Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome

• Published in: Science (American Association for the Advancement of Science) Vol. 272; no. 5268; pp. 1668 - 1671
• Main Authors: Johnson, Ronald L., Rothman, Alana L., Xie, Jingwu, Goodrich, Lisa V., Bare, John W., Bonifas, Jeannette M., Quinn, Anthony G., Myers, Richard M., Cox, David R., Epstein, Ervin H., Scott, Matthew P.
• Format: Journal Article
• Language: English
• Published: Washington, DC American Society for the Advancement of Science 14.06.1996; American Association for the Advancement of Science; The American Association for the Advancement of Science
• Subjects: Adult; Adults; Amino Acid Sequence; Amino acids; Anatomy; Animals; Basal cell nevus syndrome; Basal Cell Nevus Syndrome - genetics; Base Sequence; Biological and medical sciences; Cancer; Cloning, Molecular; Coding; Congenital Impairments; Dermatology; DNA; DNA, Neoplasm; Drosophila; Drosophila Proteins; Duplication; Exons; Family (Sociological Unit); Female; Frameshift Mutation; Genes; Genes, Tumor Suppressor; Genetic aspects; Genetic mutation; Genetics; Human genetics; Humans; Insect Hormones - genetics; Male; Medical sciences; Membrane Proteins - genetics; Middle Aged; Molecular Sequence Data; Neurological disorders; Patched Receptors; Patched-1 Receptor; Patients; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Protein Conformation; Receptors, Cell Surface; Tumors; Tumors of the skin and soft tissue. Premalignant lesions; Vertebrates; Genetic mapping; Human; Transmembrane protein; Embryonic development; Skin disease; Basal cell carcinoma; Sporadic; Nucleotide sequence; Homology; Malignant tumor; Cell differentiation; Chromosome C9; Genetic disease; Predisposition; Deletion; Mutation; Basal cell nevus syndrome; Molecular biology; Physical map; Tumor suppressor gene
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.272.5268.1668

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.