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Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp

Nature Genetics volume 6, pages 394–400 (1994)Cite this article

Abstract

The pseudoautosomal boundaries are the interface between pseudoautosomal and sex chromosome–specific DNA sequences. We have isolated a gene, PBDX, from the human pseudoautosomal boundary region of Xp. The three exons at the 5′ end of PBDX are situated in the pseudoautosomal region immediately downstream of MIC2, whereas the other seven exons are in the X–speciflc region. Hence, PBDX is inherited in two modes: its 5′ end is pseudoautosomally inherited and its 3′ end is X–linked. The predicted amino acid sequence of the 540 bp coding region is 48% homologous to 12E7, the product of MIC2. By virtue of its position, PBDX becomes an excellent candidate for the XG blood group gene.

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References

  1. Burgoyne, P.S. Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum. Genet. 61, 85–90 (1982).

    Article  CAS  PubMed  Google Scholar 

  2. Ellis, N. & Goodfellow, P.N. The mammalian pseudoautosomal region. Trends Genet. 5, 406–410 (1989).

    Article  CAS  PubMed  Google Scholar 

  3. Cooke, H.J., Brown, W.R.A. & Rappold, G.A. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317, 687–692 (1985).

    Article  CAS  PubMed  Google Scholar 

  4. Simmler, M.-C. et al. Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 317, 692–697 (1985).

    Article  CAS  PubMed  Google Scholar 

  5. Freije, D., Helms, C., Watson, M.S. & Donis-Keller, H. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 258, 1784–1787 (1992).

    Article  CAS  PubMed  Google Scholar 

  6. Rouyer, F. et al. A gradient of sex linkage in the pseudoautosomal region of the human sex chromsomes. Nature 319, 291–295 (1986).

    Article  CAS  PubMed  Google Scholar 

  7. Page, D.C. et al. Linkage, physcial mapping, and DNA sequence analysis of pseudoautsomal loci on the human X and Y chromosomes. Genomics 1, 243–256 (1987).

    Article  CAS  PubMed  Google Scholar 

  8. Brown, W.R.A. A physical map of the human pseudosutosomal region. EMBO J. 7, 2377–2385 (1988).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Petit, C., Levilliers, J. & Weissenbach, J. Physical mapping of the human pseudoautosomal region; comparison with the genetic linkage map. EMBO J. 7, 2369–2376 (1988).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Rappold, G.A. & Lehrach, H. A long range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere. Nucl. Acids Res. 16, 5361–5377 (1988).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Gabriel-Robez, O. et al. Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation. Cytogenet. cell Genet. 54, 38–42 (1990).

    Article  CAS  PubMed  Google Scholar 

  12. Mohandas, T.K. et al. Role of the psuedoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Cell 51, 526–533 (1992).

    CAS  Google Scholar 

  13. Hassold, T.J., Sherman, S.L., Pettay, D., Page, D.C. & Jacobs, P.A. XY chromosome nondisjunction in man is associated with diminished recombination in the pseusoautosomal region. Am. J. hum. Genet. 49, 253–60 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  14. 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 328, 273–275 (1987).

    Article  CAS  PubMed  Google Scholar 

  15. Ellis, N.A. et al. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature 337, 81–84 (1989).

    Article  CAS  PubMed  Google Scholar 

  16. Ellis, N., Yen, P., Neiswanger, K., Shapiro, L.J. & Goodfellow, P.N. Evolution of the pseudoautosomal boundary in Old World monkeys and great apes. Cell 63, 977–986 (1990).

    Article  CAS  PubMed  Google Scholar 

  17. Ferguson-Smith, M.A., Sanger, R., Tippett, P., Aitken, D.A. & Boyd, E. A familial t(X;Y) translocation which assigns the Xg blood group locus to the region Xp22.3->pter. Cytogenet. Cell Genet. 32, 273–274 (1982).

    Google Scholar 

  18. Yates, J.R.W. et al. Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers. Genomics 1, 52–59 (1987).

    Article  CAS  PubMed  Google Scholar 

  19. Goodfellow, P.N. & Tippett, P. A human quantitative polymorphism related to Xg blood groups. Nature 289, 404–405 (1981).

    Article  CAS  PubMed  Google Scholar 

  20. Goodfellow, P.J., Pritchard, C.A., Tippett, P. & Goodfellow, P.N. Recombination between the X and Y chromosomes: implications for the relationship between MIC2, XG, and YG. Ann. hum. Genet. 51, 161–167 (1987).

    Article  CAS  PubMed  Google Scholar 

  21. von Heijne, G. Signal sequences. The limits of variation. J. molec. Biol. 184, 99–105 (1985).

    Article  CAS  PubMed  Google Scholar 

  22. Race, R.R. & Sanger, R. in Blood groups in man 578–593 (Oxford, Blackwell Scientific, 1975).

    Google Scholar 

  23. Banting, G.S., Pym, B., Darling, S.M. & Goodfellow, P.N. The MIC2 gene product: Epitope mapping and structural prediction analysis define an integral membrane protein. Molec. Immunol. 26, 181–188 (1989).

    Article  CAS  Google Scholar 

  24. Gelin, C. et al. The E2 antigen, a 32 kd glycoprotein involved in T-cell adhesion processes, is the MIC2 gene product. EMBO J. 8, 3235–3239 (1989).

    Article  Google Scholar 

  25. Yen, P.H. et al. The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 55, 1123–1135 (1988).

    Article  CAS  PubMed  Google Scholar 

  26. Fisher, E.M., Alitalo, T., Luoh, S.W., de la Chapelle, A. & Page, D.C. Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq homology. Genomics 7, 625–628 (1990).

    Article  CAS  PubMed  Google Scholar 

  27. Affara, N.A. et al. Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chrornosome and autosomal sequences. Nucl. Acids Res. 14, 5353–5373 (1986).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Pritchard, C.A., Goodfellow, P.J. & Goodfellow, P.N. Isolation of a sequence which maps to the human sex determining region. Nucl. Acids Res. 15, 6159–6169 (1987).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Sinclair, A.H. et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346, 240–244 (1990).

    Article  CAS  PubMed  Google Scholar 

  30. Foley, G.E. et al. Continuous culture of human lymphoblasts from peripheral blood of a child with acute leukemia. Cancer 18, 522–529 (1965).

    Article  CAS  PubMed  Google Scholar 

  31. Feinberg, A.P. & Vogelstein, B. A technique for radiolabeling DNA restriction endonclease fragments to high specific activity. Anal. Biochem. 132, 6–13 (1983).

    Article  CAS  PubMed  Google Scholar 

  32. Ish-Horowicz, D. & Burke, J.F. Rapid and efficient cosmid cloning. Nucl. Acids Res. 9, 2989–2998 (1981).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Bimboim, H.C. & Doly, J. A rapid extraction procedure for screening recombinant plasmid DNA. Nucl. Acids Res. 7, 1513–1523 (1979).

    Article  Google Scholar 

  34. Grossberger, D. Minipreps of DNA from bacteriophage lambda. Nucl. Acids Res. 15, 6737 (1987).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  35. Davis, R. et al. Rapid DNA isolations for enzymatic and hybridization analysis. Meth. Enzymol. 65, 404–411 (1980).

    Article  CAS  Google Scholar 

  36. Sambrook, J., Fritsch, E.F. & Maniatis, T. in Molecular Cloning: A Laboratory Manual, 7.19 (Cold Spring Harbor Laboratory Press, New York, 1989).

    Google Scholar 

  37. Tabor, S. & Richardson, C.C. DNA sequence analysis with a modified T7 DNA polymerase. Proc. natn. Acad. Sci. U.S.A 84, 4767–4771 (1987).

    Article  CAS  Google Scholar 

  38. Kreitman, M. & Landweber, L.F. A strategy for producing single-stranded DNA in the polyermase chain reaction. Gene Anal. Techn. 6, 84–88 (1989).

    Article  CAS  Google Scholar 

  39. Andrews, P.W. et al. Pluripotent embryonal carcinoma clones derived from the human teratocarcinoma cell line Tera-2: differentiation in vivo and in vitro. Lab. Invest. 50, 147–162 (1984).

    CAS  PubMed  Google Scholar 

  40. Lelias, J.-M. et al. cDNA cloning of a human mRNA preferentially expressed in hematopoietic cells and with homology to a GDP-dissociation inhibitor for the rho GTP-binding proteins. Proc. natn. Acad. Sci. U.S.A. 90, 1479–1483 (1993).

    Article  CAS  Google Scholar 

  41. Kozak, M. The scanning model for translation: an update. J. Cell Biol. 108, 229–241 (1989).

    Article  CAS  PubMed  Google Scholar 

  42. Wahle, E. The end of the message: 3′-end processing leading to polyadenylated messenger RNA. BioEssays 14, 113–118 (1992).

    Article  CAS  PubMed  Google Scholar 

  43. Dracopoli, N.C. et al. Genes controlling gp 25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am. J. hum. Genet. 37, 199–207 (1985).

    CAS  PubMed  PubMed Central  Google Scholar 

  44. Marcus, M., Trantravahi, R., Dev, J.G., Miller, D.A. & Miller, O.J. Human-mouse cell hybrid with human multiple Y chromosomes. Nature 262, 65–67 (1976).

    Article  Google Scholar 

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Authors and Affiliations

  1. Laboratory of Human Genetics, New York Blood Center, 310 East 67th Street, New York, New York, 10021, USA

    Nathan A. Ellis, Tian-Zhang Ye, Susan Patton & James German

  2. Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, UK

    Peter N. Goodfellow & Polly Weller

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Ellis, N., Ye, TZ., Patton, S. et al. Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nat Genet 6, 394–400 (1994). https://doi.org/10.1038/ng0494-394

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