Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

Nature Genetics volume 4, pages 170–174 (1993)Cite this article

Abstract

We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3–q25.1 by three independent apparently balanced de novo reciprocal translocations. Chromosome painting indicates that the translocated segment of 17q involves about 15% of chromosome 17 in all three translocations, corresponding to a breakpoint at the interphase between 17q24–q25. All three 17q breakpoints were localized distal to the growth hormone locus (GH), and proximal to thymidine kinase (TK1). Due to the distal location of the breakpoints, previously mentioned candidate genes, HOX2 and COL1A1, can be excluded as being involved in CMPD1/SRA1. The mouse mutant tail–short (Ts) which maps to the homologous syntenic region on mouse chromosome 11, displays some of the features of CMPD1.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Berta, P. et al. Genetic evidence equating SRY and the testis-determining factor. Nature 348, 448–450 (1990).

    Article  CAS  PubMed  Google Scholar 

  2. Jäger, R.J. et al. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348, 452–454 (1990).

    Article  PubMed  Google Scholar 

  3. 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 

  4. Gubbay, J. et al. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346, 245–250 (1990).

    Article  CAS  PubMed  Google Scholar 

  5. Koopman, P., Münsterberg, A., Capel, B., Vivian, N. & Lovell-Badge, R. Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348, 450–452 (1990).

    Article  CAS  PubMed  Google Scholar 

  6. 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. 58, 91–97 (1981).

    Article  CAS  PubMed  Google Scholar 

  7. Houston, C.S. et al. The campomelic syndrome: review, report of 17 cases, and followup on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am. J. med. Genet. 15, 3–28 (1983).

    Article  CAS  PubMed  Google Scholar 

  8. Ebensperger, C. et al. No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. Ann. Génét. 34, 233–238 (1991).

    CAS  PubMed  Google Scholar 

  9. Maraia, R., Saal, H.M. & Wangsa, D. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. Clin. Genet. 39, 401–408 (1991).

    Article  CAS  PubMed  Google Scholar 

  10. Young, I.D., Zuccollo, J.M., Maltby, E.L. & Broderick, N.J. Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J. med. Genet. 29, 251–252 (1992).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Cooke, C.T. et al. Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case. Pathology 17, 526–529 (1985).

    Article  CAS  PubMed  Google Scholar 

  12. Engel, W., Reinwein, H., Bombel, D., Ritter, H. & Wolf, U. Multiple Missbildungen bei einem Mädchen mit dem Karyotypus 46,XY,17q+. Humangenetik 6, 311–325 (1968).

    CAS  PubMed  Google Scholar 

  13. Reinwein, H. & Wolf, U. Radiological examinations of patients with autosomal aberrations. Ann. Radiol. 10, 311–316 (1967).

    CAS  PubMed  Google Scholar 

  14. Lindgren, F. & Ringertz, H. Campomelic syndrome without “Campomelia”. Ann. Radiol. 23, 168 (1980).

    Google Scholar 

  15. Bricarelli, F.D. et al. Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum. Genet. 57, 15–22 (1981).

    Article  CAS  PubMed  Google Scholar 

  16. Friedrich, U., Schaefer, E. & Meinecke, P. Campomelic dysplasia without overt campomelia. Clin. Dysmorphol. 1, 172–178 (1992).

    Article  CAS  PubMed  Google Scholar 

  17. MacPherson, R.I., Skinner, S.A. & Donnenfeld, A.E. Acampomelic campomelic dysplasia. Pediatr. Radiol. 20, 90–93 (1989).

    Article  CAS  PubMed  Google Scholar 

  18. Sørensen, P.D., Lomholt, B. & Frederiksen, B., Tommerup, N. Fine mapping of human 5S rRNA genes to chromosome region 1q42.11–42.13. Cytogenet. cell Genet. 57, 26–9 (1991).

    Article  PubMed  Google Scholar 

  19. ISCN: An International System for Human Cytogenetic Nomenclature (eds Harnden, D.G. & Klinger, H.P.). 1–117 (Karger, Basel, 1985).

  20. Carter, N.P. et al. Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical analysis. J. med. Genet. 29, 299–307 (1992).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Polymeropoulos, M.H., Rath, D.S., Xiao, H. & Merril, C.R. A simple sequence repeat polymorphism at the human growth hormone locus. Nucl. Acids Res. 19, 689 (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Solomon, E. & Ledbetter, D.H. Report of the committee on the genetic constitution of chromosome 17. Cytogenet. cell Genet. 58, 686–738 (1991).

    Article  Google Scholar 

  23. Fain, P.R. Third international workshop on human chromosome 17 mapping. Cytogenet. cell Genet. 60, 177–186 (1992).

    Article  Google Scholar 

  24. Bridge, J. et al. Partial deletion of distal 17q. Am. J. med. Genet. 21, 225–229 (1985).

    Article  CAS  PubMed  Google Scholar 

  25. Giannotti, A. et al. Partial deletion of the long arm of chromosome 17. Clinical case. Minerva Pediatr. 44, 51–54 (1992).

    CAS  PubMed  Google Scholar 

  26. Luke, S., Bennett, H.S., Pitter, J.H. & Verma, R.S. A new case of monosomy for 17q25–qter due to a maternal translocation [t(3; 17)(p12;q24)]. Ann Génét. 35, 48–50 (1992).

