Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1986 Apr;38(4):407–418.

A DNA probe detecting multiple haplotypes of the human Y chromosome.

K Y Ngo, G Vergnaud, C Johnsson, G Lucotte, J Weissenbach
PMCID: PMC1684810  PMID: 3010708

Abstract

We have characterized a DNA probe (49f) that detects about 15 Y-specific TaqI bands corresponding to a low-copy number sequence. Five of these bands, each representing a single DNA fragment, can either be present, absent, or variable in length. Familial segregation studies have shown that the variations of these fragments are inherited in a Mendelian fashion and strictly Y-linked. A survey of 44 male individuals indicated that the five variable TaqI fragments detected by probe 49f can be considered as five independent allelic series. Each series represents the different and mutually exclusive allelic forms observed for a single DNA fragment. A total of 16 haplotypes, each defined by a different combination of the various forms of each of these five restriction fragment length polymorphisms, were observed among the 44 scored individuals. These TaqI restriction polymorphisms are not observed with other restriction digests and have therefore been attributed to point mutations. The five polymorphic fragments map to Yq11, a region that does not recombine with the X chromosome and are therefore not redistributed. This implies that an apparently independent reassortment of one of these series with respect to the others can be explained only on the basis of mutations that occurred several times (or reverted) during evolution of the Y chromosome. However, an examination of the different combinations of two or more allelic series suggests that some alleles are not randomly distributed and raises the possibility of establishing a genealogy of the human Y chromosome.

