Skip to main content
NCBI home page
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1987 Sep 25;15(18):7325–7342. doi: 10.1093/nar/15.18.7325

Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.

N A Affara 1, M A Ferguson-Smith 1, R E Magenis 1, J L Tolmie 1, E Boyd 1, A Cooke 1, D Jamieson 1, K Kwok 1, M Mitchell 1, L Snadden 1
PMCID: PMC306251  PMID: 3658694

Abstract

A number of patients with paradoxical sex chromosome complements (so-called XY females, XX and XO males) have been investigated with a series of 19 Yp and 4 Yq DNA probes to establish which region of the Y is essential for male sexual differentiation. Of the 23 XX males, 18 possessed one or more Yp probe sequences with only 5 lacking such sequences. Of 9 XY females examined, only one showed evidence of a deletion in Yp occurring either as a result of X-Y interchange or interstitial deletion. This suggests that the majority of XY females are not commonly deleted for those Y sequences which are found to be transferred to the X in XX males. The DNA of two XO males both contained different portions of the Y. From a comparison of the patterns of Yp sequences in these patients, it has been possible to elaborate a model of Yp in terms of the order of probe sequences and to suggest a location for the testis determining region in distal Yp.

Full text

PDF
7325

Images in this article

7328Image
on p.7328
7329Image
on p.7329
7335Image
on p.7335
7336Image
on p.7336

Selected References

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

  1. Affara N. A., Ferguson-Smith M. A., Tolmie J., Kwok K., Mitchell M., Jamieson D., Cooke A., Florentin L. Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res. 1986 Jul 11;14(13):5375–5387. doi: 10.1093/nar/14.13.5375. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Affara N. A., Florentin L., Morrison N., Kwok K., Mitchell M., Cook A., Jamieson D., Glasgow L., Meredith L., Boyd E. Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences. Nucleic Acids Res. 1986 Jul 11;14(13):5353–5373. doi: 10.1093/nar/14.13.5353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Andersson M., Page D. C., de la Chapelle A. Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science. 1986 Aug 15;233(4765):786–788. doi: 10.1126/science.3738510. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. 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]
  6. Buckle V. J., Boyd Y., Fraser N., Goodfellow P. N., Goodfellow P. J., Wolfe J., Craig I. W. Localisation of Y chromosome sequences in normal and 'XX' males. J Med Genet. 1987 Apr;24(4):197–203. doi: 10.1136/jmg.24.4.197. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Buckle V., Mondello C., Darling S., Craig I. W., Goodfellow P. N. Homologous expressed genes in the human sex chromosome pairing region. Nature. 1985 Oct 24;317(6039):739–741. doi: 10.1038/317739a0. [DOI] [PubMed] [Google Scholar]
  8. Chandra H. S. Sex determination: a hypothesis based on noncoding DNA. Proc Natl Acad Sci U S A. 1985 Feb;82(4):1165–1169. doi: 10.1073/pnas.82.4.1165. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. 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]
  10. Coulam C. B. Testicular regression syndrome. Obstet Gynecol. 1979 Jan;53(1):44–49. [PubMed] [Google Scholar]
  11. Davis R. M. Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet. 1981 Jun;18(3):161–195. doi: 10.1136/jmg.18.3.161. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Disteche C. M., Casanova M., Saal H., Friedman C., Sybert V., Graham J., Thuline H., Page D. C., Fellous M. Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci U S A. 1986 Oct;83(20):7841–7844. doi: 10.1073/pnas.83.20.7841. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. FERGUSON-SMITH M. A. KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS. J Med Genet. 1965 Jun;2(2):142–155. doi: 10.1136/jmg.2.2.142. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  15. Ferguson-Smith M. A. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet. 1966 Aug 27;2(7461):475–476. doi: 10.1016/s0140-6736(66)92778-4. [DOI] [PubMed] [Google Scholar]
  16. Goodfellow P. J., Darling S. M., Thomas N. S., Goodfellow P. N. A pseudoautosomal gene in man. Science. 1986 Nov 7;234(4777):740–743. doi: 10.1126/science.2877492. [DOI] [PubMed] [Google Scholar]
  17. Guellaen G., Casanova M., Bishop C., Geldwerth D., Andre G., Fellous M., Weissenbach J. Human XX males with Y single-copy DNA fragments. Nature. 1984 Jan 12;307(5947):172–173. doi: 10.1038/307172a0. [DOI] [PubMed] [Google Scholar]
  18. Harris P., Boyd E., Young B. D., Ferguson-Smith M. A. Determination of the DNA content of human chromosomes by flow cytometry. Cytogenet Cell Genet. 1986;41(1):14–21. doi: 10.1159/000132190. [DOI] [PubMed] [Google Scholar]
  19. Josso N., Briard M. L. Embryonic testicular regression syndrome: variable phenotypic expression in siblings. J Pediatr. 1980 Aug;97(2):200–204. doi: 10.1016/s0022-3476(80)80474-4. [DOI] [PubMed] [Google Scholar]
  20. Koenig M., Moisan J. P., Heilig R., Mandel J. L. Homologies between X and Y chromosomes detected by DNA probes: localisation and evolution. Nucleic Acids Res. 1985 Aug 12;13(15):5485–5501. doi: 10.1093/nar/13.15.5485. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. 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]
  22. Lau Y. F., Huang J. C., Dozy A. M., Kan Y. W. A rapid screening test for antenatal sex determination. Lancet. 1984 Jan 7;1(8367):14–16. doi: 10.1016/s0140-6736(84)90182-x. [DOI] [PubMed] [Google Scholar]
  23. Magenis R. E., Tochen M. L., Holahan K. P., Carey T., Allen L., Brown M. G. Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. J Pediatr. 1984 Dec;105(6):916–919. doi: 10.1016/s0022-3476(84)80077-3. [DOI] [PubMed] [Google Scholar]
  24. Magenis R. E., Webb M. J., McKean R. S., Tomar D., Allen L. J., Kammer H., Van Dyke D. L., Lovrien E. Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype. Hum Genet. 1982;62(3):271–276. doi: 10.1007/BF00333535. [DOI] [PubMed] [Google Scholar]
  25. Müller U., Donlon T., Schmid M., Fitch N., Richer C. L., Lalande M., Latt S. A. 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. 1986 Aug 26;14(16):6489–6505. doi: 10.1093/nar/14.16.6489. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Müller U., Lalande M., Donlon T., Latt S. A. 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. 1986 Feb 11;14(3):1325–1340. doi: 10.1093/nar/14.3.1325. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. 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]
  28. 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]
  29. Pritchard C. A., Goodfellow P. J., Goodfellow P. N. Mapping the limits of the human pseudoautosomal region and a candidate sequence for the male-determining gene. Nature. 1987 Jul 16;328(6127):273–275. doi: 10.1038/328273a0. [DOI] [PubMed] [Google Scholar]
  30. 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]
  31. Simpson J. L., Blagowidow N., Martin A. O. XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis. Hum Genet. 1981;58(1):91–97. doi: 10.1007/BF00284155. [DOI] [PubMed] [Google Scholar]
  32. 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]
  33. Wahl G. M., Stern M., Stark G. R. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci U S A. 1979 Aug;76(8):3683–3687. doi: 10.1073/pnas.76.8.3683. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Wilcox D. E., Affara N. A., Yates J. R., Ferguson-Smith M. A., Pearson P. L. Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy. Hum Genet. 1985;70(4):365–375. doi: 10.1007/BF00295379. [DOI] [PubMed] [Google Scholar]
  35. Wolf U., Fraccaro M., Mayerová A., Hecht T., Maraschio P., Hameister H. A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet. 1980;54(2):149–154. doi: 10.1007/BF00278963. [DOI] [PubMed] [Google Scholar]
  36. 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]
  37. de la Chapelle A., Page D. C., Brown L., Kaski U., Parvinen T., Tippett P. A. The origin of 45,X males. Am J Hum Genet. 1986 Mar;38(3):330–340. [PMC free article] [PubMed] [Google Scholar]
  38. de la Chapelle A., Tippett P. A., Wetterstrand G., Page D. Genetic evidence of X-Y interchange in a human XX male. Nature. 1984 Jan 12;307(5947):170–171. doi: 10.1038/307170a0. [DOI] [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES