Preview
Unable to display preview. Download preview PDF.
References
Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, Job J-C, Fellous M (1990) A possible common origin of “Y-negative” human XX males and XX true hermaphrodites. Hum Genet 84:356–360
Affara NA (1991) Sex and the single Y. Bioessays 13:475–478
Affara NA, Ferguson-Smith MA, Tolmie J, Kwok K, Mitchell M, Jamieson D, Cooke A, Florentin L (1986a) Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res 14:5375–5387
Affara NA, Florentin L, Morris N, Kwok K, Mitchell M, Cook A, Jamieson D, Glasgow L, Meredith L, Boyd E, Ferguson-Smith MA (1986b) Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences. Nucleic Acids Res 14:5353–5373
Affara NA, Ferguson-Smith MA, Magenis RE, Tolmie JL, Boyd E, Cooke A, Jamieson D, Kwok K, Mitchell M, Snadden L (1987) 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 15:7325–7342
Affara NA, Chambers D, O'Brien J, Habeebu SSM, Kalaitsidaki M, Bishop CE, Ferguson-Smith MA (1989) Evidence for distinguishable transcripts of the putative testis-determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X, Y and 9. Nucleic Acids Res 17:2987–2999
Alvesalo L, de la Chappelle A (1979) Permanent tooth sizes in 46, XX males. Ann Hum Genet 43:97–102
Alvesalo L, de la Chapelle A (1981) Tooth sizes in two males with deletions of the long arm of the Y-chromosome. Ann Hum Genet 45:49–54
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 233:786–788
Andersson M, Page DC, Pettay D, Subrt I, Turleau C, de Grouchy J, de la Chapelle A (1988) Y; autosome translocations and mosaicism in the aetiology of 45, X maleness: assignment of fertility factor to distal Yq11. Hum Genet 79:2–7
Annerén G, Andersson M, Page DC, Brown LG, Berg M, Läckgren G, Gustavson K-H, de la Chapelle A (1987) An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction. Am J Hum Genet 41:594–604
Arnemann J, Epplen JT, Cooke HJ, Sauermann U, Engel W, Schmidtke J (1987) A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res 15:8713–8724
Arnemann J, Jakubiczka S, Thüring S, Schmidtke J (1991) Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY. Genomics 11:108–114
Arrighi FE, Hsu TC (1971) Localization of heterochromatin in human chromosomes. Cytogenetics 10:81–86
Arveiler B, Vincent A, Mangel J-L (1989) Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region. Genomics 4:460–471
Ashworth A, Rastan S, Lovell-Badge R, Kay G (1991) X-chromosome inactivation may explain the difference in viability of X0 humans and mice. Nature 351:406–408
Ballabio A, Carrozzo G, 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 Yp. Ann Hum Genet 53:9–14
Bardoni B, Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G (1991) 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 11:443–451
Beaudet AL, Su TS, O'Brien WE (1982) Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome. Cell 30:287–293
Beçak W, Beçak ML, Nazareth HRS, Ohno S (1964) Close karyological kinship between the reptilian suborder Serpentes and the class Aves. Chromosoma 15:606–617
Berkovitz GD, Fechner PY, Marcantonio SM, Bland G, Stetten G, Goodfellow PN, Smith KD, Migeon JC (1992) The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46, XX true hermaphroditism. Hum Genet 88:411–416
Bernstein R, Jenkins T, Dawson B, Wagner J, Dewald G, Koo GC, Wachtel SS (1980) Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. J Med Genet 17:291–300
Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M (1990) Genetic evidence equating SRY and the testis-determining factor. Nature 348:448–450
Bickmore WA, Cooke HJ (1987) Evolution of homologous sequences of the human X and Y chromosomes, outside of the meiotic pairing segment. Nucleic Acids Res 15:6261–6271
Billingham RE, Silvers WK (1960) Studies on tolerance of the Y chromosome antigen in mice. J Immunol 85:14–26
Blagowidow N, Page DC, Huff D, Mennuti MT (1989) Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome. Am J Med Genet 34:159–162
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 10:190–198
Borgaonkar DS, Hollander DH (1971) Quinacrine fluorescence of the human Y chromosome. Nature 230:52
Bostock CJ, Gosden JR, Mitchell AR (1978) Localisation of a male-specific DNA fragment to a sub-region of the human Y chromosome. Nature 272:324–328
Brøndum Nielsen K, Schwartz M, Sardemann H (1988) Investigation of three XX males by cytogenetic and DNA analyses. Hum Genet 78:179–182
Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF (1991a) A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38–44
Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF (1991b) Localization of the X inactivation centre on the human X chromosome in Xq13. Nature 349:82–84
Brown WRA (1988) A physical map of the human pseudoautosomal region. EMBO J 7:2377–2385
Buckle V, Mondello C, Darling S, Craig IW, Goodfellow PN (1985) Homologous expressed genes in the human sex chromosome pairing region. Nature 317:739–741
Buckle VJ, Boyd Y, Fraser N, Goodfellow PN, Goodfellow PJ, Wolfe J, Craig IW (1987) Localisation of Y chromosome sequences in normal and ‘XX’ males. J Med Genet 24:197–203
