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PTCH mutations: distribution and analyses.

机译：PTCH突变：分布和分析。

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摘要

Mutations in the PTCH (PTCH1) gene are the underlying cause of nevoid basal cell carcinoma syndrome (NBCCS), and are also found in many different sporadic tumors in which PTCH is thought to act as a tumor suppressor gene. To investigate the distribution pattern of these mutations in tumors and NBCCS, we analyzed 284 mutations and 48 SNPs located in the PTCH gene that were compiled from our PTCH mutation database. We found that the PTCH mutations were mainly clustered into the predicted two large extracellular loops and the large intracellular loop. The SNPs appeared to be clustered around the sterol sensing domain and the second half of the protein. The NBCCS cases and each class of tumor analyzed revealed a different distribution of the mutations in the various PTCH domains. Moreover, the types of mutations were also unique for the different groups. Finally, the PTCH gene harbors mutational hot spot residues and regions, including a slippage-sensitive sequence in the N-terminus.
机译：PTCH（PTCH1）基因中的突变是避免发生基底细胞癌综合征（NBCCS）的根本原因，并且在许多不同的散发性肿瘤中也发现，其中PTCH被认为是抑癌基因。为了研究这些突变在肿瘤和NBCCS中的分布模式，我们分析了PTCH基因中的284个突变和48个SNP，这些突变是从我们的PTCH突变数据库中汇编而来的。我们发现，PTCH突变主要聚集在预测的两个大的细胞外环和大的细胞内环。 SNP似乎聚集在固醇感测域和蛋白质的后半部分周围。 NBCCS病例和所分析的每种肿瘤都揭示了在各种PTCH域中突变的不同分布。此外，突变的类型对于不同的群体也是独特的。最后，PTCH基因包含突变热点残基和区域，包括N端的滑移敏感序列。

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