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Mutations of the human  Patched  gene ( PTCH ) have been identified in individuals with the nevoid basal cell carcinoma syndrome (NBCCS) as well as in sporadic basal cell carcinomas and medulloblastomas. We have isolated a homologue of this tumour suppressor gene and localized it to the short arm of chromosome 1 (1p32.1–32.3).  Patched 2(PTCH2) comprises 22 coding exons and spans ∼15 kb of genomic DNA. The gene encodes a 1203 amino acid putative transmembrane protein which is highly homologous to the  PTCH  product. We have characterized the genomic structure of  PTCH2  and have used single-stranded conformational polymorphism analysis to search for mutations in  PTCH2  in NBCCS patients, basal cell carcinomas and in medulloblastomas. To date, we have identified one truncating mutation in a medulloblastoma and a change in a splice donor site in a basal cell carcinoma, suggesting that the gene plays a role in the development of some tumours.

human molecular genetics

Isolation and Characterization of Human  Patched 2 (PTCH2) , a Putative Tumour Suppressor Gene in Basal Cell Carcinoma and Medulloblastoma on Chromosome 1p32