Burgoyne PS (1982) Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum Genet 61:85–90
Burgoyne PS (1989) Thumbs down for zinc finger? Nature 342:860–862
Burgoyne PS, Levy ER, McLaren A (1986) Spermatogenic failure in male mice lacking H–Y antigen. Nature 320:170–172
Burk RD, Szabo P, O'Brien S, Nash WG, Yu L, Smith KD (1985) Organization and chromosomal specificity of autosomal homologs of human Y chromosome repeated DNA. Chromosoma 92:225–233
Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC, Saal HM, Zinn AB, Disteche CM (1989) Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe. Hum Genet 83:88–92
Cantrell MA, Bogan JS, Simpson E, Bicknell JN, Goulmy E et al. (1992) Deletion mapping of H–Y antigen to the long arm of the human Y chromosome. Genomics 13:1255–1260
Carritt B, Povey S (1979) Regional assignments of the loci AK3, ACONS, and ASS on human chromosome 9. Cytogenet Cell Genet 23:171–181
Chakraborty T, Olson EN (1991) Domains outside of the DNA-binding domain impart target gene specificity to myogenin and MRF4. Mol Cell Biol 11:6103–6108
Chandley AC, 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 38:241–247
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 73:350–353
Chandley AC, Gosden JR, Hargreave TB, Spowart G, Speed RM, McBeath S (1989) Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). J Med Genet 26:145–153
Cohen MM, Shaw MW, MacCluer JW (1966) Racial differences in the length of the human Y chromosome. Cytogenetics 5:34–52
Cooke HJ (1976) Repeated sequence specific to human males. Nature 262:182–186
Cooke HJ, Schmidtke J, Gosden JR (1982) Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates. Chromosoma 87:491–502
Cooke HJ, Fantes J, Green D (1983) Structure and evolution of human Y chromosome DNA. Differentiation 23:S48–S55
Cooke HJ, Brown WAR, Rappold GA (1984) Closely related sequences on human X and Y chromosomes outside the pairing region. Nature 311:259–261
Cooke HJ, Brown WRA, Rappold GA (1985) Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317:687–692
Dagna Bricarelli F, Fraccaro M, Lindsten J, Müller U, Baggio P, Doria Lamba Carbone L, Hjerpe A, Lindgren F, Mayerová A, Ringertz H, Ritzén EM, Rovetta DC, Sicchero C, Wolf U (1981) Sex-reversed XY females with campomelic dysplasia are H–Y negative. Hum Genet 57:15–22
Daiger SP, Wildin RS, Su TS (1982) Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Nature 298:682–684
Damiani D, Billerbeck AEC, Goldberg ACK, Setian N, Fellous M, Kalil J (1990) Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. Hum Genet 85:85–88
Darling SM, Banting GS, Pym B, Wolfe J, Goodfellow PN (1986) Cloning an expressed gene shared by the human sex chromosomes. Proc Natl Acad Sci USA 83:135–139
Davies KE, Mandel JL, Weissenbach J, Fellous M (1987) Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet 46:277–315
Davis RM (1981) Localisation of male-determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet 18:161–195
De Arce MA, Costigan C, Gosden JR, Lawler M, Humphries P (1992) Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome. Clin Genet 41:28–32
de la Chapelle A (1972) Nature and origin of males with XX sex chromosomes. Am J Hum Genet 24:71–105
de la Chapelle A, Alvesalo L (1979) Mapping of the growth promoting gene(s) on the human Y chromosome. Cytogenet Cell Genet 25:146–147
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 74:372–377
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 83:7841–7844
Eichwald EJ, Silmser CR (1955) Communication. Transplant Bull 2:148–149
Ellis NA, Goodfellow PN (1989) The mammalian pseudoautosomal region. Trends Genet 5:406–410
Ellis NA, Goodfellow PJ, Pym B, Smith M, Palmer M, Frischauf A-M, Goodfellow PN (1989) The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature 337:81–84
Ellis NA, Taylor A, Bengtsson BO, Kidd J, Rogers J, Goodfellow P (1990a) Population structure of the human peusodoautosomal boundary. Nature 344:663–665
Ellis NA, Yen P, Neiswanger K, Shapiro LJ, Goodfellow PN (1990b) Evolution of the pseudoautosomal boundary in old world monkeys and great apes. Cell 63:977–986
Evans HJ, Buckton KE, Spowart G, Carothers AD (1979) Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X–Y interchange. Hum Genet 49:11–31
Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2:142–155
Ferguson-Smith MA (1966) X–Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet II:475–476
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 [Suppl]:41–50
Ferguson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JL (1990) Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet 84:198–202
Fisher EMC, Alitalo T, Luoh S-W, de la Chapelle A, Page DC (1990a) Human sex-chromosome-specific repeats within a region of peusodoautosomal/Yq homology. Genomics 7:625–628
Fisher EMC, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Bentley Lawrence J, 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 63:1205–1218
Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH (1959) A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet I:711–713
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B et al. (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529–536
