Isolation and characterization of human Patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32
I. Smyth et al., Isolation and characterization of human Patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32, HUM MOL GEN, 8(2), 1999, pp. 291-297
mutations of the human Patched gene (PTCH) have been identified in individu
als with the nevoid basal cell carcinoma syndrome (NBCCS) as well as in spo
radic basal cell carcinomas and medulloblastomas, We have isolated a homolo
gue of this tumour suppressor gene and localized it to the short arm of chr
omosome 1 (1p32.1-32.3). Patched 2(PTCH2) comprises 22 coding exons and spa
ns similar to 15 kb of genomic DNA, The gene encodes a 1203 amino acid puta
tive transmembrane protein which is highly homologous to the PTCH product.
We have characterized the genomic structure of PTCH2 and have used single-s
tranded conformational polymorphism analysis to search for mutations in PTC
H2 in NBCCS patients, basal cell carcinomas and in medulloblastomas, To dat
e, we have identified one truncating mutation in a medulloblastoma and a ch
ange in a splice donor site in a basal cell carcinoma, suggesting that the
gene plays a role in the development of some tumours.