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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Oct;49(4):811–819.

Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

A Henke 1, M Wapenaar 1, G J van Ommen 1, P Maraschio 1, G Camerino 1, G Rappold 1
PMCID: PMC1683157  PMID: 1897527

Abstract

Short stature is consistently found in individuals with terminal deletions of Xp. In order to refine the localization of a putative locus affecting height, we analyzed two patients with a partial monosomy of the pseudoautosomal region at the molecular level. Eight pseudoautosomal probes were used for the genetic deletion analysis through dose evaluation. Three of them represent new markers (DXS415, DXS419, and DXS406) which were positioned on the pseudoautosomal map by pulsed field gel electrophoresis. Our data suggest that a locus affecting height maps in a region of about 1.5 Mbp, distal to the DXS406 locus and proximal to the DXS415 locus, a region which includes two CpG islands, and rule out an involvement of very distal sequences at the X/Y telomeres.

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Selected References

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  1. Affara N. A., Ferguson-Smith M. A., Magenis R. E., Tolmie J. L., Boyd E., Cooke A., Jamieson D., Kwok K., Mitchell M., Snadden L. Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res. 1987 Sep 25;15(18):7325–7342. doi: 10.1093/nar/15.18.7325. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Ballabio A., Bardoni B., Carrozzo R., Andria G., Bick D., Campbell L., Hamel B., Ferguson-Smith M. A., Gimelli G., Fraccaro M. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A. 1989 Dec;86(24):10001–10005. doi: 10.1073/pnas.86.24.10001. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Ballabio A., Bardoni B., Guioli S., Basler E., Camerino G. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics. 1990 Oct;8(2):263–270. doi: 10.1016/0888-7543(90)90281-x. [DOI] [PubMed] [Google Scholar]
  4. Bird A. P. CpG-rich islands and the function of DNA methylation. Nature. 1986 May 15;321(6067):209–213. doi: 10.1038/321209a0. [DOI] [PubMed] [Google Scholar]
  5. Brown W. R. A physical map of the human pseudoautosomal region. EMBO J. 1988 Aug;7(8):2377–2385. doi: 10.1002/j.1460-2075.1988.tb03082.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Cooke H. J., Smith B. A. Variability at the telomeres of the human X/Y pseudoautosomal region. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 1):213–219. doi: 10.1101/sqb.1986.051.01.026. [DOI] [PubMed] [Google Scholar]
  7. 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]
  8. Fisher E. M., Beer-Romero P., Brown L. G., Ridley A., McNeil J. A., Lawrence J. B., Willard H. F., Bieber F. R., Page D. C. Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell. 1990 Dec 21;63(6):1205–1218. doi: 10.1016/0092-8674(90)90416-c. [DOI] [PubMed] [Google Scholar]
  9. Geller R. L., Shapiro L. J., Mohandas T. K. Fine mapping of the distal short arm of the human X chromosome using X/Y translocations. Am J Hum Genet. 1986 Jun;38(6):884–890. [PMC free article] [PubMed] [Google Scholar]
  10. Goodfellow P. J., Mondello C., Darling S. M., Pym B., Little P., Goodfellow P. N. Absence of methylation of a CpG-rich region at the 5' end of the MIC2 gene on the active X, the inactive X, and the Y chromosome. Proc Natl Acad Sci U S A. 1988 Aug;85(15):5605–5609. doi: 10.1073/pnas.85.15.5605. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Goodfellow P., Banting G., Sheer D., Ropers H. H., Caine A., Ferguson-Smith M. A., Povey S., Voss R. Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature. 1983 Mar 24;302(5906):346–349. doi: 10.1038/302346a0. [DOI] [PubMed] [Google Scholar]
  12. Gough N. M., Gearing D. P., Nicola N. A., Baker E., Pritchard M., Callen D. F., Sutherland G. R. Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature. 1990 Jun 21;345(6277):734–736. doi: 10.1038/345734a0. [DOI] [PubMed] [Google Scholar]
  13. Herrmann B. G., Barlow D. P., Lehrach H. A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion. Cell. 1987 Mar 13;48(5):813–825. doi: 10.1016/0092-8674(87)90078-x. [DOI] [PubMed] [Google Scholar]
  14. Herrmann B., Bućan M., Mains P. E., Frischauf A. M., Silver L. M., Lehrach H. Genetic analysis of the proximal portion of the mouse t complex: evidence for a second inversion within t haplotypes. Cell. 1986 Feb 14;44(3):469–476. doi: 10.1016/0092-8674(86)90468-x. [DOI] [PubMed] [Google Scholar]
  15. Kalousek D., Schiffrin A., Berguer A. M., Spier P., Guyda H., Colle E. Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature. J Pediatr. 1979 Jun;94(6):891–894. doi: 10.1016/s0022-3476(79)80208-5. [DOI] [PubMed] [Google Scholar]
  16. Levilliers J., Quack B., Weissenbach J., Petit C. Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. Proc Natl Acad Sci U S A. 1989 Apr;86(7):2296–2300. doi: 10.1073/pnas.86.7.2296. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Mondello C., Ropers H. H., Craig I. W., Tolley E., Goodfellow P. N. Physical mapping of genes and sequences at the end of the human X chromosome short arm. Ann Hum Genet. 1987 May;51(Pt 2):137–143. doi: 10.1111/j.1469-1809.1987.tb01055.x. [DOI] [PubMed] [Google Scholar]
  18. Page D. C., Fisher E. M., McGillivray B., Brown L. G. Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature. 1990 Jul 19;346(6281):279–281. doi: 10.1038/346279a0. [DOI] [PubMed] [Google Scholar]
  19. Page D. C., Mosher R., Simpson E. M., Fisher E. M., Mardon G., Pollack J., McGillivray B., de la Chapelle A., Brown L. G. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 1987 Dec 24;51(6):1091–1104. doi: 10.1016/0092-8674(87)90595-2. [DOI] [PubMed] [Google Scholar]
  20. Petit C., Levilliers J., Weissenbach J. Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map. EMBO J. 1988 Aug;7(8):2369–2376. doi: 10.1002/j.1460-2075.1988.tb03081.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Petit C., Melki J., Levilliers J., Serville F., Weissenbach J., Maroteaux P. An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. Hum Genet. 1990 Jul;85(2):247–250. doi: 10.1007/BF00193206. [DOI] [PubMed] [Google Scholar]
  22. Rappold G. A., Lehrach H. A long range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere. Nucleic Acids Res. 1988 Jun 24;16(12):5361–5377. doi: 10.1093/nar/16.12.5361. [DOI] [PMC free article] [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. Wapenaar M. C., Kievits T., Meera Khan P., Pearson P. L., Van Ommen G. J. Isolation and characterization of cell hybrids containing human Xp-chromosome fragments. Cytogenet Cell Genet. 1990;54(1-2):10–14. doi: 10.1159/000132945. [DOI] [PubMed] [Google Scholar]
  25. 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]
  26. 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]
  27. van den Berghe H., Petit P., Fryns J. P. Y to X translocation in man. Hum Genet. 1977 Apr 15;36(2):129–141. doi: 10.1007/BF00273251. [DOI] [PubMed] [Google Scholar]

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