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Prospective functional classification of all possible missense variants in PPARG.

Accepted version
Peer-reviewed

Type

Article

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Authors

Majithia, Amit R 
Tsuda, Ben 
Agostini, Maura 
Gnanapradeepan, Keerthana 
Rice, Robert 

Abstract

Clinical exome sequencing routinely identifies missense variants in disease-related genes, but functional characterization is rarely undertaken, leading to diagnostic uncertainty. For example, mutations in PPARG cause Mendelian lipodystrophy and increase risk of type 2 diabetes (T2D). Although approximately 1 in 500 people harbor missense variants in PPARG, most are of unknown consequence. To prospectively characterize PPARγ variants, we used highly parallel oligonucleotide synthesis to construct a library encoding all 9,595 possible single-amino acid substitutions. We developed a pooled functional assay in human macrophages, experimentally evaluated all protein variants, and used the experimental data to train a variant classifier by supervised machine learning. When applied to 55 new missense variants identified in population-based and clinical sequencing, the classifier annotated 6 variants as pathogenic; these were subsequently validated by single-variant assays. Saturation mutagenesis and prospective experimental characterization can support immediate diagnostic interpretation of newly discovered missense variants in disease-related genes.

Description

Keywords

Amino Acid Substitution, Case-Control Studies, Diabetes Mellitus, Type 2, Female, Humans, Lipodystrophy, Macrophages, Male, Mutation, Missense, Myocardial Infarction, PPAR gamma, Prospective Studies

Journal Title

Nat Genet

Conference Name

Journal ISSN

1061-4036
1546-1718

Volume Title

Publisher

Springer Science and Business Media LLC
Sponsorship
Wellcome Trust (100574/Z/12/Z)
Medical Research Council (MC_UU_12012/5)
Wellcome Trust (095515/Z/11/Z)
Wellcome Trust (095564/Z/11/Z)
Wellcome Trust (107064/Z/15/Z)
Medical Research Council (MC_PC_12012)
This work was supported by grants from the National Institute of Diabetes and Digestive and Kidney Diseases (1K08DK102877-01, to A.R.M.; 1R01DK097768-01, to D.A.), NIH/Harvard Catalyst (1KL2TR001100-01, to A.R.M.), the Broad Institute (SPARC award, to A.R.M. and T.M.), and the Wellcome Trust (095564, to K.C.; 107064, to D.B.S.).