Summary
Two DNA probes from within a single large insert from a recombinant phage-DNA library that was constructed from flow-sorted chromosomes enriched for the human X chromosome were shown to hybridize with repeated X-specific and autosomal DNA sequences. The X-chromosomal repeated sequences were assigned to the distal long arm of the X chromosome by both hybrid mapping and in situ hybridization. Fine mapping places these repeats in a region of Xq28 between DX13 (DXS15, in distal Xq28) and factor VIII (F8C, in proximal Xq28). The location of the X-specific repeats makes them potentially useful for future investigations of discases mapping to the distal long arm of the X chromosome, such as the fragile X syndrome.
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References
Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt SA (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36:546–564
Boggs BA, Nussbaum RL (1984) Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26→Xqter. Somatic Cell Mol Genet 10:607–613
Bolivar F, Rodriguez RL, Greene PJ, Betlach MV, Heymecker HL, Boyer HW, Crosa JH, Falkow S (1977) Construction and characterization of new cloning vehicles. II. A multipurpose cloning system. Gene 2:95–113
Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314–331
Bruns GAP, Gusella JF, Keys C, Leary RC, Housman D, Gerald PS (1982) Isolation of X-chromosome DNA sequences. Adv Exp Med Biol 154:60–72
Camerino G, Grzeschik KH, Jaye M, de la Salle H, Tolsoshev P, Lecocq JP, Heilig R, Mandel JL (1984) Reginal localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci USA 81: 498–502
Cooke H (1976) Repeated sequence specific to human males. Nature 262:182–186
Cooke HJ, McKay RDG (1978) Evolution of a human Y chromosome-specific repeated sequence. Cell 13:453–460
Donlon TA, Litt M, Neucom SR, Magenis RE (1983) Localization of the restriction fragment length polymorphism D14S1 (pAW-101) to chromosome 14q32.1→32.2 by in situ hybridization. Am J Hum Genet 35:1097–1106
Dryna D, Davies K, Hartley D, Mandel JL, Camerino G, Williamson R, White R (1984) Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci USA 81:2836–2839
Gartler SM, Riggs AD (1983) Mammalian X-chromosome inactivation. Annu Rev Genet 17:155–190
Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon OJ, Lawn RM (1984) Characterization of the human factor VIII gene. Nature 312:326–330
Goodfellow PN, Davies KE, Ropers HH (1985) Report of the committee on the genetic constitution of the X and Y chromosome. Human Gene Mapping 8. Cytogenet Cell Genet 40:296–352
Graham GJ, Hall TJ, Cummings MR (1984) Isolation of repetitive DNA sequences from human chromosome 21. Am J Hum Genet 36:25–35
Harper ME, Ullrich A, Saunders GF (1981) Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc Natl Acad Sci USA 78:4458–4460
Kunkel LM, Smith KD, Boyer SH (1979) Organization and heterogeneity of sequences within a repeating unit of human Y chromosome deoxyribonucleic acid. Biochemistry 15:3343–3353
Kunkel LM, Tantravahi U, Eisenhard M, Latt SA (1982) Regional localization on the human X of DNA segments cloned from flowsorted chromosomes. Nucleic Acids Res 10:1557–1578
Kunkel LM, Lalande M, Monaco AP, Flint A, Middlesworth W, Latt SA (1985) Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. Gene 33:251–258
Martin-DeLeon PA, Wolf SF, Persico G, Toniolo D, Martin G, Migeon BR (1985) Localization of glucose-6-phosphate dehydrogenase in mouse and man by in situ hybridization: evidence for a single locus and transposition of homologous X-linked genes. Cytogenet Cell Genet 39:87–92
Mattei MG, Baeteman MA, Heilig R, Oberle I, Davies K, Mandel JL, Mattei JF (1985) Localization by in situ hybridization of the coagulation Factor IX gene and of two polymorphic DNA probes with respect to the fragile X site. Hum Genet 69:327–331
Müller U, Lalande M, Donlon T, Latt SA (1986) 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
Oberle I, Drayna D, Camerino G, White R, Mandel JL (1985) The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA 82:2824–2828
O'Farrel P (1981) Replacement synthesis method of labeling DNA fragments. Focus 3:1–3
Purello M, Alhadeff B, Esposito D, Szabo P, Rocchi M, Truett M, Masiarz F, Siniscalco M (1985) The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3. EMBO J 4:725–729
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 9:1853–1872
Schmid CW, Deininger PL (1975) Sequence organization of the human genome. Cell 6:345–358
Scott AF, Phillips JA, Migeon BR (1979) DNA restriction endonuclease analysis for localization of human beta and delta globin genes on chromosome 11. Proc Natl Acad Sci USA 76:4563–4565
Singer MF (1982) Highly repeated sequences in mammalian genomes. Int Rev Cytol 76:67–112
Southern E (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Sutherland GR (1983) The fragile X chromosome. Int Rev Cytol 81: 107–143
Tantravahi U, Kirschner DA, Beauregard L, Page L, Kunkel L, Latt S (1983) Cytologic and molecular analysis of 46,XXq — cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center. Hum Genet 64:33–38
Tantravahi U, Murty VVVS, Jahanwar SC, Toole JJ, Woozney JM, Chaganti RSK, Latt SA (1986) Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28; implications for factor VIII gene segregation analysis. Cytogenet Cell Genet (in press)
Toole JJ, Knopf JL, Wozney JM, Sultzman LA, Buecker JL, Pittman DD, Kaufman RJ, Brown E, Shoemaker C, Orr EC, Amphlett GW, Foster WB, Coe ML, Knutson GJ, Fass DN, Hewick RM (1984) Molecular cloning of cDNA encoding human antihaemophilic factor. Nature 312:342–347
Waye JS, Willard HF (1985) Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome. Nucleic Acids Res 13:2731–2743
Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Southern E, Zimmer J, Ropers HH (1984) Towards a complete linkage map of the human X chromosome: regional assignment of 17 cloned single copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet 36:265–276
Willard H, Smith K, Sutherland J (1983) Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res 11:2017–2033
Wolf SF, Jolly DJ, Lunnen KD, Friedmann T, Migeon BR (1984) Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation. Proc Natl Acad Sci USA 81:2806–2810
Yang TP, Hansen SK, Oishi KK, Ryder OA, Hamkalo BA (1982) Characterization of a cloned repetitive DNA sequence concentrated on the human X chromosome. Proc Natl Acad Sci USA 79:6593–6597
Yen PH, Patel P, Chinault AC, Mohandas T, Shapiro L (1984) Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes. Proc Natl Acad Sci USA 81:1759–1763
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Müller, U., Tantravahi, U., Monaco, A. et al. Repeated DNA sequences in the distal long arm of the human X chromosome. Hum Genet 74, 24–29 (1986). https://doi.org/10.1007/BF00278780
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DOI: https://doi.org/10.1007/BF00278780