A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family.

摘要: The primary genetic cancer predisposing event in many Li-Fraumeni syndrome families is a germline mutation the p53 gene. We describe an extended family with gene involving deletion of exon 10. 2.35 kilobase intragenic encompassing 10, which results specific loss entire oligomerization domain. This segregates phenotype. A lymphoblastoid cell line developed from carrier shows accumulation mutant protein by immunoblotting. However, tumor tissues two affected carriers are negative immunohistochemical staining. major structural alteration specifically domain has not been previously described and occurs region rarely mutated sporadic tumors. dispensable for wild-type functions, including transactivation, sequence-specific DNA binding, suppression oncogenic transformation. appears to be required transcriptional repression, strand reassociation. identification this LFS may yield insights into importance suppressor function