Human Homolog of <b> <i>patched</i> </b> , a Candidate Gene for the Basal Cell Nevus Syndrome

  • Ronald L. Johnson
    R. L. Johnson, L. V. Goodrich, M. P. Scott, Departments of Developmental Biology and Genetics, Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305-5427, USA.
  • Alana L. Rothman
    A. L. Rothman, J. Xie, J. W. Bare, J. M. Bonifas, A. G. Quinn, E. H. Epstein Jr., Department of Dermatology, San Francisco General Hospital, University of California, San Francisco, CA 94110, USA.
  • Jingwu Xie
    A. L. Rothman, J. Xie, J. W. Bare, J. M. Bonifas, A. G. Quinn, E. H. Epstein Jr., Department of Dermatology, San Francisco General Hospital, University of California, San Francisco, CA 94110, USA.
  • Lisa V. Goodrich
    R. L. Johnson, L. V. Goodrich, M. P. Scott, Departments of Developmental Biology and Genetics, Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305-5427, USA.
  • John W. Bare
    A. L. Rothman, J. Xie, J. W. Bare, J. M. Bonifas, A. G. Quinn, E. H. Epstein Jr., Department of Dermatology, San Francisco General Hospital, University of California, San Francisco, CA 94110, USA.
  • Jeannette M. Bonifas
    A. L. Rothman, J. Xie, J. W. Bare, J. M. Bonifas, A. G. Quinn, E. H. Epstein Jr., Department of Dermatology, San Francisco General Hospital, University of California, San Francisco, CA 94110, USA.
  • Anthony G. Quinn
    A. L. Rothman, J. Xie, J. W. Bare, J. M. Bonifas, A. G. Quinn, E. H. Epstein Jr., Department of Dermatology, San Francisco General Hospital, University of California, San Francisco, CA 94110, USA.
  • Richard M. Myers
    R. M. Myers and D. R. Cox, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • David R. Cox
    R. M. Myers and D. R. Cox, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Ervin H. Epstein
    A. L. Rothman, J. Xie, J. W. Bare, J. M. Bonifas, A. G. Quinn, E. H. Epstein Jr., Department of Dermatology, San Francisco General Hospital, University of California, San Francisco, CA 94110, USA.
  • Matthew P. Scott
    R. L. Johnson, L. V. Goodrich, M. P. Scott, Departments of Developmental Biology and Genetics, Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305-5427, USA.

抄録

<jats:p> The basal cell nevus syndrome (BCNS) is characterized by developmental abnormalities and by the postnatal occurrence of cancers, especially basal cell carcinomas (BCCs), the most common human cancer. Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the <jats:italic>Drosophila patched (ptc)</jats:italic> gene. The <jats:italic>ptc</jats:italic> gene encodes a transmembrane protein that in <jats:italic>Drosophila</jats:italic> acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues. The human <jats:italic>PTC</jats:italic> gene appears to be crucial for proper embryonic development and for tumor suppression. </jats:p>

収録刊行物

  • Science

    Science 272 (5268), 1668-1671, 1996-06-14

    American Association for the Advancement of Science (AAAS)

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