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. 1992 Sep;29(9):624–628. doi: 10.1136/jmg.29.9.624

Chromosomal localisation of a pseudoautosomal growth gene(s).

T Ogata 1, C Petit 1, G Rappold 1, N Matsuo 1, T Matsumoto 1, P Goodfellow 1
PMCID: PMC1016092  PMID: 1404292

Abstract

Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion in Xp22.3 and review the correlation between genotype and stature in six cases of partial monosomy of the PAR. The results indicate that the region from DXYS20 to DXYS15 is the critical region for the putative growth gene(s).

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Selected References

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  1. 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]
  2. 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]
  3. Bühler E. M. A synopsis of the human Y chromosome. Hum Genet. 1980;55(2):145–175. doi: 10.1007/BF00291764. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. Curry C. J., Magenis R. E., Brown M., Lanman J. T., Jr, Tsai J., O'Lague P., Goodfellow P., Mohandas T., Bergner E. A., Shapiro L. J. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med. 1984 Oct 18;311(16):1010–1015. doi: 10.1056/NEJM198410183111603. [DOI] [PubMed] [Google Scholar]
  6. Ellis N., Taylor A., Bengtsson B. O., Kidd J., Rogers J., Goodfellow P. Population structure of the human pseudoautosomal boundary. Nature. 1990 Apr 12;344(6267):663–665. doi: 10.1038/344663a0. [DOI] [PubMed] [Google Scholar]
  7. Goldman B., Polani P. E., Daker M. G., Angell R. R. Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet. 1982 Jan;21(1):36–52. doi: 10.1111/j.1399-0004.1982.tb02077.x. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. 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]
  10. Henke A., Wapenaar M., van Ommen G. J., Maraschio P., Camerino G., Rappold G. Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet. 1991 Oct;49(4):811–819. [PMC free article] [PubMed] [Google Scholar]
  11. Ikeuchi T. Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet. 1984;38(1):56–61. doi: 10.1159/000132030. [DOI] [PubMed] [Google Scholar]
  12. Koenig M., Camerino G., Heilig R., Mandel J. L. A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm. Nucleic Acids Res. 1984 May 25;12(10):4097–4109. doi: 10.1093/nar/12.10.4097. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Kunkel L. M., Tantravahi U., Kurnit D. M., Eisenhard M., Bruns G. P., Latt S. A. Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res. 1983 Nov 25;11(22):7961–7979. doi: 10.1093/nar/11.22.7961. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Lau Y. F., Kan Y. W. Direct isolation of the functional human thymidine kinase gene with a cosmid shuttle vector. Proc Natl Acad Sci U S A. 1984 Jan;81(2):414–418. doi: 10.1073/pnas.81.2.414. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Middlesworth W., Bertelson C., Kunkel L. M. An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143]. Nucleic Acids Res. 1985 Aug 12;13(15):5723–5723. doi: 10.1093/nar/13.15.5723. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Nishimura S., Masuda H., Matsumoto T., Sakura N., Matsumoto T., Ueda K. Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions. Am J Med Genet. 1991 Sep 1;40(3):260–263. doi: 10.1002/ajmg.1320400303. [DOI] [PubMed] [Google Scholar]
  17. Ogata T., Goodfellow P., Petit C., Aya M., Matsuo N. Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. J Med Genet. 1992 Jul;29(7):455–459. [PMC free article] [PubMed] [Google Scholar]
  18. Ogata T., Matsuo N. Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). J Med Genet. 1992 Aug;29(8):539–541. doi: 10.1136/jmg.29.8.539. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Page D. C., Bieker K., Brown L. G., Hinton S., Leppert M., Lalouel J. M., Lathrop M., Nystrom-Lahti M., de la Chapelle A., White R. Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics. 1987 Nov;1(3):243–256. doi: 10.1016/0888-7543(87)90051-6. [DOI] [PubMed] [Google Scholar]
  20. 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]
  21. 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]
  22. 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]
  23. Ross M. T., Ballabio A., Craig I. W. Long-range physical mapping around the human steroid sulfatase locus. Genomics. 1990 Mar;6(3):528–539. doi: 10.1016/0888-7543(90)90482-a. [DOI] [PubMed] [Google Scholar]
  24. Rouyer F., Simmler M. C., Johnsson C., Vergnaud G., Cooke H. J., Weissenbach J. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature. 1986 Jan 23;319(6051):291–295. doi: 10.1038/319291a0. [DOI] [PubMed] [Google Scholar]
  25. Rouyer F., Simmler M. C., Page D. C., Weissenbach J. A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell. 1987 Nov 6;51(3):417–425. doi: 10.1016/0092-8674(87)90637-4. [DOI] [PubMed] [Google Scholar]
  26. Seabright M. Improvement of trypsin method for banding chromosomes. Lancet. 1973 Jun 2;1(7814):1249–1250. doi: 10.1016/s0140-6736(73)90561-8. [DOI] [PubMed] [Google Scholar]
  27. 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]
  28. Tanner J. M., Whitehouse R. H., Takaishi M. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II. Arch Dis Child. 1966 Dec;41(220):613–635. doi: 10.1136/adc.41.220.613. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Tsuzaki S., Matsuo N., Osano M. The physical growth of Japanese children from birth to 18 years of age. Cross-sectional percentile growth curve for height and weight. Helv Paediatr Acta. 1987 Oct;42(2-3):111–119. [PubMed] [Google Scholar]

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