Abstract
Eleven Y-specific DNA probes hybridizing with DNA from one or more 46,XX males were isolated from a recombinant phage DNA library constructed from flow sorted human Y chromosomes. Two probes hybridized with DNA from nine out of eleven, i.e. greater than 80% of these 46,XX males. The relative frequency of hybridization of the probes in the 46,XX males and in a 46,X,dic(Y) female, together with in situ hybridization data, allowed mapping of the probes on Yp in relation to a putative testis determining locus. Several of those probes were also absent in a 46,XY female, further refining a model for ordering the probes on Yp. The DNA of one XX male hybridized both with probes from Yp and probes from proximal Yq (excluding the pericentral region). This suggests that complex translocations may occur into the DNA of 46,XX males that involve not only parts of Yp but also parts of Yq.
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- 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]
- Burgoyne P. S. Genetic homology and crossing over in the X and Y chromosomes of Mammals. Hum Genet. 1982;61(2):85–90. doi: 10.1007/BF00274192. [DOI] [PubMed] [Google Scholar]
- Chapelle A. D., Schröder J., Murros J., Tallqvist G. Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet. 1977 Feb;11(2):91–106. doi: 10.1111/j.1399-0004.1977.tb01285.x. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Donlon T. A., Litt M., Newcom S. R., Magenis R. E. Localization of the restriction fragment length polymorphism D14S1 (pAW-101) to chromosome 14q32.1 leads to 32.2 by in situ hybridization. Am J Hum Genet. 1983 Nov;35(6):1097–1106. [PMC free article] [PubMed] [Google Scholar]
- Evans H. J., Buckton K. E., Spowart G., Carothers A. D. Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum Genet. 1979 May 23;49(1):11–31. doi: 10.1007/BF00277683. [DOI] [PubMed] [Google Scholar]
- Fitch N., Richer C. L., Pinsky L., Kahn A. Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities. Am J Med Genet. 1985 Jan;20(1):31–42. doi: 10.1002/ajmg.1320200106. [DOI] [PubMed] [Google Scholar]
- 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]
- Harper M. E., Ullrich A., Saunders G. F. Localization of the human insulin gene to the distal end of the short arm of chromosome 11. Proc Natl Acad Sci U S A. 1981 Jul;78(7):4458–4460. doi: 10.1073/pnas.78.7.4458. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Kunkel L. M., Tantravahi U., Eisenhard M., Latt S. A. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res. 1982 Mar 11;10(5):1557–1578. doi: 10.1093/nar/10.5.1557. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Madan K., Walker S. Letter: Possible evidence for Xp plus in and XX Male. Lancet. 1974 Jun 15;1(7868):1223–1223. doi: 10.1016/s0140-6736(74)91028-9. [DOI] [PubMed] [Google Scholar]
- 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]
- 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]
- Müller U., Mayerová A., Debus B., Fraccaro M., Gilgenkrantz S., Glatzl J., Madan K., Pfeiffer R. A., Prader A., Zuffardi O. Correlation between testicular tissue and H-Y phenotype in intersex patients. Clin Genet. 1983 Jan;23(1):49–57. doi: 10.1111/j.1399-0004.1983.tb00437.x. [DOI] [PubMed] [Google Scholar]
- Müller U., Schempp W. Homologous early replication patterns of the distal short arms of prometaphasic X and Y chromosomes. Hum Genet. 1982;60(3):274–275. doi: 10.1007/BF00303017. [DOI] [PubMed] [Google Scholar]
- Page D. C., de la Chapelle A., Weissenbach J. Chromosome Y-specific DNA in related human XX males. Nature. 1985 May 16;315(6016):224–226. doi: 10.1038/315224a0. [DOI] [PubMed] [Google Scholar]
- SWYER G. I. Male pseudohermaphroditism: a hitherto undescribed form. Br Med J. 1955 Sep 17;2(4941):709–712. doi: 10.1136/bmj.2.4941.709. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 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]
- Su T. S., Nussbaum R. L., Airhart S., Ledbetter D. H., Mohandas T., O'Brien W. E., Beaudet A. L. Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet. 1984 Sep;36(5):954–964. [PMC free article] [PubMed] [Google Scholar]
- 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]
- Wolf U. XY gonadal dysgenesis and the H-Y antigen. Report on 12 cases. Hum Genet. 1979 Apr 5;47(3):269–277. doi: 10.1007/BF00321019. [DOI] [PubMed] [Google Scholar]
- Zuffardi O., Maraschio P., Lo Curto F., Müller U., Giarola A., Perotti L. The role of Yp in sex determination: new evidence from X/Y translocations. Am J Med Genet. 1982 Jun;12(2):175–184. doi: 10.1002/ajmg.1320120207. [DOI] [PubMed] [Google Scholar]
- de la Chapelle A. Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet. 1972 Jan;24(1):71–105. [PMC free article] [PubMed] [Google Scholar]
- van Niekerk W. A., Retief A. E. The gonads of human true hermaphrodites. Hum Genet. 1981;58(1):117–122. doi: 10.1007/BF00284158. [DOI] [PubMed] [Google Scholar]