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:

Multiple self–healing squamous epitheliomata (ESS1) mapped to chromosome 9q22–q31 in families with common ancestry

Abstract

A gene (ESS 1) predisposing to the development of multiple invasive but self–healing skin tumours (squamous cell epitheliomata) is tightly linked to the polymorphic DNA marker D9S53 (9q31) with a maximum lod score of 9.02 at a recombination fraction of 0.03. Multipoint linkage analysis demonstrates that the disease locus is most likely to lie between D9S58 (9q22.3–31) and ASSP3 (9q11–q22). Comparison of markers associated with ESS1 in independently ascertained families suggests a common origin of the disease and defines the location of ESS1. Haplotype studies indicate that the disease locus is most likely to lie between D9S29 (9q31) and D9S1 (9q22.1–q22.2).

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

Access options

Buy this article

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

Similar content being viewed by others

References

  1. Ferguson-Smith, J. Multiple primary, self-healing epithelioma of the skin. Br. J. Derm. 60, 315–318 (1948).

    Article  Google Scholar 

  2. Ferguson-Smith, M.A., Wallace, D.C., James, Z.H. & Renwick, J.H. Multiple self-healing squamous epithelioma. Birth Defects Original Articles Series. VII, 157–163 (1971).

  3. Ferguson-Smith, J. A case of multiple primary squamous-celled carcinomata of the skin in a young man with, with spontaneous healing. Brit. J. Derm. 46, 267–272 (1934).

    Article  Google Scholar 

  4. Furlong, R.A. et al. A dinucleotide repeat polymorphism at the D9S109 locus. Nucl. Acids Res. 20, 925 (1992).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Lyall, J.E.W. et al. A dinucleotide repeat polymorphism at the D9S127 locus. Nucl. Acids Res. 20, 925 (1992).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Yuille, M.A.R., Leversha, M., Goudie, D.R., Affara, N.A. & Ferguson-Smith, M.A. Microsatellite polymorphism at the D9S12 locus. Nucl. Acids Res. 19, 5097 (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Yuille, M.A.R., Goudie, D.R., Affara, N.A. and Ferguson-Smith, M.A. An additional polymorphism at a chromosome 9 reference locus. Hum. molec. Genet. 1, 351 (1992).

    Article  CAS  PubMed  Google Scholar 

  8. Yuille, M.A.R., Goudie, D.R., Affara, N.A. & Ferguson-Smith, M.A. Tetranucleotide microsatellite polymorphism at ALDOB on chromosome 9q. Annals hum. Genet. 56, 213–214 (1992).

    Google Scholar 

  9. Kwiatkowski, D.J. et al. Construction of a GT polymorphism map of human 9q. Genomics 12, 229–240 (1992).

    Article  CAS  PubMed  Google Scholar 

  10. Daiger, S.P., Hoffman, N.S., Wildin, R.S. & Su, T.S. Multiple independent restriction site polymorphisms in human DNA detected with a cDNA probe argininosuccinate synthetase (AS). Am. J. hum. Genet. 36, 736–749 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  11. Naylor, S.L., Sakaguchi, A.Y., Barker, D., White, R. & Shows, T.B. DNA polymorphic loci mapped to human chromosome 9,11,17,18 and 22. Proc. natn. Acad. Sci. U.S.A. 81, 2447–2451 (1984).

    Article  CAS  Google Scholar 

  12. NIH/CEPH Collaborative Mapping Group. A comprehensive genetic linkage map of the human genome. Science 258, 67–86 (1992).

  13. Lathrop, M. et al. A mapped set of genetic markers for human chromosome 9. Genomics 3, 361–366 (1988).

    Article  CAS  PubMed  Google Scholar 

  14. Farndon, P.A., Del Mastro, R.G., Evans, D.G.R. & Kilpatrick, M.W. Location of gene for Gorlin Syndrome. Lancet 339, 581–582 (1992).

    Article  CAS  PubMed  Google Scholar 

  15. Gailani, M. et al. Developmental defects in Gorlin Syndrome related to a putative tumour suppressor gene on chromosome 9. Cell 69, 111–117 (1992).

