Skip to main content
SpringerLink
Log in

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

  • Original Article
  • Published:
Journal of Molecular Medicine Aims and scope Submit manuscript

Abstract.

We have recently mapped the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and cardiovascular system, to chromosome 16p13.1. Here we report further data on the fine-mapping and genomic structure of this locus. Haplotype analysis of informative PXE families narrowed the locus to an interval of less than 500 kb located between markers D16B9621 and D16S764. Three overlapping YAC clones were found to cover this region through YAC-STS content mapping. An overlapping BAC contig was then constructed to cover this interval and the surrounding region. About 80% of this chromosomal region has been fully sequenced using the BAC shotgun technique. Gene content and sequence analysis predicted four genes (MRP1, MRP6, PM5, and a novel transcript) and two pseudogenes (ARA and PKD1) within this interval. By screening a somatic cell hybrid panel we were able to precision-map the breakpoint of Cy185 and the starting point of a chromosomal duplication within 20 kb of BAC A962B4. The present data further refine the localization of PXE, provide additional physical cloning resources, and will aid in the eventual identification of the genetic defect causing PXE.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

  1. Department of Cardiology, Children's Hospital, Cardiovascular Division, Brigham and Women's Hospital, Departments of Cardiology and Medicine, Harvard Medical School, Boston, MA 02115, USA, USA

    Li Cai, Berthold Struk, Wan Ji, Tianhua Niu, Joon Chung, Karsten Lunze, Bradford Verrecchia & Klaus Lindpaintner

  2. Department of Dermatology, Health Sciences Center, Texas Tech University, Lubbock, TX 79430, USA, USA

    Kenneth H. Neldner

  3. Institute for Genomic Research, 9712 Medical Center Drive, Rockville, MD 20850, USA, USA

    Mark D. Adams

  4. Caltech Genome Research Laboratory, Division of Biology, California Institute of Technology, Pasadena, CA 91125, USA, USA

    Hyung-Lyun Kang, So Hee Dho, Xuequn Xu & Ung-Jin Kim

  5. Life Sciences Division and Center for Human Genome Studies, Los Alamos National Laboratory, Los Alamos, NM 87545, USA, USA

    Norman A. Doggett

  6. Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, 71 King William Road, North Adelaide S.A. 5006, Australia, Australia

    Julie Nancarrow, Robert Richards & David F. Callen

  7. Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA, USA

    Franziska Ringpfeil & Jouni Uitto

  8. Department of Dermatology, Mount Sinai School of Medicine, New York, NY 10029, USA, USA

    Mark Lebwohl

  9. Department of Human Genetics, Medical School, University of Cape Town, Observatory 7925, South Africa, South Africa

    Raj Ramesar

  10. Department of Ophthalmology, Mount Sinai School of Medicine, New York, NY 10029, USA, USA

    Wayne Fuchs

  11. Department of Dermatology, University of Lausanne, 1011 Lausanne, Switzerland, Switzerland

    Stéphanie Zäch & Daniel Hohl

  12. Department of Dermatology, University of Rochester, Rochester, NY 14642, USA, USA

    Lori Schaen & Lowell A. Goldsmith

  13. Divisions of Genetics and Molecular Medicine, CIBO-IMSS, University of Guadalajara Medical School, Guadalajara, Jal Mexico, Mexico

    Luis E. Figuera

  14. South African Institute for Medical Research, Johannesburg, South Africa

    Denis Viljoen

  15. Max Plank Institute for Molecular Genetics, Berlin, Germany, Germany

    Thomas Haaf

  16. Human Genetics Institute, Otto von Guericke University, Magdeburg, Germany, Germany

    Markus Stumm

Authors
  1. Li Cai
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Berthold Struk
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mark D. Adams
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Wan Ji
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Thomas Haaf
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Hyung-Lyun Kang
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. So Hee Dho
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Xuequn Xu
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Franziska Ringpfeil
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Julie Nancarrow
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Stéphanie Zäch
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Lori Schaen
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Markus Stumm
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Tianhua Niu
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. Joon Chung
    View author publications

    You can also search for this author in PubMed Google Scholar

  16. Karsten Lunze
    View author publications

    You can also search for this author in PubMed Google Scholar

  17. Bradford Verrecchia
    View author publications

    You can also search for this author in PubMed Google Scholar

  18. Lowell A. Goldsmith
    View author publications

    You can also search for this author in PubMed Google Scholar

  19. Denis Viljoen
    View author publications

    You can also search for this author in PubMed Google Scholar

  20. Luis E. Figuera
    View author publications

    You can also search for this author in PubMed Google Scholar

  21. Wayne Fuchs
    View author publications

    You can also search for this author in PubMed Google Scholar

  22. Mark Lebwohl
    View author publications

    You can also search for this author in PubMed Google Scholar

  23. Jouni Uitto
    View author publications

    You can also search for this author in PubMed Google Scholar

  24. Robert Richards
    View author publications

    You can also search for this author in PubMed Google Scholar

  25. Daniel Hohl
    View author publications

    You can also search for this author in PubMed Google Scholar

  26. Raj Ramesar
    View author publications

    You can also search for this author in PubMed Google Scholar

  27. David F. Callen
    View author publications

    You can also search for this author in PubMed Google Scholar

  28. Ung-Jin Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  29. Norman A. Doggett
    View author publications

    You can also search for this author in PubMed Google Scholar

  30. Kenneth H. Neldner
    View author publications

    You can also search for this author in PubMed Google Scholar

  31. Klaus Lindpaintner
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Electronic Publication

Rights and permissions

Reprints and permissions

About this article

Cite this article

Cai, L., Struk, B., Adams, M. et al. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med 78, 36–46 (2000). https://doi.org/10.1007/s001090000079

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s001090000079

Search

Navigation