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Deletion mapping of 39 random isolated Y-chromosome DNA fragments

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Summary

Thirty-nine recombinants isolated from a Y chromosome-specific library were deletion mapped. Seven deletion intervals were defined by hybridization of probes to DNA of eight individuals with aberrant Y chromosomes. Extreme cytogenetic limits of the deletion intervals were determined by in situ hybridization of one probe per deletion interval. Five intervals, with a total of twenty-five probes, were allocated to the longarm euchromatic region. The probes described will be useful for characterization of aberrant Y chromosomes, in searching for expressed sequences on the Y chromosome, and for further study of the evolutionary relationship between the Y chromosome and other chromosomes.

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References

  • 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

    Google Scholar 

  • Affara NA, Florentin L, Morrison N, Kwok K, Mitchell M, Cooke 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

    Google Scholar 

  • 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

    Google Scholar 

  • Bickmore WA, Cook HJ (1987) Evolution of homologous sequences on the human X and Y chromosomes, outside of the meiotic pairing segment. Nucleic Acids Res 15:6261–6271

    Google Scholar 

  • Bishop C, Guellaen G, Geldwerth D, Fellous M, Weissenbach J (1984) Extensive sequence homologies between Y and other chromosomes. J Mol Biol 173:403–417

    Google Scholar 

  • Chapelle A de la, Tippett PA, Wetterstrand G, Page D (1984) Genetic evidence of interchange in a human XX male. Nature 307:170–171

    Google Scholar 

  • Cooke HJ (1976) Repeated sequences specific for human males. Nature 262:182–186

    Google Scholar 

  • Cooke HJ, Schmidtke J, Gosden JR (1982) Structure and evolution of human Y-chromosome repeated sequence and related sequences in higher primates. Chromosoma 87:491–502

    Google Scholar 

  • Cooke HJ, Brown WAR, Rappold GA (1984) Closely related sequences on human X and Y chromosomes outside the pairing region. Nature 311:259–261

    Google Scholar 

  • Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13

    Google Scholar 

  • Feinberg AP, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Addendum. Anal Biochem 137:266–267

    Google Scholar 

  • Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2:142–155

    Google Scholar 

  • Frommer M, Prosser J, Vincent PC (1984) Human satellite I sequences include a male-specific 2. 4-kb trandemly repeating unit containing one alu family member per repeat. Nucleic Acids Res 12:2887–2900

    Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • Harper M, Saunders G (1981) Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridization. Chromosoma 83:431–439

    Google Scholar 

  • Heilig R, Hanauer A, Grzeschik K-H, Hors-Cayla MC, Mandel J-L (1984) Actin-like sequences are present on the X- and Y-chromosomes. EMBO J 3:1803–1807

    Google Scholar 

  • Koenig M, Camerino G, Heilig R, Mandel J-L (1984) A DNA fragment from the human X-chromosome short arm which detects a partially homologous sequence on the Y-chromosome long arm. Nucleic Acids Res 12:4097–4109

    Google Scholar 

  • Koenig M, Moison JP, Heilig R, Mandel J-L (1985) Homologies between X- and Y-chromosomes detected by DNA probes: localization and evolution. Nucleic Acids Res 13:5485–5501

    Google Scholar 

  • Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM (1977) Analysis of human Y-chromosome: reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245–1249

    Google Scholar 

  • Maniatis T, Fritsch EF, Sambrook J (eds) (1982) Molecular cloning: a loboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY

    Google Scholar 

  • Müller U, Donlon T, Schmid M, Fitch N, Richer C-L, Lalande L, Latt SA (1986a) Deletion mapping of the testis determining locus with DNA probes in 46,XX males in in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res 14:6489–6505

    Google Scholar 

  • 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 in an XY-female. Nucleic Acids Res 14:1325–1340

    Google Scholar 

  • Nakahori Y, Mitani K, Yamada M, Nakagome Y (1986) A human Y-chromosome specific repeated DNA family consists of a tandem array of pentanucleotides. Nucleic Acids Res 14:7569–7580

    Google Scholar 

  • Page DC (1986) Sex reversal: deletion mapping of the male determining function of the human Y-chromosome. Cold Spring Harb Symp Quant Biol 51:229–233

    Google Scholar 

  • Page D, De Martinville B, 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 74:5352–5356

    Google Scholar 

  • 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

    Google Scholar 

  • Page DC, Mosher R, Simpson EM, Fisher EM, Mardon G, Pollack J, McGillivray B, Chapelle A de la, Brown LG (1987) The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51:1091–1104

    Google Scholar 

  • Pritchard CA, Goodfellow PJ, Goodfellow PN (1987a) Isolation of a sequence which maps close to the human sex determining gene. Nucleic Acids Res 15:6159–6169

    Google Scholar 

  • Pritchard CA, Goodfellow PJ, Goodfellow PN (1987b) Mapping the limits of the human pseudoautosomal region and a candidate sequence for the male-determining gene. Nature 328:273–275

    Google Scholar 

  • Sealy P, Whittaker P, Southern EM (1985) Removal of repeated sequences from hybridization probes. Nucleic Acids Res 13:1905–1922

    Google Scholar 

  • Seboun E, Leroy P, Casanova M, Magenis E, Boucekkine C, Disteche C, Bishop C, Fellous M (1986) A molecular approach to the study of the human Y chromosome and anomalies of sex determination in man. Cold Spring Harb Symp Quant Biol 51:237–248

    Google Scholar 

  • 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

    Google Scholar 

  • Tiepolo L, Zuffardi O (1976) Localisation of factors controlling spermatogenesis in the non-fluorescent portion of the human Y-chromosome long arm. Hum Genet 34:119–124

    Google Scholar 

  • Vergnaud G, Page D, Simmler M-C, Brown L, Rouyer F, Noel B, Botstein D, Chapelle A de la, Weissenbach J (1986) A deletion map of the human Y-chromosome based on DNA hybridization. Am J Hum Genet 38:109–124

    Google Scholar 

  • Wachtel SS, Koo GC, Zuckerman EE, Hamerling U, Scheid MP, Boyse EA (1974) Serological cross reactivity between H-Y (male) antigens of mouse and man. Proc Natl Acad Sci USA 71:1215–1218

    Google Scholar 

  • Wachtel SS, Ohno S, Koo GC, Boyse EA (1975) Possible role for H-Y antigen in the primary determination of sex. Nature 157:235–236

    Google Scholar 

  • 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

    Google Scholar 

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Oosthuizen, C.J.J., Herbert, J.S., Vermaak, L.K. et al. Deletion mapping of 39 random isolated Y-chromosome DNA fragments. Hum Genet 85, 205–210 (1990). https://doi.org/10.1007/BF00193197

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  • DOI: https://doi.org/10.1007/BF00193197

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