    Article  CAS  PubMed  Google Scholar 

  16. Reis et al. Localisation of the gene for the naevoid basal-cell carcinoma syndrome. Lancet 339, 617 (1992).

    Article  CAS  PubMed  Google Scholar 

  17. Ott, J. A computer program for linkage analysis of general human pedigrees. Am. J. hum. Genet. 28, 528–529 (1976).

    CAS  PubMed  PubMed Central  Google Scholar 

  18. Lathrop, G.M. & Lalouel, J.M. Easy calculation of lod scores and genetic risks on small computers. Am. J. hum. Genet. 36, 460–465 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Dauset, J. et al. Centre d'Etude du Polymorphisme Humain (CEPH): Collaborative Genetic Mapping of the Human Genome. Genomics 6, 575–577 (1990).

    Article  Google Scholar 

  20. Lander, E.S. et al. An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics 1, 174–181 (1987).

    Article  CAS  PubMed  Google Scholar 

  21. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning 2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989).

    Google Scholar 

  22. Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. hum. Genet. 44, 388–396 (1989).

    CAS  PubMed  PubMed Central  Google Scholar 

  23. Pandolfo, M., Wagner, C. & Smith, M. An anonymous DNA probe (LAMP92) detects a Pvull polymorphism on human chromosome 9. Nucl. Acids Res. 16, 7213 (1988).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Donis-Keller, H. et al. A genetic map of the human genome. Cell 51, 319–337 (1987).

    Article  CAS  PubMed  Google Scholar 

  25. Povey, S. et al. Report of the first international workshop on chromosome 9. Annals hum. Genet. (in the press).

  26. Cotter, F., Nasipuri, S., Lam, G. & Young, B.D. Gene mapping by enzymatic amplification from flow sorted chromosomes. Genomics 5, 470–474 (1989).

    Article  CAS  PubMed  Google Scholar 

  27. Carter, N.P., Hampson, R.M., Harris, R.M., Yates, J.R.W. & Ferguson-Smith, M.A. Gene mapping using flow-sorted dot blots of human chromosomes. Trans. Roy. Microscop. Soc. 1, 511–514 (1991).

    Google Scholar 

  28. Anand, R., Villasante, A. & Tyler-Smith, C. Construction of yeast artificial libraries with large inserts using fractionation by pulsed-field gel electrophoresis. Nucl. Acids Res. 17, 3425–3433 (1989).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Langer, P.R., Waldrop, A.A. & Ward, D.C. Enzymatic synthesis of biotin labelled polynucleotide: novel nucleic acid affinity probes. Proc. natn. Acad. Sci. U.S.A. 78, 6633–6637 (1981).

    Article  CAS  Google Scholar 

  30. Viegas-Pequinot, E., Dubrilleaux, B., Magdelenat, H. & Coppey-Moisan, M. Mapping of single copy DNA sequences on human chromosomes by in situ hybridisation with biotinylated probes: Enhancement of detection sensitivity by intensified digital imaging microscopy. Proc. natn. Acad. Sci. U.S.A. 86, 582–586 (1989).

    Article  Google Scholar 

  31. Kievits, T. et al. Direct non-radioactive in situ hybridisation of somatic cell hybrid DNA to human lymphocyte chromosomes. Cytometry 11, 105–109 (1990).

    Article  CAS  PubMed  Google Scholar 

  32. Fan, Y.-S., Davis, L.M. & Shows, T.B. Mapping small DNA sequences by fluorescence in situ hybridisation directly onto banded metaphase chromosomes. Proc. natn Acad. Sci. U.S.A. 87, 6223–6227 (1990).

    Article  CAS  Google Scholar 

  33. Wilkie, P.J., Krisman, D.B. & Weber, J.L. Linkage map of human chromosome 9 microsatellite polymorphisms. Genomics 12, 607–610 (1992).

    Article  CAS  PubMed  Google Scholar 

  34. Board, P.G., Jones, I.M. & Bentley, A.K. Molecular cloning and nucleotide sequence of human α1 acid glycoprotein cDNA. Gene 44, 127–131 (1986).

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Goudie, D., Yuille, M., Leversha, M. et al. Multiple self–healing squamous epitheliomata (ESS1) mapped to chromosome 9q22–q31 in families with common ancestry. Nat Genet 3, 165–169 (1993). https://doi.org/10.1038/ng0293-165

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0293-165

This article is cited by

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