Fraser N, Ballabio A, Zollo M, Persico G, Craig I (1987) Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral peusodoautosomal gene? Development 101 [Suppl]:127–132
Freytag SO, Bock H-GO, Beaudet AL, O'Brien WE (1984) Molecular structures of human argininosuccinate synthetase pseudogenes. J Biol Chem 259:3160–3166
Frommer M, Prosser J, Vincent PC (1984) Human satellite I sequences include a male-specific 2.47-kb tandemly repeated unit containing one Alu family member per repeat. Nucleic Acids Res 12:2887–2900
Gearing DP, King JA, Gouth NM, Nicola NA (1989) Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor. EMBO J 8:3667–3676
Geldwerth D, Bishop C, Guellaen G, Koenig M, Vergnaud G, Mandel J-L, Weissenbach J (1985) Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J 4:1739–1743
Geller RL, Shapiro LJ, Mohandas TK (1986) Fine mapping of the distal short arm of the human X chromosome using X/Y translocations. Am J Hum Genet 38:884–890
Giese K, Amsterdam A, Grosschedl R (1991) DNA-binding properties of the HMG domain of the lymphoid-specific transcriptional regulator LEF-1. Genes Dev 5:2567–2578
Goldberg EH (1988) H-Y antigen and sex determination. Philos Trans R Soc Lond [Biol] 322:73–81
Goldberg EH, Boyse EA, Bennett D, Scheid M, Carswell EA (1971) Serological demonstration of H-Y (male) antigen on mouse sperm. Nature 232:478–480
Goldberg EH, Shen F-W, Tokuda S (1973) Detection of H-Y (male) antigen on mouse lymph node cells by the cell-to-cell cytotoxicity test. Transplantation 15:334–336
Goodfellow P (1983) Expression of the 12E7 antigen is controlled independently by genes on the human X and Y chromosomes. Differentiation 23:S35–S39
Goodfellow P, Banting G, Sheer D, Ropers HH, Caine A, Ferguson-Smith MA, Povey S, Voss R (1983) Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302:346–349
Goodfellow P, Darling S, Wolfe J (1985a) The human Y chromosome. J Med Genet 22:329–344
Goodfellow PN, Davies KE, Ropers HH (1985b) Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet 40:296–352
Goodfellow PJ, Darling SM, Thomas NS, Goodfellow PN (1986) A peusodoautosomal gene in man. Science 234:740–743
Goodfellow PN, Craig IW, Smith JC, Wolfe J (eds) (1987a) The mammalian Y chromosome: molecular search for the sex-determining factor. Development 101 [Suppl]:1–203
Goodfellow PJ, Darling S, Banting G, Pym B, Mondello C, Goodfellow PN (1987b) Pseudoautosomal genes in man. Development 101 [Suppl]:119–125
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 peusodoautosomal region. Nature 345:734–736
Graves JAM, Watson JM (1991) Mammalian sex chromosomes: evolution of organisation and function. Chromosoma 101:63–68
Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Münsterberg A, Vivian N, Goodfellow P, Lovell-Badge R (1990) A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245–250
Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M, Weissenbach J (1984) Human XX males with Y single-copy DNA fragments. Nature 307:172–173
Hanauer A, Levin M, Heilig R, Daegelen D, Kahn A, Mandel JL (1983) Isolation and characterization of cDNA clones for human skeletal muscle α actin. Nucleic Acids Res 11:3503–3516
Harbers K, Soriano P, Müller U, Jaenisch R (1986) High frequency of unequal recombination in peusodoautosomal region shown by proviral insertion in transgenic mouse. Nature 324:682–685
Harley VR, Jackson DJ, Hextall PJ, Hawkins JR, Berkovitz GD, Sockanathan S, Lovell-Badge R, Goodfellow PN (1992) DNA-binding activity of recombinant SRY from normal males and XY females. Science 255:453–456
Hartung M, Devictor M, Codaccioni JL, Stahl A (1988) Yq deletion and failure of spermatogenesis. Ann Genet 31:21–26
Hassold TJ (1986) Chromosome abnormalities in human reproductive wastage. Trends Genet 2:105–110
Hawkins JR, Taylor A, Berta P, Levilliers J, Auwera B van der, Goodfellow PN (1992) Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 88:471–474
Hayman DL, Martin PG (1974) Mammalia I: monotremata and marsupialia. Chordata 4. In: John B (ed) Animal Cytogenetics. Borntraeger, Berlin
Heilig R, Hanauer A, Grzeschik KH, Hors-Cayla MC, Mandel JL (1984) Actin-like sequences are present on human X and Y chromosomes. EMBO J 8:1803–1807
Hemel JO van, Eussen B, Wesby-van Swaay E, Oostra BA (1992) Molecular detection of a translocation (Y;11)(q11.2;q24) in a newborn with signs of Jacobsen syndrome. Hum Genet 88:661–667
Henke A, Wapenaar M, Ommen G-J van, Maraschio P, Camerino G, Rappold G (1991) Deletions within the peusodoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet 49:811–819
HGM1 (1974) Human Gene Mapping 1. New Haven Conference (1973). Cytogenet Cell Genet 13:1–216
HGM2 (1975) Human Gene Mapping 2. Rotterdam Conference (1974). Cytogenet Cell Genet 14:161–480
HGM3 (1976) Human Gene Mapping 3. Baltimore Conference (1975). Cytogenet Cell Genet 16:1–452
HGM9 (1987) Human Gene Mapping 9. Paris Conference (1987). Cytogenet Cell Genet 46:1–762
HGM10 (1989) Human Gene Mapping 10. New Haven Conference (1989). Cytogenet Cell Genet 51:1–1147
HGM11 (1991) Human Gene Mapping 11. London Conference (1991). Cytogenet Cell Genet 58:1–2197
Hodgkin J (1990) Sex determination compared in Drosophila and Caenorhabditis. Nature 344:721–728
Hultén M (1974) Chiasma distribution at diakinesis in the normal human male. Hereditas 76:55–78
Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sexdetermining mechanism. Nature 183:302–303
Jäger RJ, Anvret M, Hall K, Scherer G (1990a) A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348:452–454
Jäger RJ, Ebensperger C, Fraccaro M, Scherer G (1990b) A ZFY-negative 46,XX true hermaphrodite is positive for the Y peusodoautosomal boundary. Hum Genet 85:666–668
Jäger RJ, Pfeiffer RA, Scherer G (1991) A familial amino acid substitution in SRY can lead to conditional XY sex inversion. Am J Hum Genet 49:S219
Jantzen H-M, Admon A, Bell SP, Tjian R (1990) Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins. Nature 344:830–836
Johnson CL, Charmley P, Yen PH, Shapiro LJ (1991) A multipoint linkage map of the distal short arm of the human X chromosome. Am J Hum Genet 49:261–266
Jones KW, Singh L (1985) Snakes and the evolution of sex chromosomes. Trends Genet 1:55–61
Just W, Geerkens C, Held KR, Vogel W (1992) Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet 89:240–242
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 E1. Nature 354:486–489
Keitges E, Rivest M, Siniscalco M, Gartler SM (1985) X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele. Nature 315:226–227
Keitges EA, Schorderet DF, Gartler SM (1987) Linkage of the steroid sulfatase gene to the sex-reversed mutation in the mouse. Genetics 116:465–468
Kelly TE, Wachtel SS, Cahill L, Barnabei VM, Willson-Suddath K, Wyandt HE (1984) X;Y translocation in a female with streak gonads, H-Y phenotype, and some features of Turner's syndrome. Cytogenet Cell Genet 38:122–126
Koenig M, Moisan JP, Heilig R, Mandel JL (1985) Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. Nucleic Acids Res 13:5485–5501
Koller PC, Darlington CD (1934) The genetical and mechanical properties of the sex chromosomes: 1. Rattus norvegicus. J Genet 29:159–173
Koopman P, Gubbay J, Collignon J, Lovell-Badge R (1989) Zfy gene expression patterns are not compatible with a primary role in mouse sex determination. Nature 342:940–942
Koopman P, Münsterberg A, Capel B, Vivian N, Lovell-Badge R (1990) Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348:450–452
Koopman P, Ashworth A, Lovell-Badge R (1991a) The ZFY gene family in humans and mice. Trends Genet 4:132–136
Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R (1991b) Male development of chromosomally female mice transgenic for Sry. Nature 351:117–121
Kunkel LM, Tantravahi U, Kurnit DM, Eisenhard M, Bruns GP, Latt SA (1983) Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res 11:7961–7979
Lau EC, Mohandas TK, Shapiro LJ, Slavkin HC, Snead ML (1989a) Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics 4:162–168
Lau Y-F (1985) Organization of the human Y-specific HaeIII 3.4-kb repeat sequences and their application in clinical diagnosis. In: Sandberg AA (ed) The Y chromosome: A. Basic characteristics of the Y chromosome. Liss, New York, pp 177–192
Lau Y-F, 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 45:942–952
Lau Y-F, Chan K, Sparkes R (1989b) Male-enhanced antigen gene is phylogenetically conserved and expressed at late stages of spermatogenesis. Proc Natl Acad Sci USA 86:8462–8466
Legouis R, Hardelin J-P, Levillier J, Claverie J-M, Compain S et al. (1991). The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67:423–435
Levilliers J, Quack B, Weissenbach J, Petit C (1989) Exchange of terminal portions of X-and Y-chromosomal short arms in human XY females. Proc Natl Acad Sci USA 86:2296–2300
Levy R, Dilley J, Fox RI, Warnke R (1979) A human thymus-leukemia antigen defined by hybridoma monoclonal antibodies. Proc Natl Acad Sci USA 76:6552–6556
Lovell-Badge R, Robertson E (1990) XY-female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy. Development 109:635–646
Magenis RE, Tochen ML, Holahan KP, Carey T, Allen L, Brown MG (1984a) Turner syndrome resulting from partial deletion of Y chromosome short am: localization of male determinants. J Pediatr 105:916–919
Magenis RE, Tomar D, Sheehy R, Fellous M, Bishop C, Casanova M (1984b) Y short arm material translocated to distal X short arm in XX males: evidence from in situ hybridisation of a Y-specific single-copy DNA probe. Am J Hum Genet 36:102S
Magenis RE, Casanova M, Fellous M, Olson S, Sheehy R (1987) Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet 75:228–233
Mardon G, Mosher R, Disteche CM, Nishioka Y, McLaren A, Page DC (1989) Duplication, deletion, and polymorphism in the sex-determining region of the mouse Y chromosome. Science 243:78–80
Maserati E, Waibel F, Weber B, Fraccaro M, Gal A, Pasquali F, Schempp W, Scherer G, Vaccaro R, Weissenbach J, Wolf U (1986) A 45,X male with a Yp/18 translocation. Hum Genet 74:126–132
McAlpine PJ, Shows TB, Miller RL, Pakstis AJ (1985) The 1985 catalog of mapped genes and report of the nomenclature committee. Cytogenet Cell Genet 40:8–66
McAlpine PJ, Boucheix C, Pakstis AJ, Stranc LC, Berent TG, Shows TB (1988) The 1988 catalog of mapped genes and report of the nomenclature committee. Cytogenet Cell Genet 49:4–38
McElreavey KD, Vilain E, Boucekinne C, Vidaud M, Jaubert F, Richaud F, Fellous M (1992) XY sex reversal associated with a nonsense mutation in SRY. Genomics 13:838–840
McKay RDG, Heritage J, Bobrow M, Cooke HJ (1978) Endonuclease analysis of Y chromosome DNA. Cytogenet Cell Genet 22:357–358
McLaren A (1985) Relation of germ cell sex to gonadal differentiation. In: Halvorson HO, Monroy A (eds) The origin and evolution of sex, vol 7. Liss, New York, pp 289–300
McLaren A, Ferguson-Smith MA (eds) (1988) Sex determination in mouse and man. Philos Trans R Soc Lond [Biol] 322:1–157
McLaren A, Simpson E, Tomonari K, Chandler P, Hogg H (1984) Male sexual differentiation in mice lacking H-Y antigen. Nature 312:552–555
Migeon BR, Shapiro LJ, Norum RA, Mohandas T, Axelman J, Dabora RL (1982) Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature 299:838–840
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 E1. Nature 354:483–486
Mittwoch U (1992) Sex determination and sex reversal: genotype, phenotype, dogma and semantics. Hum Genet 89:467–479
Morton NE (1991) Parameters of the human genome. Proc Natl Acad Sci USA 88:7474–7476
Müller G, Schempp W (1989) Mapping the human ZFX locus to Xp21.3 by in situ hybridization. Hum Genet 82:82–84
Müller G, Schempp W (1991) Comparative mapping of ZFY in the hominoid apes. Hum Genet 88:59–63
Müller U (1987) Mapping of testis-determining locus on Yp by the molecular genetic analysis of XX males and XY females. Development 101 [Suppl]: 51–58
Müller U, Urban E (1981) Reaggregation of rat gonadal cells in vitro: experiments on the function of H-Y antigen. Cytogenet Cell Genet 31:104–107
Müller U, Donlon T, Schmid M, Fitch N, Richer C-L, Lalande M, Latt SA (1986a) Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res 14:6489–6505
Müller U, Lalande M, Donlon T, Latt SA (1986b) Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number an XY female. Nucleic Acids Res 14:1325–1340
Müller U, Latt SA, Donlon T (1987) Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes. Am J Med Genet 28:393–401
Müller U, Wachtel SS (1991) Are testis-secreted H-Y serological antigen and Müllerian inhibiting substance the same? Am J Hum Genet 49:S 22
Nagamine CM, Chan K, Kozak CA, Lau Y-F (1989) Chromosome mapping and expression of a putative testis-determining gene in mouse. Science 243:80–83
Nakagome Y, Seki S, Fukutani K, Nagafuchi S, Nakahori Y, Tamura T (1991) PCR detection of distal Yp sequences in an XX true hermaphrodite. Am J Med Genet 41:112–114
Nakahori Y, Nakagome Y (1989) Conserved Xp-Yp homologous region which encodes open reading frames corresponding to “amelogenin”. Cytogenet Cell Genet 51:1050
Nakahori Y, Mitani K, Yamada M, Nakagome Y (1986) A human Y-chromosome-specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides. Nucleic Acids Res 14:7569–7580
Nakahori Y, Takenaka O, Nakagome Y (1991a) A human X-Y homologous region encodes “amelogenin”. Genomics 9:264–269
Nakahori Y, Tamura T, Nagafuchi S, Fujieda K, Minowada et al. (1991b) Molecular cloning and mapping of 10 new probes on the human Y chromosome. Genomics 9:765–769
Nasrin N, Buggs C, Kong XF, Carnazza J, Goebl M, Alexander-Bridges M (1991) DNA-binding properties of the product of the testis determining gene and a related protein. Nature 354:317–320
Nomiyama H, Obaru K, Jinno Y, Matsuda I, Shimada K, Miyata T (1986) Amplification of human argininosuccinate synthetase pseudogenes. J Mol Biol 192:221–233
Oakey R, Tyler-Smith C (1990) Y chromosome DNA haplotyping suggests that most European and Asian men are descended from one of two males. Genomics 7:325–330
O'Brien SJ, Graves JAM (1991) Report of the committee on comparative gene mapping. Cytogenet Cell Genet 58:1124–1151
Ohno S (1967) Sex chromosomes and sex-linked genes. Springer, Berlin Heidelberg New York
Ohno S (1976) Major regulatory genes for mammalian sexual development. Cell 7:315–321
Ohno S (1979) Major sex-determining genes. Springer, Berlin Heidelberg New York
Ohno S, Beçak W, Beçak ML (1964) X-autosome ratio and the behavior pattern of individual X chromosomes in placental mammals. Chromosoma 15:14–30
Olmo E, Cobror O, Morescalchi A, Odierna G (1984) Homomorphic sex chromosomes in the lacertid lizard Takydromus sexlineatus. Heredity (Edinburgh) 53:457–459
Ostrer H, Wright G, Clayton CM, Skordis NA, MacGillivray MH (1989) Familial XX chromosomal maleness does not arise from a Y-chromosomal translocation. J Pediatr 114:977–982
Page DC (1987) Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101 [Suppl]:151–155
Page DC (1988) Is ZFY the sex-determining gene on the human Y chromosome? Philos Trans R Soc Lond [Biol] 322:155–157
Page DC, Martinville B de, Barker D, Wyman A, White R, Francke U, Botstein D (1982) Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci USA 79:5352–5356
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 311:119–123
Page DC, de la Chapelle A, Weissenbach J (1985) Chromosome Y-specific DNA in related human XX males. Nature 315:224–226
Page DC, Bieker K, Brown LG, Hinton S, Leppert M, Lalouel J-M, Lathrop M, Nystrom-Lahti, M, de la Chapelle A, White R (1987a) Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics 1:243–256
Page DC, Brown LG, de la Chapelle A (1987b) Exchange of terminal portions of X-and Y-chromosomal short arms in human XX males. Nature 328:437–440
Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollak J, McGillivray B, de la Chapelle A, Brown LG (1987c) The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51:1091–1104
Page DC, Disteche CM, Simpson EM, de la Chapelle A, Andersson M, Alitalo T, Brown LG, Green P, Akots G (1990a) Chromosomal localization of ZFX — a human gene that escapes X inactivation — and its murine homologs. Genomics 7:37–46
Page DC, Fisher EMC, McGillivray B, Brown LG (1990b) Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature 346:279–281
Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas NE, Fellous M (1989) Genetic evidence that ZFY is not the testis-determining factor. Nature 342:937–939
Palmer MS, Berta P, Sinclair AH, Pym B, Goodfellow PN (1990) Comparison of human ZFY and ZFX transcripts. Proc Natl Acad Sci USA 87:1681–1685
Pedicini A, Camerino G, Avarello R, Guioli S, Zuffardi O (1991) Probe St35-239 (DXYS64) reveals homology between the distal ends of Xq and Yq. Genomics 11:482–483
Petit C, de la Chapelle A, Levilliers J, Castillo S, Noël B, Weissenbach J (1987) An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness. Cell 49:595–602
Petit C, Levilliers J, Weissenbach J (1988) Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map. EMBO J 7:2369–2376
Petit C, Levilliers J, Rouyer F, Simmler MC, Herouin E, Weissenbach J (1990) Isolation of sequences from Xp22.3 and deletion mapping using sex chromosome rearrangements from human X-Y interchange sex reversals. Genomics 6:651–658
Ramsay M, Bernstein R, Zwane E, Page DC, Jenkins T (1988) XX true hermaphroditism in Southern African blacks: an enigma of primary sexual differentiation. Am J Hum Genet 43:4–13
Rappold GA, Lehrach H (1988) A long-range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere. Nucleic Acids Res 12:5361–5377
Rappold GA, Henke A, Klink A, Horsthemke B, Wapenaar M, Armour J, Gough N (1991) Patients with deletions within the pseudoautosomal region help map 13 new pseudoautosomal probes. Cytogenet Cell Genet 58:2083
Ray-Chaudhuri SP, Singh L, Sharma T (1970) Sexual dimorphism in somatic interphase nuclei of snakes. Cytogenetics 9:410–423
Ray-Chaudhuri SP, Singh L, Sharma T (1971) Evolution of sex-chromosomes and formation of W-chromatin in snakes. Chromosoma 33:239–251
Roberts L (1988) Zeroing in on the sex switch. Science 239:21–23
Rofe R, Hayman D (1985) G-banding evidence for a conserved complement in the Marsupialia. Cytogenet Cell Genet 39:40–50
Rosenfeld RG, Luzzati 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 31:458–468
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 319:291–295
Rouyer F, Simmler M-C, Page DC, Weissenbach J (1987) A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell 51:417–425
Rouyer F, de la Chapelle A, Andersson M, Weissenbach J (1990) An interspersed repeated sequence specific for human subtelomeric regions. EMBO J 9:505–514
Salido EC, Yen PH, Koprivnikar K, Yu L-C, Shapiro LJ (1992) The human enamel protein gene amelogenin is expressed from both the X and Y chromosomes. Am J Hum Genet 50:303–316
Sandberg AA (ed) (1985) The Y chromosome, parts A, B. Liss, New York
Schempp W, Meer B (1983) Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum Genet 63:171–174
Schempp W, Schmid M (1981) Chromosome banding in Amphibia VI. Chromosoma 83:697–710
Schempp W, Toder R (1992) Molecular cytogenetic studies on the evolution of sex chromosomes in primates. In: Graves JAM, Reed K (eds) Proceedings of the 1992 Boden research conference: mammalian sex chromosomes and sex-determining genes: their differentiation, autonomy and interactions in gonad differentiation and function. Harwood, New York, (in press)
Schempp W, Weber B, Serra A, Negri G, Gal A, Wolf U (1985) A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15. Hum Genet 71:150–154
Schempp W, Müller G, Scherer G, Bohlander SK, Rommerskirch W, Fraccaro M, Wolf U (1989a) Localization of Y chromosome sequences and X chromosomal replication studies in XX males. Hum Genet 81:144–148
Schempp W, Weber B, Müller G (1989b) Mammalian sex-chromosome evolution: a conserved homologous segment on the X and Y chromosomes in primates. Cytogenet Cell Genet 50:201–205
Scherer G, Schempp W, Baccichetti C, Lenzini E, Dagna Bricarelli F, Doria Lamba Carbone L, Wolf U (1989a) Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum Genet 81:291–294
Scherer G, Schempp W, Fraccaro M, Bausch E, Bigozzi V, Maraschio P, Montali E, Simoni G, Wolf U (1989b) Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction. Hum Genet 81:247–251
Schmeckpeper BJ, Willard HF, Smith KD (1981) Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome. Nucleic Acids Res 8:1853–1872
Schmid M, Guttenbach M, Nanda I, Studer R, Epplen JT (1990) Organization of DYZ2 repetitive DNA on the human Y chromosome. Genomics 6:212–218
Schneider-Gädicke A, Beer-Romero P, Brown LG, Mardon G, Luoh S-W, Page DC (1989a) Putative transcription activator with alternative isoforms encoded by human ZFX gene. Nature 342:708–711
Schneider-Gädicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC (1989b) ZFX has a gene structure similar to ZFY, the putative human sex determinant, und escapes X inactivation. Cell 57:1247–1258
Schwarzacher-Robinson T, Cram LS, Meyne J, Moyzis RK (1988) Characterization of human heterochromatin by in situ hybridization with satellite DNA clones. Cytogenet Cell Genet 47:192–196
Shapiro LJ (1985) Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. In: Harris H, Hirschhorn K (eds) Advances in human genetics. Plenum, New York, pp 331–381
Shapiro LJ, Mohandas T, Weiss R, Romeo G (1979) Non-inactivation of an X-chromosome locus in man. Science 204:1224–1226
Shows TB, McAlpine PJ (1982) The 1981 catalogue of assigned human genetic markers and report of the nomenclature committee. Cytogenet Cell Genet 32:221–245
Silver J, Rabson A, Bryan T, Willey R, Martin MA (1987) Human retroviral sequences on the Y chromosome. Mol Cell Biol 7:1559–1562
Silvers WK, Gasser DL, Eicher EM (1982) H-Y antigen, serologically detectable male antigen and sex determination. Cell 28:439–440
Simmler M-C, Rouyer F, Vergnaud G, Nyström-Lahti M, Ngo KY, de la Chapelle A, Weissenbach J (1985) Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 317:692–697
Simpson E, Chandler P, Goulmy E, Disteche CM, Ferguson-Smith MA, Page DC (1987) Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome. Nature 326:876–878
Simpson JL (1976) Disorders of sexual differentiation. Etiology and clinical delineation. Academic Press, New York
Simpson JL, Blagowidow N, Martin AO (1981) XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis. Hum Genet 58:91–97
Sinclair AH, Foster JW, Spencer JA, Page DC, Palmer M, Goodfellow PN, Graves JAM (1988) Sequences homologous to ZFY, a candidate human sex-determining gene, are autosomal in marsupials. Nature 336:780–783
Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf A-M, 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 346:240–244
Singh L, Purdom IF, Jones KW (1976) Satellite DNA and evolution of sex chromosomes. Chromosoma 59:43–62
Singh L, Purdom IF, Jones KW (1979) Behaviour of sex chromosome-associated satellite DNAs in somatic and germ cells in snakes. Chromosoma 71:167–181
Singh L, Purdom IF, Jones KW (1980) Sex chromosome-associated satellite DNA: evolution and conversation. Chromosoma 79:137–157
Skordis NA, Stetka DG, McGillivray MH, Greenfield SP (1987) Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree. J Pediatr 100:244–248
Smith KD, Young KE, Talbot CC Jr, Schmeckpeper BJ (1987) Repeated DNA of the human Y chromosome. Development 100 [Suppl]:77–92
Solari AJ (1980) Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma 81:315–337
Soriano P, Keitges EA, Schorderet DF, Harbers K, Gartler SM, Jaenisch R (1987) High rate of recombination and double crossovers in the mouse pseudoautosomal region during male meiosis. Proc Natl Acad Sci USA 84:7218–7220
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 84:547–554
Spencer JA, Sinclair AH, Watson JM, Graves JAM (1991) Genes on the short arm of the human X chromosome are not shared with the marsupial X. Genomics 11:339–345
Su H, Kozak CA, Veerhuis R, Lau Y-FC, Wiberg U (1992) Isolation of a phylogenetically conserved and testis-specific gene using a monoclonal antibody against the serological H-Y antigen. J Reprod Immunol 21:275–291
Su T-S, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL (1984) Human chromosome assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet 36:954–964
Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119–124
Tyler-Smith C, Brown WRA (1987) Structure of the major block of alphoid satellite DNA on the human Y chromosome. J Mol Biol 195:457–470
van de Wetering M, Oosterwegel M, Dooijes D, Clevers H (1991) Identification and cloning of TCF-1, a T-lymphocyte specific transcription factor containing a sequence-specific HMG box. EMBO J 10:123–132
van Niekerk WA, Retief AE (1981) The gonads of human true hermaphrodites. Hum Genet 58:117–122
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 38:109–124
Vigier B, Forest MG, Eychenne B, Bézard J, Garrigou O, Robel P, Josso N (1989) Anti-Müllerian hormone produces endocrine sex reversal of fetal ovaries. Proc Natl Acad Sci USA 86:3684–3688
Vilain E, McElreavey KD, Jaubert F, Raymond J-P, Richaud F, Fellous M (1992) Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. Am J Hum Genet 50:1008–1011
Vogt P, Henning W (1986) Molecular structure of the lampbrush loop nooses of the Y chromosome of Drosophila hydei: I. The Y chromosome-specific repetitive DNA sequence family ay1 is dispersed in the loop DNA. Chromosoma 94:449–458
Vogt P, Keil R, Köhler M, Lengauer C, Lewe D, Lewe G (1991) Seletion of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei. Hum Genet 86:341–349
Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A (1992) Microdeletions in intervals 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet 89:491–496
Wachtel SS (1983) H-Y antigen and the biology of sex determination. Grune and Stratton, New York