    CAS  PubMed  Google Scholar 

  27. Schimke, R.N. XY sex-reversed campomelia — possible an X-linked disorder? Clin. Genet. 16, 62–63 (1979).

    Article  CAS  PubMed  Google Scholar 

  28. McKusick, V.A., Inheritance in Man. 10th edn 1262–1263 (Johns Hopkins University Press, Baltimore, 1992).

    Google Scholar 

  29. Kuwano, A. et al. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. hum. Genet. 49, 707–714 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  30. Frezal, J. & Schinzel, A. Report of the committee on clinical disorders and chromosomal deletion syndromes (Human Gene Mapping 11). Cytogenet. cell Genet. 58, 986–1052 (1991).

    Article  Google Scholar 

  31. Lenzini, E. et al. Partial duplication of 17 long arm. Ann. Genet. 31, 175–180 (1988).

    CAS  PubMed  Google Scholar 

  32. Schmickel, R.D. Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr. 109, 231–241 (1986).

    Article  CAS  PubMed  Google Scholar 

  33. Chandley, A.C. On the parental origin of de novo mutation in man. J. med. Genet. 28, 217–23 (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Buchberg, A.M., Buckwalter, M.S. & Camper, S.A. Mouse chromosome 11. Mamm. Genome 3, S162–S181 (1992).

    Article  CAS  PubMed  Google Scholar 

  35. Morgan, W.C. A new tail-short mutation in the mouse. J. Hered. 41, 208–215 (1950).

    Article  CAS  PubMed  Google Scholar 

  36. Deol, M.S. Genetical studies on the skeleton of the mouse. XXVIII. Tail-short. Proc. R. Soc. Lond. 155, 78–95 (1961).

    Google Scholar 

  37. Collins, F.S. Positional cloning: Let's not call it reverse anymore. Nature Genet. 1, 3–6 (1992).

    Article  CAS  PubMed  Google Scholar 

  38. Fannemel, M., Riise, R., Lofterød, B. & Tommerup, N. High-resolution chromosome analysis in autosomal recessive disorders. Laurence-Moon-Bardet-Biedl syndrome. Clin. Genet. 43, 111–112 (1993).

    Article  CAS  PubMed  Google Scholar 

  39. Schempp, W. & Meer, B. Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum. Genet. 63, 171–174 (1983).

    Article  CAS  PubMed  Google Scholar 

  40. Lichter, P. et al. Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines. Proc. natn. Acad. Sci. U.S.A. 87, 6634–6638 (1990).

    Article  CAS  Google Scholar 

  41. Silahtaroglu, N., Türner, Z., Kristensen, T., Sottrup-Jensen, L. & Tommerup, N. Assignment of PAPPA to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes. Cytogenet. cell Genet. 62, 214–216 (1993).

    Article  CAS  PubMed  Google Scholar 

  42. van den Engh, G.J., Trask, B., Gray, J.W., Langlois, P. & Yu, L.C. Preparation and bivariate abnalysis of suspensions of human chromosomes. Cytometry 6, 92–100 (1985).

    Article  CAS  PubMed  Google Scholar 

  43. van den Engh, G., Trask, B., Lansdorp, P. & Gray, J. Improved resolution of flow cytometric measurements of Hoechst- and chromomycin A3 stained human chromosomes after addition of citrate and sulfite. Cytometry 9, 266–270 (1988).

    Article  CAS  PubMed  Google Scholar 

  44. Williamson, R. et al. Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms. Human Gene Mapping 11. Cytogenet. cell Genet. 58, 1190–1832 (1991).

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. The Danish Center for Human Genome Research, The John F. Kennedy Institute, Gl. Landevej 7, DK–2600, Glostrup, Denmark

    N. Tommerup & P. Guldberg

  2. Department of Medical Genetics, Ullevaal University Hospital Oslo, Norway

    N. Tommerup & C. Goodpasture

  3. Institute of Human Genetics, University of Freiburg, Germany

    W. Schempp, G. Scherer, R. Toder & U. Wolf

  4. Division of Clinical Genetics, Altona Childrens Hospital, Hamburg, Germany

    P. Meinecke

  5. Institute of Human Genetics, University of Aarhus, Denmark

    S. Pedersen, L. Bolund & C. Brandt

  6. Institute of Human Genetics, University of Hamburg, Germany

    K.R. Held

  7. Horbenerstr. 10, D–7800, Freiburg, Germany

    H. Reinwein

  8. Department of Pediatrics, The National Hospital, Oslo, Norway

    O.D. Saugstad & O. Skjeldal

  9. Department of Pediatric Radiology, The National Hospital, Oslo, Norway

    J. Westvik

  10. Institute of Medical Genetics, University of Oslo, Norway

    C.B. van der Hagen

Authors
  1. N. Tommerup
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. W. Schempp
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. P. Meinecke
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. Pedersen
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. L. Bolund
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C. Brandt
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. C. Goodpasture
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. P. Guldberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. K.R. Held
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. H. Reinwein
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. O.D. Saugstad
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. G. Scherer
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. O. Skjeldal
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. R. Toder
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. J. Westvik
    View author publications

    You can also search for this author in PubMed Google Scholar

  16. C.B. van der Hagen
    View author publications

    You can also search for this author in PubMed Google Scholar

  17. U. Wolf
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tommerup, N., Schempp, W., Meinecke, P. et al. Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1. Nat Genet 4, 170–174 (1993). https://doi.org/10.1038/ng0693-170

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0693-170

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing