Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene

DOI Web Site 被引用文献111件
  • Farida Latif
    Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.
  • Kalman Tory
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • James Gnarra
    Surgery Branch, NCI, Bethesda, MD 20892.
  • Masahiro Yao
    Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.
  • Fuh-Mei Duh
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Mary Lou Orcutt
    Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.
  • Thomas Stackhouse
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Igor Kuzmin
    Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.
  • William Modi
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Laura Geil
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Laura Schmidt
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Fangwei Zhou
    Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.
  • Hua Li
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Ming Hui Wei
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Fan Chen
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Gladys Glenn
    Cancer Diagnosis Branch, NCI, Bethesda, MD 20892.
  • Peter Choyke
    Clinical Center, Department of Radiology, NCI, Bethesda, MD 20892.
  • McClellan M. Walther
    Surgery Branch, NCI, Bethesda, MD 20892.
  • Yongkai Weng
    Surgery Branch, NCI, Bethesda, MD 20892.
  • Dah-Shuhn R. Duan
    Surgery Branch, NCI, Bethesda, MD 20892.
  • Michael Dean
    Laboratory of Viral Carcinogenesis, NCIFCRDC, Frederick, MD 21702-1201.
  • Damjan Glavač
    Program Resources, Inc./DynCorp, NCI-FCRDC, Frederick, MD 21702-1201.
  • Frances M. Richards
    Department of Pathology, Cambridge University, Cambridge CB2 1QP, United Kingdom.
  • Paul A. Crossey
    Department of Pathology, Cambridge University, Cambridge CB2 1QP, United Kingdom.
  • Malcolm A. Ferguson-Smith
    Department of Pathology, Cambridge University, Cambridge CB2 1QP, United Kingdom.
  • Denis Le Paslier
    Centre d'Etude du Polymorphisme Humain, Paris F-75010, France.
  • llya Chumakov
    Centre d'Etude du Polymorphisme Humain, Paris F-75010, France.
  • Daniel Cohen
    Centre d'Etude du Polymorphisme Humain, Paris F-75010, France.
  • A. Craig Chinault
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
  • Eamonn R. Maher
    Department of Pathology, Cambridge University, Cambridge CB2 1QP, United Kingdom.
  • W. Marston Linehan
    Surgery Branch, NCI, Bethesda, MD 20892.
  • Berton Zbar
    Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.
  • Michael I. Lerman
    Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research and Development Center (NCI-FCRDC), Frederick, MD 21702-1201.

説明

<jats:p> A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. A restriction fragment encompassing the gene showed rearrangements in 28 of 221 VHL kindreds. Eighteen of these rearrangements were due to deletions in the candidate gene, including three large nonoverlapping deletions. Intragenic mutations were detected in cell lines derived from VHL patients and from sporadic renal cell carcinomas. The VHL gene is evolutionarily conserved and encodes two widely expressed transcripts of approximately 6 and 6.5 kilobases. The partial sequence of the inferred gene product shows no homology to other proteins, except for an acidic repeat domain found in the procyclic surface membrane glycoprotein of <jats:italic>Trypanosoma brucei</jats:italic> . </jats:p>

収録刊行物

  • Science

    Science 260 (5112), 1317-1320, 1993-05-28

    American Association for the Advancement of Science (AAAS)

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