Characterization and evolution of a single-copy sequence from the human Y chromosome (original) (raw)

Abstract

To study the evolution and organization of DNA from the human Y chromosome, we constructed a recombinant library of human Y DNA by using a somatic cell hybrid in which the only cytologically detectable human chromosome is the Y. One recombinant (4B2) contained a 3.3-kilobase EcoRI single-copy fragment which was localized to the proximal portion of the Y long arm. Sequences homologous to this human DNA are present in male gorilla, chimpanzee, and orangutan DNAs but not in female ape DNAs. Under stringent hybridization conditions, the homologous sequence is either a single-copy or a low-order repeat in humans and in the apes. With relaxed hybridization conditions, this human Y probe detected several homologous DNA fragments which are all derived from the Y in that they occur in male DNAs from humans and the apes but not in female DNAs. In contrast, this probe hybridized to highly repeated sequences in both male and female DNAs from old world monkeys. Thus, sequences homologous to this probe underwent a change in copy number and chromosomal distribution during primate evolution.

576

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Adams J. W., Kaufman R. E., Kretschmer P. J., Harrison M., Nienhuis A. W. A family of long reiterated DNA sequences, one copy of which is next to the human beta globin gene. Nucleic Acids Res. 1980 Dec 20;8(24):6113–6128. doi: 10.1093/nar/8.24.6113. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Benton W. D., Davis R. W. Screening lambdagt recombinant clones by hybridization to single plaques in situ. Science. 1977 Apr 8;196(4286):180–182. doi: 10.1126/science.322279. [DOI] [PubMed] [Google Scholar]
  3. Bishop C. E., Guellaen G., Geldwerth D., Voss R., Fellous M., Weissenbach J. Single-copy DNA sequences specific for the human Y chromosome. Nature. 1983 Jun 30;303(5920):831–832. doi: 10.1038/303831a0. [DOI] [PubMed] [Google Scholar]
  4. Bishop C., Guellaen G., Geldwerth D., Fellous M., Weissenbach J. Extensive sequence homologies between Y and other human chromosomes. J Mol Biol. 1984 Mar 15;173(4):403–417. doi: 10.1016/0022-2836(84)90388-7. [DOI] [PubMed] [Google Scholar]
  5. Blattner F. R., Williams B. G., Blechl A. E., Denniston-Thompson K., Faber H. E., Furlong L., Grunwald D. J., Kiefer D. O., Moore D. D., Schumm J. W. Charon phages: safer derivatives of bacteriophage lambda for DNA cloning. Science. 1977 Apr 8;196(4286):161–169. doi: 10.1126/science.847462. [DOI] [PubMed] [Google Scholar]
  6. Burk R. D., Stamberg J., Young K. E., Smith K. D. Use of repetitive DNA for diagnosis of chromosomal rearrangements. Hum Genet. 1983;64(4):339–342. doi: 10.1007/BF00292365. [DOI] [PubMed] [Google Scholar]
  7. Clarke L., Carbon J. A colony bank containing synthetic Col El hybrid plasmids representative of the entire E. coli genome. Cell. 1976 Sep;9(1):91–99. doi: 10.1016/0092-8674(76)90055-6. [DOI] [PubMed] [Google Scholar]
  8. Cooke H. J., McKay R. D. Evolution of a human Y chromosome-specific repeated sequence. Cell. 1978 Mar;13(3):453–460. doi: 10.1016/0092-8674(78)90319-7. [DOI] [PubMed] [Google Scholar]
  9. Cooke H. J., Schmidtke J., Gosden J. R. Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates. Chromosoma. 1982;87(5):491–502. doi: 10.1007/BF00333470. [DOI] [PubMed] [Google Scholar]
  10. Cooke H. Repeated sequence specific to human males. Nature. 1976 Jul 15;262(5565):182–186. doi: 10.1038/262182a0. [DOI] [PubMed] [Google Scholar]
  11. Deininger P. L., Jolly D. J., Rubin C. M., Friedmann T., Schmid C. W. Base sequence studies of 300 nucleotide renatured repeated human DNA clones. J Mol Biol. 1981 Sep 5;151(1):17–33. doi: 10.1016/0022-2836(81)90219-9. [DOI] [PubMed] [Google Scholar]
  12. Golomb H. M., Bahr G. F. Analysis of an isolated metaphase plate by quantitative electron microscopy. Exp Cell Res. 1971 Sep;68(1):65–74. doi: 10.1016/0014-4827(71)90587-8. [DOI] [PubMed] [Google Scholar]
  13. Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Kunkel L. M., Smith K. D., Boyer S. H. Human Y-chromosome-specific reiterated DNA. Science. 1976 Mar 19;191(4232):1189–1190. doi: 10.1126/science.1257744. [DOI] [PubMed] [Google Scholar]
  15. Kunkel L. M., Smith K. D., Boyer S. H. Organization and heterogeneity of sequences within a repeating unit of human Y chromosome deoxyribonucleic acid. Biochemistry. 1979 Jul 24;18(15):3343–3353. doi: 10.1021/bi00582a022. [DOI] [PubMed] [Google Scholar]
  16. Kunkel L. M., Smith K. D. Evolution of human Y-chromosome DNA. Chromosoma. 1982;86(2):209–228. doi: 10.1007/BF00288677. [DOI] [PubMed] [Google Scholar]
  17. Miklos G. L., John B. Heterochromatin and satellite DNA in man: properties and prospects. Am J Hum Genet. 1979 May;31(3):264–280. [PMC free article] [PubMed] [Google Scholar]
  18. Page D. C., Harper M. E., Love J., Botstein D. Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature. 1984 Sep 13;311(5982):119–123. doi: 10.1038/311119a0. [DOI] [PubMed] [Google Scholar]
  19. Page D., de Martinville B., Barker D., Wyman A., White R., Francke U., Botstein D. Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A. 1982 Sep;79(17):5352–5356. doi: 10.1073/pnas.79.17.5352. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Rary J. M., Cummings D. K., Jones H. W., Jr, Rock J. A., Julian C. G. Cytogenetic and clinical notes on a girl with a 46,X,i(Yq) karyotype, H-Y antigen-negative, and a gonadoblastoma. Birth Defects Orig Artic Ser. 1978;14(6C):97–107. [PubMed] [Google Scholar]
  21. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  22. Schmeckpeper B. J., Willard H. F., Smith K. D. Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome. Nucleic Acids Res. 1981 Apr 24;9(8):1853–1872. doi: 10.1093/nar/9.8.1853. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Seed B., Parker R. C., Davidson N. Representation of DNA sequences in recombinant DNA libraries prepared by restriction enzyme partial digestion. Gene. 1982 Sep;19(2):201–209. doi: 10.1016/0378-1119(82)90007-5. [DOI] [PubMed] [Google Scholar]
  24. Shafit-Zagardo B., Maio J. J., Brown F. L. KpnI families of long, interspersed repetitive DNAs in human and other primate genomes. Nucleic Acids Res. 1982 May 25;10(10):3175–3193. doi: 10.1093/nar/10.10.3175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Singer M. F. Highly repeated sequences in mammalian genomes. Int Rev Cytol. 1982;76:67–112. doi: 10.1016/s0074-7696(08)61789-1. [DOI] [PubMed] [Google Scholar]
  26. Singer M. F. SINEs and LINEs: highly repeated short and long interspersed sequences in mammalian genomes. Cell. 1982 Mar;28(3):433–434. doi: 10.1016/0092-8674(82)90194-5. [DOI] [PubMed] [Google Scholar]
  27. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  28. Tiepolo L., Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976 Oct 28;34(2):119–124. doi: 10.1007/BF00278879. [DOI] [PubMed] [Google Scholar]
  29. Yunis J. J., Prakash O. The origin of man: a chromosomal pictorial legacy. Science. 1982 Mar 19;215(4539):1525–1530. doi: 10.1126/science.7063861. [DOI] [PubMed] [Google Scholar]