Full text

PDF
407

Images in this article

409Fig. 1
on p.409
411Fig. 2
on p.411
412Fig. 3
on p.412
414Fig. 4
on p.414

Selected References

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

  1. Avise J. C., Giblin-Davidson C., Laerm J., Patton J. C., Lansman R. A. Mitochondrial DNA clones and matriarchal phylogeny within and among geographic populations of the pocket gopher, Geomys pinetis. Proc Natl Acad Sci U S A. 1979 Dec;76(12):6694–6698. doi: 10.1073/pnas.76.12.6694. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Barker D., Schafer M., White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell. 1984 Jan;36(1):131–138. doi: 10.1016/0092-8674(84)90081-3. [DOI] [PubMed] [Google Scholar]
  3. Bhattacharya S. S., Wright A. F., Clayton J. F., Price W. H., Phillips C. I., McKeown C. M., Jay M., Bird A. C., Pearson P. L., Southern E. M. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984 May 17;309(5965):253–255. doi: 10.1038/309253a0. [DOI] [PubMed] [Google Scholar]
  4. Bird A. P. DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res. 1980 Apr 11;8(7):1499–1504. doi: 10.1093/nar/8.7.1499. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bishop C. E., Boursot P., Baron B., Bonhomme F., Hatat D. Most classical Mus musculus domesticus laboratory mouse strains carry a Mus musculus musculus Y chromosome. Nature. 1985 May 2;315(6014):70–72. doi: 10.1038/315070a0. [DOI] [PubMed] [Google Scholar]
  6. 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]
  7. 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]
  8. Blin N., Stafford D. W. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res. 1976 Sep;3(9):2303–2308. doi: 10.1093/nar/3.9.2303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
  10. Camerino G., Mattei M. G., Mattei J. F., Jaye M., Mandel J. L. Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature. 1983 Dec 15;306(5944):701–704. doi: 10.1038/306701a0. [DOI] [PubMed] [Google Scholar]
  11. Cooke H. J., Brown W. R., Rappold G. A. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature. 1985 Oct 24;317(6039):687–692. doi: 10.1038/317687a0. [DOI] [PubMed] [Google Scholar]
  12. Denaro M., Blanc H., Johnson M. J., Chen K. H., Wilmsen E., Cavalli-Sforza L. L., Wallace D. C. Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1981 Sep;78(9):5768–5772. doi: 10.1073/pnas.78.9.5768. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Ferris S. D., Wilson A. C., Brown W. M. Evolutionary tree for apes and humans based on cleavage maps of mitochondrial DNA. Proc Natl Acad Sci U S A. 1981 Apr;78(4):2432–2436. doi: 10.1073/pnas.78.4.2432. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Gautreau C., Rahuel C., Cartron J. P., Lucotte G. Comparison of two methods of high-molecular-weight DNA isolation from human leucocytes. Anal Biochem. 1983 Oct 15;134(2):320–324. doi: 10.1016/0003-2697(83)90304-4. [DOI] [PubMed] [Google Scholar]
  15. Gusella J. F., Wexler N. S., Conneally P. M., Naylor S. L., Anderson M. A., Tanzi R. E., Watkins P. C., Ottina K., Wallace M. R., Sakaguchi A. Y. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17;306(5940):234–238. doi: 10.1038/306234a0. [DOI] [PubMed] [Google Scholar]
  16. Kan Y. W., Dozy A. M. Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet. 1978 Oct 28;2(8096):910–912. doi: 10.1016/s0140-6736(78)91629-x. [DOI] [PubMed] [Google Scholar]
  17. Lamar E. E., Palmer E. Y-encoded, species-specific DNA in mice: evidence that the Y chromosome exists in two polymorphic forms in inbred strains. Cell. 1984 May;37(1):171–177. doi: 10.1016/0092-8674(84)90312-x. [DOI] [PubMed] [Google Scholar]
  18. Lansman R. A., Shade R. O., Shapira J. F., Avise J. C. The use of restriction endonucleases to measure mitochondrial DNA sequence relatedness in natural populations. III. Techniques and potential applications. J Mol Evol. 1981;17(4):214–226. doi: 10.1007/BF01732759. [DOI] [PubMed] [Google Scholar]
  19. Lucchesi J. C. Gene dosage compensation and the evolution of sex chromosomes. Science. 1978 Nov 17;202(4369):711–716. doi: 10.1126/science.715437. [DOI] [PubMed] [Google Scholar]
  20. Murray J. M., Davies K. E., Harper P. S., Meredith L., Mueller C. R., Williamson R. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature. 1982 Nov 4;300(5887):69–71. doi: 10.1038/300069a0. [DOI] [PubMed] [Google Scholar]
  21. Rahuel C., Dandieu S., Chaussé A. M., Mornet E., Rouger P., Cartron J. P., Salmon C., Lucotte G. Constitution d'une banque d'ADN d'origine humaine. Rev Fr Transfus Immunohematol. 1983 Nov;26(5):539–552. doi: 10.1016/s0338-4535(83)80123-8. [DOI] [PubMed] [Google Scholar]
  22. 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]
  23. Simmler M. C., Rouyer F., Vergnaud G., Nyström-Lahti M., Ngo K. Y., de la Chapelle A., Weissenbach J. Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature. 1985 Oct 24;317(6039):692–697. doi: 10.1038/317692a0. [DOI] [PubMed] [Google Scholar]
  24. Skolnick M. H., Willard H. F., Menlove L. A. Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet. 1984;37(1-4):210–273. doi: 10.1159/000132011. [DOI] [PubMed] [Google Scholar]
  25. 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]
  26. Vergnaud G., Page D. C., Simmler M. C., Brown L., Rouyer F., Noel B., Botstein D., de la Chapelle A., Weissenbach J. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet. 1986 Feb;38(2):109–124. [PMC free article] [PubMed] [Google Scholar]
  27. White R., Leppert M., Bishop D. T., Barker D., Berkowitz J., Brown C., Callahan P., Holm T., Jerominski L. Construction of linkage maps with DNA markers for human chromosomes. Nature. 1985 Jan 10;313(5998):101–105. doi: 10.1038/313101a0. [DOI] [PubMed] [Google Scholar]
  28. Wieacker P., Davies K. E., Cooke H. J., Pearson P. L., Williamson R., Bhattacharya S., Zimmer J., Ropers H. H. Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet. 1984 Mar;36(2):265–276. [PMC free article] [PubMed] [Google Scholar]
  29. Wolfe J., Erickson R. P., Rigby P. W., Goodfellow P. N. Cosmid clones derived from both euchromatic and heterochromatic regions of the human Y chromosome. EMBO J. 1984 Sep;3(9):1997–2003. doi: 10.1002/j.1460-2075.1984.tb02081.x. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES