Pseudoautosomal regions at the tip of the short and long arms of the human sex chromosomes

Advances in Genome Biology

Volumn 4, Issue C, 1996, Pages 205-228

  Rappold, Gudrun A ^a  

^a NONE

Author keywords

[No Author keywords available]

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EID: 8544227738     PISSN: 10675701     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1067-5701(96)80009-X     Document Type: Article

References (125)

1. Willard H.F., Cremers F., Mandel J.L., Monaco A.P., Nelson D.L., and Schlessinger D. Report of the Fifth International Workshop on Human X Chromosome Mapping. Cytogenet Cell Genet 67 (1994) 295-358
2. Affara N.A., Lau Y.-F.C., Briggs H., Davey P., Jones M.H., Khwaja O., Mitchell M., and Sargent C. Report of the First International Workshop on Y chromosome Mapping, 1994. Cytogenet Cell Genet 67 (1994) 359-402
3. Koller P.C., and Darlington C.D. The genetical and mechanical properties of the sex chromosomes. 1. Rattus norvegicus. J Genet. 29 (1934) 159-173
4. Ohno S. Sex chromosomes and sex-linked genes (1967), Springer Verlag, New York
5. Foote S., Vollrath D., Hilton A., and Page D.C. The human Y chromosome: Overlapping DNA clones spanning the euchromatic region. Science 258 (1992) 60-66
6. Brown C.J., and Willard H.F. Noninactivation of selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect. Am J Hum Genet 45 (1989) 592-598
7. Brown C.J., Lafreniere R.G., Powers V.E., Sebastio G., Ballabio A., Pettigrew A.L., Ledbetter D.H., Levy E., Craig I.W., and Willard H.F. Localization of the X inactivation centre on the human X chromosome in Xq13. Nature 349 (1991) 82-84
8. Graves J.A.M. The evolution of mammalian sex chromosomes and dosage compensation: clue from marsupials and monotremes. Trends in Genet 3 (1987) 252-256
9. Watson J.M., Spencer J.A., Riggs A.D., and Graves J.A.M. The X chromosomes of monotremes shares a highly conserved region with the eutherian and marsupial X chromosomes despite the absence of X chromosome inactivation. Proc Natl Acad Sci USA 87 (1990) 7125-7129
10. Spencer J.A., Sinclair A.H., Watson J.M., and Graves J.A.M. Genes on the short arm of the human X chromosome are not shared with the marsupial X. Genomics 11 (1991) 339-345
11. Yen P.H., Tsai S.-P., Wenger S.L., Steele M.W., Mohandas T.K., and Shapiro L.J. X/Y translocations resulting from recombination between homologous sequences on Xp and Yp. Proc Natl Acad Sci USA 88 (1991) 8944-8948
12. Franco B., Guiloi S., Pragliola A., Incerti B., Bardoni B., Tonlorenzi R., Carrozzo R., Maestrini E., Pieretti M., Taillon-Miller P., Brown C.J., Willard H.F., Lawrence C., Persico M.G., Camerino G., and Ballabio A. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353 (1991) 529-536
13. Legouis R., Hardelin J.-P., Levillier J., Claverie J.-M., Compain S., Wunderle V., Millasseau P., Le Paslier D., Cohen D., and Caterina D. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67 (1991) 423-435
14. Bardoni B., Zuffardi O., Guioli S., Ballabio A., Simi P., Cavalli P., Grimoldi M.G., Fraccaro M., and Camerino G. 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 11 (1991) 443-451
15. del Castillo J., Cohen-Salmon M., Blanchard S., Lutfalla G., and Petit C. Structure of the X-linked Kallmann syndome gene and its homologous pseudogene on the Y chromosome. Nature Genet 2 (1992) 305-310
16. Incerti B., Guioli S., Pragliola A., Zanaria B., Borsani G., Tonlorenzi R., Bardoni B., Franco B., Wheeler D., Ballabio A., and Camerino G. Kallmann syndrome gene on the X and Y chromosomes: Implications for evolutionary divergence of human sex chromosomes. Nature Genet. 2 (1992) 311-314
17. Keitges E., Rivest M., Siniscalco M., and Gartler S.M. X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele. Nature 315 (1985) 226-227
