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A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Am J Hum Genet. 2018-04; 
Taylor L Mighell, Sara Evans-Dutson, Brian J O'Roak
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Oligo pool … pool (using primers with prefix: PTEN_sliceprimer, Table S1). These DNA tiles were synthesized as 130-mers (prefix: PTENTile) as part of a 12,000-feature oligo pool by CustomArray. For each tile, we designed inverse PCR … Get A Quote

摘要

Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically relevant genotype-phenotype relationships, we systematically evaluated the effect of PTEN mutations on lipid phosphatase activity in vivo. Using a massively parallel approach that leverages an artificial humanized yeast model, we derived high-confidence estimates of functional impact for 7,244 single amino acid PTEN variants (86% of possible). We identified 2,273 mutations with reduced cellular li... More

关键词

Cowden syndrome, PTEN, PTEN hamartoma tumor syndrome, autism spectrum disorder, cancer, deep mutation scanning, genotype-phenotype, protein function, tumor suppressor, variants of uncertain significance