects of Y chromosome abnormalities Alan R. Liss, New York pp 207–212Google Scholar
  119. Weissenbach J, Goodfellow PN (1990) Report of the committee on the genetic constitution of the Y chromosome. Cytogenet Cell Genet 55: 314–320PubMedGoogle Scholar
  120. Weissenbach J, Goodfellow PN, Smith KD (1989) Report of the committee on the genetic constitution of the Y chromosome. Cytogenet Cell Genet 51: 438–449PubMedGoogle Scholar
  121. Wiberg UH (1987) Facts and considerations about sex-specific antigens. Hum Genet 76: 207–219PubMedGoogle Scholar
  122. Willison K, Ashworth A (1987) Mammalian spermatogenic gene expression. T I G 3: 351–355Google Scholar
  123. Wilson MG, Stein RB, Towner JW (1976) Ring Y chromosome without mosaicism. Birth Defects 12, 105–112PubMedGoogle Scholar
  124. Yamada K, Nanko S, Hattori S, Isurugi K (1982) Cytogenetic studies in a Yto-X translocation observed in three members of one family, with evidence of infertility in male carriers. Hum Genet 60: 85–90PubMedGoogle Scholar
  125. Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Conolly L, Neiswanger K, Shapiro LJ (1988) The human X-linked steroid sulfatase gene and a Y encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55: 1123–1135PubMedGoogle Scholar
  126. Yunis E, Garcia-Conti L, Torres de Caballero OM, Giraldo A (1977) Yq deletion, aspermia, and short stature. Hum Genet 39: 117–122PubMedGoogle Scholar
  127. Yunis JJ, Ball DW, Sawyer JR (1979) G-banding patterns of high-resolution human chromosomes 6–22,X, and Y. Hum Genet 49: 291–306PubMedGoogle Scholar
  128. Zenzes MT, Wolf U, Engel W (1978) Organization in vitro of ovarian cells into testicular structures. Hum Genet 44: 333–338PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1992

Authors and Affiliations

  • Peter Vogt

There are no affiliations available

Personalised recommendations