18. Yen P.H., Marsh B., Allen E., Tsai S.P., Ellison J., Connolly L., Neiswanger K., and Shapiro L.J. The human X-linked steroid sulfatase gene and Y-encoded pseudogene: Evidence for an inversion of the Y chromosome during primate evolution. Cell 55 (1988) 1123-1135
19. Klink A., Schiebel K., Winkelmann M., Rao E., Horsthemke B., Lüdecke J.H., Claussen U., Scherer G., and Rappold R.A. The human protein kinase gene PKX1 is a site of aberrant XP/Yp recombination. Hum Mol Genet 4 (1995) 869-878
20. Disteche M.C., Brannan C.J., Larsen A., Adler A., Schorderet D.F., Gearing D., Copeland N.G., Jenkins N.A., and Park L.S. The human pseudoautosomal GM-CSF receptor subunit gene is autosomal in mouse. Nature Genet. 1 (1992) 333-336
21. Milatovich A., Kitamura T., Miyajiama A., and Francke U. Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region. Am J Hum Genet 53 (1993) 1146-1153
22. Toder R., Rappold G., Schiebel K., and Schempp W. ANT3 and STS are autosomal in prosimian lemurs: Implications for the evolution of the pseudoautosomal region. Hum Genet. 95 (1995) 22-28
23. Kvaloy K., Falvagni F., and Brown W.R.A. The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes. Hum Mol Genet. 3 (1994) 771-778
24. Weber B., Weissenbach J., and Schempp W. Conservation of human-derived pseudoautosomal sequences on the sex chromosomes of the great apes. Cytogenet Cell Genet 45 (1987) 26-29
25. Swarbrick P.A., Schmack A.E., and Crawford A.M. MAF45, a highly polymorphic marker for the pseudoautosomal region of the sheep geneme, is not linked to the FecX (Inverdale) gene. Genomics 13 (1992) 849-851
26. Sharp P. Sex chromosome pairing during male meiosis in marsupials. Chromosoma 86 (1982) 27-47
27. Brown W.R.A. A physical map of the human pseudoautosomal region. EMBO J 7 (1988) 2377-2385
28. Petit C., Levilliers J., and Weissenbach J. Physical mapping of the human pseudoautosomal region; comparison with genetic linkage map. EMBO J. 7 (1988) 2369-2376
29. Rappold G.A., and Lehrach H. A long range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere. Nucl Acids Res. 16 (1988) 3361-5377
30. Wapenaar M.C., Petit C., Basler E., Ballabio A., Henke A., Rappold G.A., van Paassen H.M.B., Blonden L.A.J., and van Ommen G.J.B. Physical mapping of 14 new DNA markers isolated from the human distal Xp region. Genomics 13 (1992) 167-175
31. Henke A., Fischer C., and Rappold G.A. Genetic map of the human pseudoautosomal region reveals a high rate of recombination in female meiosis at the Xp telomere. Genomics 18 (1993) 487
32. Slim R., Le Paslier D., Compain S., Levilliers J., Ougen P., Billault A., Donohue S.J., Klein D.C., Mintz L., Bernheim A., Cohen D., Weissabach J., and Petit C. Construction of a yeast artificial chromosome contig spanning the pseudoautosomal region and isolation of 25 new sequence-tagged sites. Genomics 16 (1993) 691-697
33. Ried K., Mertz A., Nagaraja R., Trusnich M., Riley J.H., Anaud R., Lehrach H., Page D., Ellison J.W., and Rappold G. Characterization of a YAC contig spanning the pseudoautosomal region. Genomics 29 (1995) 787-792
34. Holmquist G., Gray M., Porter T., and Jordan J. Characterization of Giemsa dark-and lightband DNA. Cell 31 (1982) 121-129
35. Korenberg J.R., and Rykowski M.C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell 53 (1988) 391-400
36. Bickmore W.A., and Bird A.P. The use of restriction endonucleases to detect and isolate genes from mammalian cells. Methods in Enzymology 216 (1993) 224-244
37. Craig J.M., and Bickmore W.A. The distribution of CpG islands in mammalian chromosomes. Nature Genet. 7 (1994) 376-381
38. Bird A.P. CpG-rich islands and the function of DNA methylation. Nature 321 (1986) 209-213
39. Bird A.P. CpG islands as gene markers in the vertebrate nucleus. Trends in Genet 3 (1987) 342-347
40. Schempp W., and Meer B. Cytologic evidence for three three human X-chromosomal segments escaping inactivation. Hum Genet 63 (1983) 71-174
41. Goodfellow P.J., Darling S.M., Thomas N.S., and Goodfellow P.N. A Pseudoautosomal Gene in Man. Science 234 (1986) 740-743
42. Schiebel K., Weiss B., Wvhrle D., and Rappold G. A human pseudoautosomal gene, ADP/ATP translocase, excapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. Nature Genet. 3 (1993) 82-87
43. Slim R., Levilliers J., decke J.H., Claussen U., Nguyen V.C., Gough N.M., Horsthemke B., et al. A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation. Genomics 16 (1993) 26-33
44. Smith M.J., and Goodfellow P.N. MIC2R: A transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region. Hum Mol Genet. 3 (1994) 1575-1582
45. Ragoussis J., Monaco A., Mockridge I., Kendall E., Duncan Campbell R., and Trowsdale J. Cloning of the HLA class II region in yeast artificial chromosomes. Proc Natl Acad Sci USA 88 (1991) 3753-3757
46. Ellis N.A., Goodfellow P.J., Pym B., Smith M., Palmer M., Frischauf A.-M., and Goodfellow P.N. The pseudoautosomal boundary in man is defined by an Alu repeat sequence on the Y chromosome. Nature 337 (1989) 81-84
47. Ellis N., Yen P., Neiswanger K., Shapiro L.J., and Goodfellow P.N. Evolution of the pseudoautosomal boundary in Old World monkey and great apes. Cell 63 (1990) 977-986
48. Moyzis R.K., Buckingham J.M., Cram L.S., Dani M., Deaven L.L., Jones M.D., Meyne J., Ratliff R.L., and Wu J.-R. A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc Natl Acad Sci. 85 (1988) 6622-6626
49. Cooke H.J., and Smith B.A. Variability at the Telomeres of the Human X/Y pseudoautosomal region. Cold Spring Harb Symp Quant Biol. 51 (1986) 213-219
50. Brown W.R.A., MacKinnon P.J., Vallasante A., Spurr N., Buckle V.J., and Dobson M.J. Structure and polymorphism of human telomere-associated DNA. Cell 63 (1990) 119-132
51. Cross S., Lindsey J., Fantes J., McKay S., McGill N., and Cooke H.J. The structure of a subtelomeric repeated sequence present on many human chromosomes. Nucl Acids Res 18 (1990) 6649-6657
52. Jeffreys A.J., Wilson V., and Thein S.L. Hypervariable "minisatellite" regions in human DNA. Nature 314 (1985) 67-73
53. Steinmetz M., Uematsu Y., and Fischer-Lindahl K. Hotspots of homologous recombination in mammalian genomes. Trends in Genet. 3 (1987) 7-10
54. Chandley A.C., and Mitchell A.R. Hypervariable minisatellite regions are sites for crossingover at meiosis in man. Cytogenet Cell Genet. 48 (1988) 152-155
55. Royle N.J., Clarkson R.E., Wong Z., and Jeffreys A.J. Clustering of hypervariabel minisatellites in the proterminal regions of human autosomes. Genomics 3 (1988) 352-360
56. Page D.C., Bieker K., Brown L.G., Hinton S., Leppert M., Lalouel J.-M., Lathrop M., Nyström-Lahti M., de la Chapelle A., and White R. Linkage, Physical Mapping and DNA Sequence Analysis of Pseudoautosomal Loci on the Human X and Y Chromosomes. Genomics 1 (1987) 243-256
57. Inglehearn C.F., and Cooke H.J. A VNTR immediately adjacent to the human pseudoautosomal telomere. Nucl Acids Res. 18 (1990) 471-476
58. Armour J.A.L., Povey S., Jeremiah S., and Jeffreys A.J. Systematic cloning of human minisatellites from ordered array charomid libraries. Genomics 8 (1990) 501-512
59. Roeder G.S. Chromosome synapsis and genetic recombination. Trends in Genet. 6 (1990) 385-389
60. Laurie D.A., and Hultén M.A. Further studies on chiasma distribution and interference in the human male. Ann Hum Genet. 49 (1985) 203-214
61. Hunt P.A., and LeMaire R. Sex chromosome pairing: Evidence that the behaviour of the pseudoautosomal region differs during male and female meiosis. Am J Hum Genet. 50 (1992) 1162-1170
62. Hultén M. Chiasma distribution at diakinesis in the normal human male. Hereditas 76 (1974) 55-78
63. Solari A.J. Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma 81 (1980) 315-337
64. Keitges E.A., Schorderet D.F., and Gartler S.M. Linkage of the steroid sulfatase to the sexreversed mutation in the mouse. Genetics 116 (1987) 465-468
65. Cooke H.J., Brown R.A., and Rappold G.A. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317 (1985) 687-692
66. Rouyer F., Simmler M.-C., Johnsson C., Vergnaud G., Cooke H.J., and Weissenbach J. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 319 (1986) 291-295
67. Royer F., Simmler M.-C., Vergnaud G., Johnsson C., Levilliers J., Petit C., and Weissenbach J. The pseudoautosomal region of the human sex chromosomes. Cold Spring Harb Symp Quant Biol. (1986) 221-228
68. Rouyer F., de la Chapelle A., Andersson M., and Weissenbach J. An interspersed repeated sequence specific for human subtelomeric regions. EMBO J. (1990) 505-514
69. Freije D., Helms C., Watson M.S., and Donis-Keller H. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science (1992) 1784-1787
70. Chandley A.C., Goetz P., Hargreave T.B., Joseph A.M., and Speed R.M. On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet. 38 (1984) 241-247
71. Speed R.M., and Chandley A.C. Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum Genet. 84 (1990) 547-554
72. Chandley A.C., Hargreave T.B., McBeath S., Mitchell A.R., and Speed R.M. Ring XY bivalent: A new phenomenon at metaphase I of meiosis in man. J Med Genet 24 (1987) 101-106
73. Burgoyne P.S. Genetic homology and crossing over in the X and Y chromosomes of mammals. Human Genet. 61 (1982) 85-90
74. Cattanach B.M., Rasberry C., Burtenshaw M.O., and Evans E.P. Illegitimate pairing of the X and Y chromosomes in Sxr mice. Genet Res. 56 (1990) 121-128
75. * rearrangement. Cytogenet Cell Genet. 57 (1991) 231-239
76. Matsuda Y., Hirobe T., and Chapman V.M. Genetic basis of X-Y chromosome dissociation and male sterility in interspecific hybrids. Proc Natl Acad Sci USA (1991) 4850-4854
77. Matsuda Y., Moens P.B., and Chapman V.M. Deficiency of X and Y chromosomal pairing at meiotic prophase in spermatocytes of sterile interspecific hybrids between laboratory mice (Mus domesticus) and Mus pretus. Chromosoma 101 (1992) 483-492
78. Mohandas T.K., Speed R.M., Passage M.B., Yen P.H., Chandley A.C., and Shapiro L.J. Role of pseudoautosoma region in sex chromosome pairing during male meiosis: Meiotic studies in a man with a deletion on distal Xp. Am J Hum Genet. 51 (1992) 526-533
79. Hassold T.J., Sherman S.L., Pettay D., Page D.C., and Jacobs P.A. XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet. 49 (1991) 253-260
80. Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Griffiths B.L., Smith M.J., Foster J.W., Frischauf A.-M., Lovell-Badge R., and Goodfellow P.N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346 (1990) 240-244
81. Page D.C., de la Chapelle A., and Weissenbach J. Chromosome Y-specific DNA in related human XX males. Nature (1985) 224-226
82. Petit C., de la Chapelle A., Levillier J., Castillo S., Noel B., and Weissenbach J. An abnormal terminal X-Y interchange acouts for most but not all cases of human XX maleness. Cell 49 (1987) 595-602
83. Levilliers J., Quack B., Weissenbach J., and Petit C. Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. Proc Natl Acad Sci USA 86 (1989) 2296-2300
84. NIH/CEPH Collaborative Mapping Group. A comprehensive genetic linkage map of the human genome. Science 258 (1992) 67-76
85. Schmitt K., Lazzeroni L.C., Foote S., Vollrath D., Fisher E.M.C., Goradia T.M., Lange K., Page D.C., and Arnheim N. Multipoint linkage map of the human pseudoautosomal region based on single-sperm typing: Do double crossovers occur during male meiosis?. Am J. Hum. Genet. 55 (1994) 423-430
