Hostname: page-component-7c8c6479df-nwzlb Total loading time: 0 Render date: 2024-03-28T04:46:32.375Z Has data issue: false hasContentIssue false

Genes and phenotypes of the human Y chromosome

Published online by Cambridge University Press:  02 March 2009

Alan J Schafer*
Affiliation:
University of Cambridge, Cambridge, UK
*
Alan J Schafer, Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK.

Extract

By 1959 it was recognized that the gene (or genes) responsible for initiating the human male phenotype were carried on the Y chromosome. But in subsequent years, few phenotypes were associated with the Y chromosome. Recently, using molecular techniques combined with classical genetics, the Y chromosome has been the focus of intensive and productive investigation. Some of the findings are unexpected and have extended our understanding of the functions of the human Y chromosome. The notion that the Y chromosome is largely devoid of genes is changing. At the present, over 20 Y chromosome genes or pseudogenes have been identified or cloned, a number that is rapidly increasing. A high proportion of Y chromosome sequences have been found to be related to X chromosome sequences: the assembly of a complete physical map of the Y chromosome euchromatic region (believed to carry all of the genes) has shown 25% of the region studied to have homology to the X chromosome.3 Several X-homologous genes are located in the X and Y chromosome pairing regions, an area predicted to have shared homology. Surprisingly, some of the Y-encoded genes that lie outside of the X and Y pairing region share high sequence similarity, and in at least one case, functional identity, with genes on the X chromosome.

Type
Articles
Copyright
Copyright © Cambridge University Press 1994

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1 Ford, CE, Jones, KW, Polani, PE, de Almeida, JC, Briggs, JH. A sex chromosome anomaly in a case of gonadal sex dysgenesis (Turner's syndrome). Lancet 1959; i: 711–13.Google Scholar
2 Jacobs, PA, Strong, JA. A case of human intersexuality having a possible XXY sex determining mechanism. Nature 1959; 183: 302303.Google Scholar
3 Foote, S, Vollrath, D, Hilton, A, Page, DC. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 1992; 258: 6066.Google Scholar
4 Sinclair, AH, Berta, P, Palmer, MS et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990; 346: 240–44.Google Scholar
5 Goodfellow, PN, Craig, IW, Smith, JC, Wolf, J eds. The mammalian Y chromosome: molecular search for the sex-determining factor. Cambridge: The Company of Biologists Limited, 1987; Development; 101 [suppl]: 1–203.Google Scholar
6 Ellis, NA. The human Y chromosome. Seminars Dev Biol 1991; 2: 231–40.Google Scholar
7 Wolf, U, Schempp, W, Scherer, G. Molecular biology of the human Y chromosome. Rev Physiol Biochem Pharmacol 1992; 121: 147213.Google Scholar
8 McLaren, A, Ferguson-Smith, MA eds. Sex determination in mouse and man. Philos Trans R Soc London [Biol] 1988; 322: 1157.Google Scholar
9 Goodfellow, PN, Lovell-Badge, R. SRY and sex determination in mammals. Ann Rev Genet 1993; 27: 7192.Google Scholar
10 Reed, KC, Graves, JAM eds. Sex chromosomes and sex determining genes. Switzerland: Harwood Academic Publishers, 1993: 410.Google Scholar
11 Wachtel, SS ed. Molecular genetics of sex determination. San Diego: Academic Press, 1994: 518.Google Scholar
12 Morton, NE. Parameters of the human genome. Proc Natl Acad Sci USA 1991; 88: 7474–76.Google Scholar
13 Pearson, PL, Bobrow, M. Definitive evidence for the short arm of the Y chromosome associating with the X during meiosis in the human male. Nature 1970; 226: 959–61.Google Scholar
14 Chandley, AC, Goetz, P, Hargreave, TB, Joseph, AM, Speed, RM. On the nature and extent of XY pairing at meitoic prophase in man. Cytogenet Cell Genet 1984; 38: 241–47.Google Scholar
15 Mohandas, TK, Speed, RM, Passage, MB, Yen, PH, Chandley, AC, Shapiro, LJ. 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 1992; 51: 526–33.Google Scholar