Wachtel SS (ed) (1989) Evolutionary mechanisms in sex determination. CRC Press, Boca Raton
Wachtel SS, Ohno S, Koo GC, Boyse EA (1975) Possible role for H-Y antigen in the primary determination of sex. Nature 257:235–236
Waibel F, Scherer G, Fraccaro M, Hustinx TWJ, Weissenbach J, Wieland J, Mayerová A, Back E, Wolf U (1987) Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis. Hum Genet 76:332–336
Walter MA, Gubbay J, Capel B, Lovell-Badge R, Goodfellow P (1991) Sry is the testis-determining factor: evidence from the expression of the Sry gene in COS cells. Am J Hum Genet 49:S422
Watson JM (1990) Monotreme genetics and cytology and a model for sex chromosome evolution. Aust J Zool 37:385–406
Watson JM, Spencer JA, Riggs AD, Graves JAM (1990) The X chromosome 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 87:7125–7129
Watson JM, Spencer JA, Riggs AD, Graves JAM (1991) Sex chromosome evolution: platypus gene mapping suggests that part of the human X chromosome was originally autosomal. Proc Natl Acad Sci USA 88:11256–11260
Weber B, Schempp W, Wiesner H (1986) An evolutionarily conserved early-replicating segment on the sex chromosomes of man and the great apes. Cytogenet Cell Genet 43:72–78
Weber B, Weissenbach J, Schempp W (1987) Conservation of human-derived pseudoautosomal sequences on the sex chromosomes of the great apes. Cytogenet Cell Genet 45:26–29
Weissenbach J (1988) Mapping the human Y chromosome. Philos Trans R Soc Lond [Biol] 322:125–131
Weissenbach J, Goodfellow PN (1991) Report of the committee on the genetic constitution of the Y chromosome. Cytogenet Cell Genet 58:967–985
Weissenbach J, Levilliers J, Petit C, Rouyer F, Simmler M-C (1987) Normal and abnormal interchanges between the human X and Y chromosomes. Development 101 [Suppl]:67–74
Weissenbach J, Goodfeloow PN, Smith KD (1989) Report of the committee on the genetic constitution of the Y chromosome. Cytogenet Cell Genet 51:438–449
Wevrick R, Willard HF (1989) Long-range organization of tandem arrays of α satellite DNA at the centromeres of human chromosomes: high-frequency array-length polymorphism and meiotic stability. Proc Natl Acad Sci USA 86:9394–9398
Wiberg UH (1987) Facts and considerations about sex-specific antigens. Hum Genet 76:207–219
Wolf U (1978) Zum Mechanismus der Gonadendifferenzierung. Bull Schweiz Akad Med Wiss 34:357–368
Wolf U (1981) Genetics of primary gonadal differentiation. In: Frajese G et al. (eds) Oligozoospermia: recent progress in andrology. Raven, New York, pp 225–231
Wolf U (1985) Genes of the H-Y antigen system and their expression in mammals. In: Sandberg AA (ed) The Y chromosome: A. Basic characteristics of the Y chromosome. Liss, New York, pp 81–91
Wolf U (1988) Sex inversion as a model for the study of sex determination in vertebrates. Philos Trans R Soc Lond [Biol] 322:97–107
Wolfe J, Erickson RP, Rigby PWJ, Goodfellow PN (1984) Cosmid clones derived from both euchromatic and heterochromatic regions of the human Y chromosome. EMBO J 3:1997–2003
Wolfe J, Darling SM, Erickson RP, Craig RW, Buckle VJ, Rigby PWJ, Willard HF, Goodfellow PN (1985) Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 182:477–485
Wrigley JM, Graves JAM (1988) Sex chromosome homology and incomplete, tissue-specific X-inactivation suggest that monotremes represent an intermediate stage of mammalian sex chromosome evolution. J Hered 79:115–118
Yamada K, Isurigi K (1981) H-Y antigen studies in thirty patients with abnormal gonadal differentiation: correlations among sex chromosome complement, H-Y antigen, and gonadal type. Jpn J Hum Genet 26:227–235
Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ (1987) Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell 49:443–454
Yen PH, Marsh B, Allen E, Tsai S-P, Ellison J, Connolly 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 55:1123–1135
Yen PH, Tsai S-P, Wanger SL, Steele MW, Mohandas TK, Shapiro LJ (1991) X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. Proc Natl Acad Sci USA 88:8944–8948
Zech L (1969) Investigation of metaphase chromosomes with DNA-binding fluorochromes. Exp Cell Res 58:463
Zenzes MT, Müller U, Aschmoneit I, Wolf U (1978a) Studies on H-Y antigen in different cell fractions of the testis during pubescence. Hum Genet 45:297–303
Zenzes MT, Wolf U, Engel W (1978b) Organization in vitro of ovarian cells into testicular structures. Hum Genet 44:333–338
Author information
Authors and Affiliations
Additional information
We dedicate this review to Susumu Ohno, whose ideas motivated our interest in this exciting field of research
Rights and permissions
Copyright information
© 1992 Springer-Verlag
About this chapter
Cite this chapter
Wolf, U., Schempp, W., Scherer, G. (1992). Molecular biology of the human Y chromosome. In: Reviews of Physiology, Biochemistry and Pharmacology, Volume 121. Reviews of Physiology, Biochemistry and Pharmacology, vol 121. Springer, Berlin, Heidelberg. https://doi.org/10.1007/BFb0033195
Download citation
DOI: https://doi.org/10.1007/BFb0033195
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-55969-6
Online ISBN: 978-3-540-47334-3
eBook Packages: Springer Book Archive