PMID- 8658145 OWN - NLM STAT- MEDLINE DCOM- 19960801 LR - 20220321 IS - 0036-8075 (Print) IS - 0036-8075 (Linking) VI - 272 IP - 5268 DP - 1996 Jun 14 TI - Human homolog of patched, a candidate gene for the basal cell nevus syndrome. PG - 1668-71 AB - 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. FAU - Johnson, R L AU - Johnson RL AD - Department of Developmental Biology, Howard Hughes Medical Institute, Stanford University School of Medicine, California 94305-5427, USA. FAU - Rothman, A L AU - Rothman AL FAU - Xie, J AU - Xie J FAU - Goodrich, L V AU - Goodrich LV FAU - Bare, J W AU - Bare JW FAU - Bonifas, J M AU - Bonifas JM FAU - Quinn, A G AU - Quinn AG FAU - Myers, R M AU - Myers RM FAU - Cox, D R AU - Cox DR FAU - Epstein, E H Jr AU - Epstein EH Jr FAU - Scott, M P AU - Scott MP LA - eng SI - GENBANK/U59464 GR - AR3995/AR/NIAMS NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Science JT - Science (New York, N.Y.) JID - 0404511 RN - 0 (DNA, Neoplasm) RN - 0 (Drosophila Proteins) RN - 0 (Insect Hormones) RN - 0 (Membrane Proteins) RN - 0 (PTCH1 protein, human) RN - 0 (Patched Receptors) RN - 0 (Patched-1 Receptor) RN - 0 (Receptors, Cell Surface) RN - 0 (ptc protein, Drosophila) SB - IM MH - Adult MH - Amino Acid Sequence MH - Animals MH - Basal Cell Nevus Syndrome/*genetics MH - Base Sequence MH - Cloning, Molecular MH - DNA, Neoplasm MH - Drosophila MH - *Drosophila Proteins MH - Female MH - Frameshift Mutation MH - *Genes, Tumor Suppressor MH - Humans MH - Insect Hormones/genetics MH - Male MH - Membrane Proteins/*genetics MH - Middle Aged MH - Molecular Sequence Data MH - Patched Receptors MH - Patched-1 Receptor MH - Polymerase Chain Reaction MH - Polymorphism, Single-Stranded Conformational MH - Protein Conformation MH - Receptors, Cell Surface EDAT- 1996/06/14 00:00 MHDA- 2001/03/28 10:01 CRDT- 1996/06/14 00:00 PHST- 1996/06/14 00:00 [pubmed] PHST- 2001/03/28 10:01 [medline] PHST- 1996/06/14 00:00 [entrez] AID - 10.1126/science.272.5268.1668 [doi] PST - ppublish SO - Science. 1996 Jun 14;272(5268):1668-71. doi: 10.1126/science.272.5268.1668.