16 Koller, PC, Darlington, CD. The genetical and mechanical properties of the sex chromosomes. 1: Rattus norvegiens. J Genet 1934; 29: 159–73.Google Scholar
17 Burgoyne, PS. Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum Genet 1982; 61: 8590.Google Scholar
18 Simmler, M-C, Rouyer, F, Vergnaud, G et al. Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 1985; 317: 692–97.Google Scholar
19 Rouyer, F, Simmler, M-C, Johnsson, C, Vergnaud, G, Cooke, HJ, Weissenbach, J. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 1986; 319: 291–95.Google Scholar
20 Cooke, HJ, Brown, WRA, Rappold, GA. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 1985; 317: 687–92.Google Scholar
21 Müller, U, Lalande, M. A physical map of the human Y-chromosome short arm. Genomics 1990; 7: 517–23.Google Scholar
22 Ellis, N, Yen, P, Neiswanger, K, Shapiro, LJ, Goodfellow, PN. Evolution of the pseudoautosomal boundary in Old World monkeys and great apes. Cell 1990; 63: 977–86.Google Scholar
23 Freije, D, Helms, C, Watson, MS, Donis-Keller, H. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 1992; 258: 1784–87.Google Scholar
24 Affara, NA, Ferguson-Smith, MA. DNA sequence homology between the human sex chromosomes. In: Wachtel, SS ed. Molecular genetics of sex determination. San Diego: Academic Press, 1994: 225–66.Google Scholar
25 Ballabio, A, Carrozzo, R, Gil, A et al. Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann Hum Genet 1989; 53: 914.Google Scholar
26 Bardoni, B, Zuffardi, O, Guioli, S et al. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics 1991; 11: 443–51.Google Scholar
27 Yen, PH, Tsai, SP, Wenger, SL, Steele, MW, Mohandas, TK, Shapiro, LJ. X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. Proc Natl Acad Sci USA 1991; 88: 8944–48.Google Scholar
28 Cooke, HJ, Fantes, J, Green, D. Structure and evolution of human Y chromosome DNA. Differentiation 1983; 23: S48S55.Google Scholar
29 Smith, KD, Young, KE, Talbot, CJ, Schmeckpeper, BJ. Repeated DNA of the human Y chromosome. Development[suppl] 1987; 101: 7792.Google Scholar
30 Caspersson, T, Zech, L, Johansson, C, Modest, EJ. Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 1970; 30: 215–27.Google Scholar
31 Wall, WJ, Butler, LJ. Classification of Y chromosome polymorphisms by DNA content and C-banding. Chromosoma 1989; 97: 296300.Google Scholar
32 Sandberg, AA ed. The Y chromosome. Pan A: Basic characteristics of the Y chromosome. New York: Alan R Liss, 1985:595.Google Scholar
33 Cooke, HJ. Repeated sequence specific to human males. Nature 1976; 262: 182–86.Google Scholar
34 Lau, Y-F. Organization of the human Y-specific Hae III 3.4-kb repeat sequences and their application in clinical diagnosis. In: Sandberg, AA ed. The Y chromosome: Part A: Basic characteristics of the Y chromosome. New York: Alan R Liss 1985: 177–92.Google Scholar
35 Schmid, M, Guttenbach, M, Nanda, I, Studer, R, Epplen, JT. Organization of DYZ2 repetitive DNA on the human Y chromosome. Genomics 1990; 6: 212–18.Google Scholar
36 Wevrick, R, Willard, HF. Long range organization of tandem arrays of alpha-satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability. Proc Natl Acad Sci USA 1989; 86: 9394–98.Google Scholar
37 Oakey, R, Tyler-Smith, C. Y chromosome DNA haplotyping suggests that most European and Asian men are descended from one of two males. Genomics 1990; 7: 325–30.Google Scholar
38 Tyler-Smith, C, Oakey, RJ, Larin, Z et al. Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet 1993; 5: 368–75.Google Scholar
39 Petit, C, Levilliers, J, Rouyer, F, Simmler, MC, Herouin, E, Weissenbach, J. Isolation of sequences from Xp22.3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals. Genomics 1990; 6: 651–58.Google Scholar
40 Brown, WRA. A physical map of the human pseudoautosomal region. EMBO J 1988; 7: 2377–85.Google Scholar
