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Proteogenomic analysis identifies a novel human SHANK3 isoform


Mutations of the SHANK3 gene have been associated with autism spectrum disorder. Individuals harboring different SHANK3 mutations display considerable heterogeneity in their cognitive impairment, likely due to the high SHANK3 transcriptional diversity. In this study, we report a novel interaction between the Mutated in colorectal cancer (MCC) protein and a newly identified SHANK3 protein isoform in human colon cancer cells and mouse brain tissue. Hence, our proteogenomic analysis identifies a new human long isoform of the key synaptic protein SHANK3 that was not predicted by the human reference genome. Taken together, our findings describe a potential new role for MCC in neurons, a new human SHANK3 long isoform and, importantly, highlight the use of proteomic data towards the re-annotation of GC-rich genomic regions.

Type Journal
ISBN 1422-0067 (Electronic) 1422-0067 (Linking)
Authors Benthani, F.; Tran, P. N.; Currey, N.; Ng, I.; Giry-Laterriere, M.; Carey, L.; Kohonen-Corish, M. R.; Pangon, L.;
Garvan Authors Fahad Benthani , Dr Laurent Pangon , A/Prof Maija Kohonen-Corish , Nicola Currey , Dr Phuong Tran
Publisher Name INT J MOL SCI
Published Date 2015-01-01 00:00:00
Published Volume 16
Published Issue 5
Published Pages 11522-11530
Status Published In-print
OpenAccess Link