86. Rappold G.A., Klink A., Weiss B., and Fischer C. Double crossover in the human Xp/Yp pseudoautosomal region and ist bearing on interference. Hum Mol Genet. 3 (1994) 1337-1340
87. Harbers K., Soriano P., Muller U., and Jaenisch R. High frequency of unequal recombination in pseudoatosomal region shown by proviral insertion in transgenic mouse. Nature 324 (1986) 682-685
88. Soriano P., Keitges E.A., Schorderet D.F., Harbers K., Gartler S.M., and Jaenisch R. High rate of recombination and double crossovers in the mouse pseudoautosomal region during male meiosis. Proc Natl Acad Sci USA 84 (1987) 7218-7220
89. Kaback D.B., Guacci V., Barber D., and Hahon J.W. Chromosome size-dependent control of meiotic recombination. Science 256 (1992) 228-231
90. Ponticelli A.S., and Smith G.R. Chromosomal context dependence of a eukaryotic recombination hot spot. Proc Natl Acad Sci USA 89 (1992) 227-231
91. Yen P.H., Allen E., Marsh B., Mohandas T., Wong N., Taggart R.T., and Shapiro L.J. Cloning and expression of steroid sulfatase cDNA and the frequent occurance of deletions in STS deficiency: Implications for X-Y interchange. Cell 49 (1987) 443-454
92. Yen P.H., Ellison J., Salido E.C., Mohandas T., and Shapiro L. Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. Hum Mol Genet. 1 (1992) 47-52
93. Schneider-Gädicke A., Beer-Romero P., Brown L.G., Nussbaum R., and Page D.C. ZFX has a gene structure similar to ZFY, the putative sex determinant, and escapes X-inactivation. Cell 57 (1989) 1247-1258
94. Wu J., Ellison J., Salido E., Yen P., Mohandas T., and Shapiro L.J. Isolation and characterisation of XE169, a novel human gene that escapes X-inactivation. Hum Mol Genet. 3 (1994) 153-160
95. Fisher E.M.C., Beer-Romero P., Brown L.G., Ridley A., McNeil J.A., Bentley L.J., Willard H.F., Bierber F.R., and Page D.C. Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from the X-inactivation and possible implications for Turner Syndrome. Cell 63 (1990) 1205-1218
96. Gough N.M., Gearing D.P., Nicola N.A., Baker E., Pritchard M., Callen D.F., and Sutherland G.R. Localisation of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 345 (1990) 734-736
97. Gough N.M., and Nicola N.A. Granulocyte-macrophage colony stimulating factors. In: Dexter T.M., Garland J.M., and Testa N.G. (Eds). Colony-stimulating factors (1990), Dekker, New York 111-153
98. Rappold G.A., Willson T.A., Henke A., and Gough N.M. Arrangement and localisation of the human GM-CSF receptor gene within the X-Y pseudoautosomal region. Genomics 14 (1992) 455-461
99. Kremer E., Baker E., D'Andrea R.J., Slim R., Phillips H., Moretti P.A., Lopez A.F., Petit C., Vadas M.A., Sutherland G.R., et al. A cytokine receptor gene cluster in the X-Y pseudoautosomal region?. Blood 82 (1993) 22-28
100. Cozens A.L., Runswick M.J., and Walker J.E. DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. J Mol Biol. 206 (1989) 61-280
101. Schiebel K., Mertz A., Winkelmann M., Nagaraja R., and Rappold G. Localization of the adenine nucleotide translocase gene ANT2 to chromosome Xq24-q25 with tight linkage to DXS425. Genomics 24 (1994) 605-606
102. Yi H., Donohue S.J., Klein D.C., and McBride O.W. Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: Implication for mapping of psychiatric disorders. Hum Mol Genet. 2 (1993) 127-131
103. Ellison J.W., Ramos C., Yen P.H., and Shapiro L.J. Structure and expression of the human pseudoautosomal gene XE7. Hum Mol Genet. 9 (1993) 691-696
104. Goodfellow P.J., Pym B., Mohandas T., and Shapiro L.J. The cell surface antigen locus MIC2X escapes X-inactivation. Am J Hum Genet. 36 (1984) 777-782