41 Petit, C, Levilliers, J, Weissenmach, J. Physical mapping of the human pseudoautosomal region; comparison with genetic linkage map. EMBOJ 1988; 7: 2369–76.Google Scholar
42 Rouyer, F, de la Chapelle, A, Andersson, M, Weissenbach, J. An interspersed repeated sequence specific for human subtelomeric regions. EMBOJ 1990; 9: 505–14.Google Scholar
43 Goodfellow, PN, Ramsay, M, Weissenbach, J. Report of the committee on the genetic constitution of the Y chromosome. Genome Priority Report 1993; 1: 641–57.Google Scholar
44 Gough, NM, Gearing, DP, Nicola, NA et al. Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 1990; 345: 734–36.Google Scholar
45 Kremer, E, Baker, E, Dandrea, RJ et al. A cytokine receptor gene cluster in the X-Y pseudoautosomal region. Blood 1993; 82: 2228.Google Scholar
46 Milatovich, A, Kitamura, T, Miyajima, A, Francke, U. Gene for the alpha-subunit of the human interleukin-3 receptor (IL-3RA) localized to the X-Y pseudoautosomal region. Am J Hum Genet 1993; 53: 1146–53.Google Scholar
47 Schiebel, K, Weiss, B, Wohrle, D, Rappold, G. A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. Nat Genet 1993; 3: 8287.Google Scholar
48 Slim, R, Levilliers, J, Ludecke, HJ et al. A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation. Genomics 1993; 16: 2633.Google Scholar
49 Yi, H, Donohue, SJ, Klein, DC, McBride, OW. Localization of the hydroxyindole-O-methyl-transferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders. Hum Mol Genet 1993; 2: 127–31.Google Scholar
50 Ellison, J, Passage, M, Yu, LC, Yen, P, Mohandas, TK, Shapiro, L. Directed isolation of human genes that escape X inactivation. Somat Cell Mol Genet 1992; 18: 259–68.Google Scholar
51 Ellison, JW, Ramos, C, Yen, PH, Shapiro, LJ. Structure and expression of the human pseudoautosomal gene XE7. Hum Mol Genet 1992; 1: 691–96.Google Scholar
52 Goodfellow, P, Pym, B, Mohandas, T, Shapiro, LJ. The cell surface antigen locus, M1C2X, escapes X-inactivation. Am J Hum Genet 1984; 36: 777–82.Google Scholar
53 Goodfellow, PN. Expression of the 12E7 antigen is controlled independently by genes on the human X and Y chromosomes. Differentiation 1983; 23: S3539.Google Scholar
54 Darling, SM, Banting, GS, Pym, B, Wolfe, J, Goodfellow, PN. Cloning an expressed gene shared by the human sex chromosomes. Proc Natl Acad Sci USA 1986; 83: 135–39.Google Scholar
55 Ellis, NA, Tian-Zhang, Y, Patton, S, German, J, Goodfellow, PN, Weller, P. Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nat Genet 1994; 6: 394400.Google Scholar
56 Behlke, MA, Bogan, JS, Beer-Romero, P, Page, DC. Evidence that the SRY protein is encoded by a single exon on the human Y chromosome. Genomics 1993; 17: 736–39.Google Scholar
57 Fisher, EM, Beer, RP, Brown, LG et al. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell 1990; 63: 1205–18.Google Scholar
58 Burgoyne, PS. The genetics of sex in development. In: Hamilton, D, Naftolin, F eds. Basic reproductive medicine. Cambridge: MIT Press, 1981: 131.Google Scholar
59 Watanabe, M, Zinn, AR, Page, DC, Nishimoto, T. Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nat Genet 1993; 4: 268–71.Google Scholar
60 Just, W, Geerkens, C, Held, KR, Vogel, W. Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet 1992; 89: 240–42.Google Scholar
61 Müller, U, Kirkels, VG, Scheres, JM. Absence of Turner stigmata in a 46, XYp-female. Hum Genet 1992; 90: 239–42.Google Scholar
62 Page, DC, Mosher, R, Simpson, EM et al. The sex-determining region of the human Y chromosome encodes a finger protein. Cell 1987; 51:1091–104.Google Scholar
63 Page, DC. Is ZFY the sex-determining gene on the human Y chromosome? Philos Trans R Soc Land [Biol] 1988; 322: 155–57.Google Scholar
64 Schneider-Gadicke, A, Beer-Romero, P, Brown, LG, Nussbaum, R, Page, DC. ZFX has a gene structure similar to ZFY, the putative human sex determinant and escapes X inactivation. Cell 1989; 57: 1247–58.Google Scholar
65 Lau, YF, Chan, KM. The putative testis-determining factor and related genes are expressed as discrete-sized transcripts in adult gonadal and somatic tissues. Am J Hum Genet 1989; 45: 942–52.Google Scholar
