title: Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
abstract: 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 Drosophila patched (ptc) gene. The ptc gene encodes a transmembrane protein that in Drosophila acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues. The human PTC gene appears to be crucial for proper embryonic development and for tumor suppression.
authors.affiliation: Department of Developmental Biology, Howard Hughes Medical Institute, Stanford University School of Medicine, California 94305-5427, USA.
authors.forename: R L
authors.initials: RL
authors.lastname: Johnson
authors.forename: A L
authors.initials: AL
authors.lastname: Rothman
authors.forename: J
authors.initials: J
authors.lastname: Xie
authors.forename: L V
authors.initials: LV
authors.lastname: Goodrich
authors.forename: J W
authors.initials: JW
authors.lastname: Bare
authors.forename: J M
authors.initials: JM
authors.lastname: Bonifas
authors.forename: A G
authors.initials: AG
authors.lastname: Quinn
authors.forename: R M
authors.initials: RM
authors.lastname: Myers
authors.forename: D R
authors.initials: DR
authors.lastname: Cox
authors.forename: E H
authors.initials: EH
authors.lastname: Epstein
authors.forename: M P
authors.initials: MP
authors.lastname: Scott
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D001483:Base Sequence; D003001:Cloning, Molecular; D004273:DNA, Neoplasm; D004330:Drosophila; D029721:Drosophila Proteins; D005260:Female; D016368:Frameshift Mutation; D016147:Genes, Tumor Suppressor; D006801:Humans; D007301:Insect Hormones / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011487:Protein Conformation; D011956:Receptors, Cell Surface
chemical_list: D004273:DNA, Neoplasm; D029721:Drosophila Proteins; D007301:Insect Hormones; D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface; C070844:ptc protein, Drosophila