Proteogenomic analysis identifies a novel human SHANK3 isoform

Fahad Benthani, Phuong N. Tran, Nicola Currey, Irvin Ng, Marc Giry-Laterriere, Louise Carey, Maija R. J. Kohonen-Corish, Laurent Pangon

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)
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Abstract

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.
Original languageEnglish
Pages (from-to)11522-11530
Number of pages9
JournalInternational Journal of Molecular Sciences
Volume16
Issue number5
DOIs
Publication statusPublished - 2015
Externally publishedYes

Bibliographical note

Copyright the Author(s) 2015. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

  • proteogenomic
  • SHANK3
  • MCC

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