66 Sinclair, AH, Foster, JW, Spencer, JA et al. Sequences homologous to ZFY, a candidate for the sex-determining gene, are autosomal in marsupials. Nature 1988; 336: 780–83.Google Scholar
67 Koopman, P, Gubbay, J, Collignon, J, Lovell-Badge, R. Zfy gene expression patterns are not compatible with a primary role in mouse sex determination. Nature 1989; 342: 940–42.Google Scholar
68 Palmer, MS, Sinclair, AH, Berta, P et al. Genetic evidence that ZFY is not the testis-determining factor. Nature 1989; 342: 937–39.Google Scholar
69 Arnemann, J, Epplen, JT, Cooke, HJ, Sauermann, U, Engel, W, Schmidtke, J. A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res 1987; 15: 8713–24.Google Scholar
70 Arnemann, J, Jakubiczka, S, Thuring, S, Schmidtke, J. Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY. Genomics 1991; 11: 108–14.Google Scholar
71 Rushton, MA. Hereditary enamel defects. Proc R Soc Med 1964; 57: 5358.Google Scholar
72 Nakahori, Y, Takenaka, O, Nakagome, Y. A human X-Y homologus region encodes ‘amelogenin’. Genomlcs 1991; 9: 264–69.Google Scholar
73 Salido, EC, Yen, PH, Koprivnikar, K, Yu, LC, Shapiro, LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet 1992; 50: 303–16.Google Scholar
74 Su, T-S, Nussbaum, RL, Airhart, S et al. Human chromosome assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet 1984; 36: 954–64.Google Scholar
75 Koenig, M, Moisan, JP, Heilig, R, Mandel, JL. Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. Nucleic Acids Res 1985; 13: 5485–501.Google Scholar
76 Franco, B, Guioli, S, Pragliola, A et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal pathfinding molecules. Nature 1991; 353: 529–36.Google Scholar
77 Legouis, R, Hardelin, J-P, Levilliers, J et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991; 67: 423–35.Google Scholar
78 del Castillo, I, Cohen, SM, Blanchard, S, Lutfalla, G, Petit, C. Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. Nat Genet 1992; 2: 305–10.Google Scholar
79 Incerti, B, Guioli, S, Pragliola, A et al. Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nat Genet 1992; 2: 311–14.Google Scholar
80 Guioli, S, Incerti, B, Zanaria, E et al. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nat Genet 1992; 1: 337–40.Google Scholar
81 Yen, PH, Marsh, B, Allen, E et al. The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 1988; 55: 1123–35.Google Scholar
82 Ma, K, Inglis, JD, Sharkey, A et al. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75: 1287–95.Google Scholar
83 Yen, PH, Ellison, J, Salido, EC, Mohandas, T, Shapiro, L. Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. Hum Mol Genet 1992; 1: 4752.Google Scholar
84 Silver, J, Rabson, A, Bryan, T, Willey, R, Martin, MA. Human retroviral sequences on the Y chromosome. Mol Cell Biol 1987; 7: 1559–62.Google Scholar
85 Goodfellow, PN, Tippett, P. A human quantitative polymorphism related to Xg blood groups. Nature 1981; 289: 404405.Google Scholar
86 Tippett, P, Shaw, MA, Green, CA, Daniels, G. The 12E7 red cell quantitative polymorphism: control by the Y-borne locus, Yg. Ann Hum Genet 1986; 50: 339–47.Google Scholar
87 Goodfellow, PJ, Pritchard, C, Tippett, P, Goodfellow, PN. Recombination between the X and Y chromosomes: implications for the relationship between MIC2, XG and YG. Ann Hum Genet 1987; 51: 161–67.Google Scholar
88 Alvesalo, L, de la Chapelle, A. Permanent tooth sizes in 46, XX males. Ann Hum Genet 1979; 43: 97102.Google Scholar
89 Alvesalo, L, Portin, P. 47, XXY males: sex chromosomes and tooth size. Am J Hum Genet 1980; 32: 955–59.Google Scholar
90 Alvesalo, L, de la Chapelle, A. Tooth sizes in two males with deletions of the long arm of the Y-chromosome. Ann Hum Genet 1981; 54: 4954.Google Scholar
91 Eichwald, EJ, Silmser, CR. Communication. Skin Transplant Bull 1955; 2:148–49.Google Scholar
92 Wachtel, SS, Koo, GC, Breg, WR, Elias, S, Boyse, EA, Miller, OJ. Expression of H-Y antigen in human males with two Y chromosomes. N Engl J Med 1975; 293: 1070–72.Google Scholar
93 Simpson, E, Chandler, P, Goulmy, E, Disteche, CM, Ferguson-Smith, MA, Page, DC. Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome. Nature 1987; 326: 876–88.Google Scholar
94 Wolf, U. Genes of the H-Y antigen system and their expression in mammals. In: Sandberg, AA ed. The Y chromosome: Part A: Basic characteristics of the Y chromosome. New York: Alan R Liss, 1985: 8191.Google Scholar
95 Müller, U, Wachtel, SS. Are testis-secreted H-Y serological antigen and Müllerian inhibiting substance the same? Am J Hum Genet 1991; 49: S22.Google Scholar
96 Lau, Y-F, Chan, K, Sparkes, R. Male-enhanced antigen gene is phylogenetically conserved and expressed at late stages of spermatogenesis. Proc Natl Acad Sci USA 1989; 86: 8462–66.Google Scholar
97 Vergnaud, G, Page, DC, Simmler, M-C et al. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 1986; 38: 109–24.Google Scholar
98 Burgoyne, PS, Levy, ER, McLaren, A. Spermatogenic failure in mice lacking H-Y antigen. Nature 1986; 320: 170–72.Google Scholar
99 Simpson, E, Chandler, P, Goulmy, E, Ma, K, Hargreave, TB, Chandley, AC. Loss of the ‘azoospermia factor’ (AZF) on Yq in man is not associated with loss of HYA. Human Molecular Genetics 1993; 2: 469–71.Google Scholar
100 Tiepolo, L, Zuffardi, O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119–24.Google Scholar
101 Andersson, M, Page, DC, Pettay, D et al. Y; autosome translocation and mosaicism in the aetiology of 45, X maleness: assignment of fertility factor to distal Yq11. Hum Genet 1988; 79: 27.Google Scholar
102 Ma, K, Sharkey, A, Kirsch, S et al. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1992; 1: 2933.Google Scholar
103 Vogt, P, Chandley, AC, Hargreave, TB, Keil, R, Ma, K, Sharkey, A. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet 1992; 89: 491–96.Google Scholar
104 Ogata, T, Matsuo, N. Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). J Med Genet 1992; 29: 539–41.Google Scholar
105 Tanner, JM, Prader, A, Habich, H, Ferguson-Smith, MA. Genes on the Y chromosome influencing rate of maturation in man: skeletal age studies in children with Klinefelter's (XXY) and Turner's (XO) syndromes. Lancet 1959; ii: 141–44.Google Scholar
106 Yamada, K, Ohta, M, Yoshimura, K, Hasekura, H. A possible association of Y chromosome heterochromatin with stature. Hum Genet 1981; 58: 268–70.Google Scholar
107 Borgaonkar, DS, McKusick, VA, Herr, HM, de los Cobos, L, Yoder, OC. Constancy of the length of human Y chromosome. Ann Genet 1969; 12: 262–64.Google Scholar
108 Ferguson-Smith, MA. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 1965; 2: 142–55.Google Scholar
109 Kocova, M, Siegel, SF, Wenger, SL, Lee, PA, Trucco, M. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 1993; 342: 140–43.Google Scholar
110 Medlej, R, Lobaccaro, JM, Berta, P et al. Screening for Y-derived sex determination gene SRY in 40 patients with Turner's syndrome. J Clin Endocrinol Metab 1992; 75: 1289–92.Google Scholar
111 Ballabio, A, Bardoni, B, Carrozzo, R et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989; 86: 1000110005.Google Scholar
112 Ogata, T, Petit, C, Rappold, G, Matsuo, N, Matsumoto, T, Goodfellow, P. Chromosomal localisation of a pseudoautosomal growth gene(s). J Med Genet 1992; 29: 624–28.Google Scholar
113 Mitelman, F, Kaneko, Y, Berger, R. Report of the committee on chromosome changes in neoplasia. Genome Priority Reports 1993; 1: 700–26.Google Scholar
114 Bardy, PG, Lopez, AF, Moore, S, Park, LS, Vadas, MA, Shannon, MF. Human GM-CSF receptor alpha-chain gene is highly polymorphic but not rearranged in AML. Leukemia 1992; 6: 893–97.Google Scholar
115 Page, DC. Hypothesis: a Y-chromosomal gene causes gonadablastoma in dysgenetic gonads. Development 1987; 101 [suppl]: 151–55.Google Scholar
