Investigation of PTCH1 promoter mutations and polymorphisms (CROSBI ID 568099)
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Podaci o odgovornosti
Musani, Vesna ; Sabol, Maja ; Car, Diana ; Ozretic, Petar ; Levanat, Sonja
engleski
Investigation of PTCH1 promoter mutations and polymorphisms
PTCH1 is a tumor suppressor gene, located at 9q22.3, encoding a 12-pass transmembrane glycoprotein, that acts as an antagonist in the Hedgehog signaling pathway. PTCH1 gene has 23 coding exons and several alternative forms of exon 1. PTCH1 is often mutated in Gorlin syndrome and various tumors, basal cell carcinomas in particular. Gorlin syndrome is a rare autosomal dominant disorder characterized with multiple basal cell carcinomas (BCCs), meduloblastomas, meningiomas, ovarian fibromas, jaw cysts, different developmental abnormalities, such as craniofacial alterations, bifid ribs, and polydactyly and syndactyly. Basal cell carcinoma (BCC) of the skin, the most common human cancer, shows a continuously increasing incidence, occurring predominantly on sun-exposed skin of elderly fair-skinned people. Several tumor suppressor genes and oncogenes have been implicated in the pathogenesis of BCCs, and most of them are members of the Hedgehog signaling pathway. In our previous research we discovered several new PTCH1 mutations and polymorphisms located in promoter region of exon 1b. Two new mutations: c.-892_-891CC>TT and c.-808C>T were discovered in BCCs and , new polymorphism c.-1184G>A was found in screening of Gorlin syndrome samples, healthy controls, BCCs and ovarian tumors. Additionally, two new alleles with 5 and 6 CGG repeats were discovered in the CGG repeat polymorphism in the 5’UTR region. We are continuing this research with the functional impact of these mutations and polymorphisms on the promoter activity and consequently on PTCH1 role in the pathway.
PTCH1; promoter
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Podaci o prilogu
190-191.
2010.
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objavljeno
Podaci o matičnoj publikaciji
European journal of human genetics
van Ommen, G-J B
Hampshire: Nature publishing group
1018-4813
Podaci o skupu
European Human Genetics Conference 2010
poster
12.06.2010-15.06.2010
Göteborg, Švedska