105. Goodfellow P., Banting G., Sheer D., Ropers H.H., Caine A., Ferguson-Smith M.A., Povey S., and Voss R. Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302 (1983) 346-349
106. Smith M.J., Goodfellow P.J., and Goodfellow P.N. The genomic organisation of the human pseudoautosomal gene MIC2 and the detection of a related locus. Hum Mol Genet. 2 (1993) 417-422
107. Gelin C., Aubrit F., Phalipon A., Raynal B., Cole S., Kaczorek M., and Bernard A. The E2 antigen, a 32 kd glycoprotein involved in T-cell adhesion processes, is the MIC2 gene product. EMBO J. 8 (1989) 3253-3259
108. Kovar H., Dworzak M., Strehl S., Schnell E., Ambros I.M., Ambros P.F., and Gadner H. Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal tumor. Oncogene 5 (1990) 1067-1070
109. Ellis N.A., Tippett P., Petty A., Reid M., Weller P.A., Ye T.Z., German J., Goodfellow P.N., Thomas S., and Banting G. PBDX is the XG blood group gene. Nature Genet. 8 (1994) 285-289
110. Goodfellow P.N., and Tippett P. A human quantitative polymprphism related to Xg blood groups. Nature 289 (1981) 404-405
111. Goodfellow P.J., Pritchard C., Tippett P., and Goodfellow P.N. Recombination between the X and Y chromosomes: Implications for the relationship between MIC2, XG, and YG. Ann Hum Genet 51 (1987) 161-167
112. Ellis N.A., Ye T.-Z., Patton S., German J., Goodfellow P.N., and Weller P.A. Cloning of PBDX, and MIC2- related gene that spans the pseudoautosomal boundary on chromosome Xp. Nature Genet. 6 (1994) 394-400
113. Hamer D.H., Hu S., Magnuson V.L., Hu N., and Pattatucci A.M. A linkage between DNA markers on the X chromosome and male sexual orientation. Science 261 (1993) 321-327
114. Haldane J.B.S. A search for incomplete sex-linkage in man. Ann Eugenet. 7 (1936) 28-57
115. Parsian A., and Todd R.D. Bipolar disorder and the pseudoautosomal region: An association study. Am J Med Genet. 54 (1994) 5-7
116. Crow T.J., Delisi L.E., Lofthouse R., Poulter M., Lehner T., Bass N., Shah T., Walsh C., Boccio-Smith A., Shields G., et al. An examination of linkage of schizophrenia and schizoaffective disorder to the pseudoautosomal region (Xp22.3). Br J Psychiatry 164 (1994) 159-164
117. Ishida T., Yoneda H., Sakai T., Nonomura Y., Inayama Y., Kono Y., and Kobayashi S. Pseudosomal region in schizophrenia: Sex concordance of the affected sibpairs and the association study with DNA markers. Am J Med Genet. 48 (1993) 151-155
118. Wang Z.W., Black D., Andreasen N., and Crowe R.R. Pseudoautosomal locus for schizophrenia excluded in 12 pdigrees. Arch Gen Psychiatry 50 (1993) 199-204
119. Ballabio A., Bardoni B., Carrozzo R., Andria G., Persico G., Bick D., Campbell L., Ropers H.H., Ferguson-Smith M.A., Gimelli G., Fraccaro M., Maraschio P., Zuffardi O., Guioli S., and Camerino G. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosomes. Proc Natl Acad Sci USA 86 (1989) 10001-10005
120. Ogata T., Goodfellow P., Petit C., Aya M., and Matsuo N. Short stature in a girl with a terminal deletion distal to DXYS15: Localisation of a growth gene(s) in the pseudoautosomal region. J Med Genet. 29 (1992) 455-459
121. Ogata T., Petit C., Rappold G., Matsuo N., Matsumoto T., and Goodfellow P. Localisation of a pseudoautosomal growth gene(s). J Med Genet. 29 (1992) 624-628
122. Ullrich O. Über typische Kombinationsbilder multipler Abartung. Kinderheilk 49 (1930) 271-276
123. Turner H.H. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23 (1938) 566-674
124. Ashworth A., Rastan S., Lovell-Badge R., and Kay G. X chromosome inactivation may explain the difference in viability of XO humans and mice. Nature 351 (1991) 405-408
125. Ogata T., Tyler-Smith C., Purvis-Smith S., and Turner G. Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J Med Genet. 30 (1993) 918-922