116 De Arce, MA, Costigan, C, Gosden, JR, Lawler, M, Humphries, P. Further evidence consistent with Yqh as an indicator of risk of gonadoblastoma in Y-bearing mosaic Turner syndrome. Clin Genet 1992; 41: 2832.Google Scholar
117 Crow, TJ. Nature of the genetic contribution to psychotic illness—a continuum viewpoint. Acta Psychiatr Scand 1990; 81: 401408.Google Scholar
118 Crow, TJ. The continuum of psychosis and its genetic origins. The sixty-fifth Maudsley lecture. Br J Psychiatry 1990; 156: 788–97.Google Scholar
119 Crow, TJ. Sex chromosomes and psychosis. The case for a pseudoautosomal locus. Br J Psychiatry 1988; 153: 675–83.Google Scholar
120 Asherson, P, Parfitt, E, Sargeant, M et al. No evidence for a pseudoautosomal locus for schizophrenia. Linkage analysis of multiply affected families. Br J Psychiatry 1992; 161: 6368.Google Scholar
121 d'Amato, T, Campion, D, Gorwood, P et al. Evidence for a pseudoautosomal locus for schizophrenia. II: Replication of a non-random segregation of alleles at the DXYS14 locus. Br J Psychiatry 1992; 161: 5962.Google Scholar
122 Wang, ZW, Black, D, Andreasen, N, Crowe, RR. Pseudoautosomal locus for schizophrenia excluded in 12 pedigrees. Arch Gen Psychiatry 1993; 50: 199204.Google Scholar
123 Yoneda, H, Sakai, T, Ishida, T et al. An association between manic-depressive illness and a pseudoautosomal DNA marker [letter]. Am J Hum Genet 1992; 51: 1172–73.Google Scholar
124 Jost, A, Vigier, B, Prepin, J, Perchellet, J. Studies on sex differentiation in Mammals. Ree Prog Horm Res 1973; 29: 141.Google Scholar
125 Davis, RM. Localisation of male-determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet 1981; 18: 161–95.Google Scholar
126 Ferguson-Smith, MA. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 1966; ii: 475–76.Google Scholar
127 Guellaen, G, Casanova, M, Bishop, C et al. Human XX males with Y single-copy DNA fragments. Nature 1984; 307: 172–73.Google Scholar
128 Wachtel, SS. XX sex reversal in the human. In: Wachtel, SS, ed. Molecular genetics of sex determination. San Diego: Academic Press, 1994: 267–85.Google Scholar
129 Miro, R, Caballin, MR, Marsini, S, Egozcue, J. Mosaicism in XX males. Hum Genet 1978; 45: 103106.Google Scholar
130 McElreavey, K, Rappaport, R, Vilain, E et al. A minority of 46, XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet 1992; 90: 121–25.Google Scholar
131 Ferguson-Smith, MA, Cooke, A, Affara, NA, Boyd, E, Tolmie, JL. Genotype-phenotype correlations in XX males and their bearing on current theories of sex determiNatlon. Hum Genet 1990; 84: 198202.Google Scholar
132 Abbas, NE, Toublanc, JE, Boucekkine, C et al. A possible common origin of ‘Y-negative’ human XX males and XX true hermaphrodites. Hum Genet 1990;84: 356–60.Google Scholar
133 Skordis, NA, Stetka, DG, McGillivray, MH, Greenfield, SP. Familial 46, XX males coexisting with familial 46, XX true hermaphrodites in same pedigree. J Pediatr 1987; 100: 244–48.Google Scholar
134 Müller, U, Donlom, T, Schmid, M et al. Deletion mapping of the testis determining locus with DNA probes in 46, XX males and in 46, XY and 46, Xdic(Y) females. Nucleic Acids Res 1986; 14: 6489–505.Google Scholar
135 Affara, NA, Ferguson-Smith, MA, Magenis, RE et al. Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res 1987; 15: 7325–42.Google Scholar
136 Hawkins, JR. Mutational analysis of SRY in XY females. Hum Mut 1993; 2: 347–50.Google Scholar
137 Koopman, P, Gubbay, J, Vivian, N, Goodfellow, P, Lovell-Badge, R. Male development of chromosomally female mice transgenic for Sry. Nature 1991; 351: 117–21.Google Scholar
138 Scherer, G, Schempp, W, Baccichetti, C et al. Duplication of an Xp segment that includes the ZFY locus causes sex inversion in man. Hum Genet 1989; 81: 291–94.Google Scholar
139 Bennett, CP, Docherty, Z, Robb, SA, Ramani, P, Hawkins, JR, Grant, D. Deletion 9p and sex reversal. J Med Genet 1993; 30: 518–20.Google Scholar
140 Tommerup, N, Schempp, W, Meinecke, P et al. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet 1993; 4: 170–74.Google Scholar