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Int. J. Mol. Sci. 2015, 16(5), 11522-11530; doi:10.3390/ijms160511522

Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform

1
The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia
2
St Vincent's Clinical School, UNSW Medicine, UNSW Australia, Sydney, NSW 2052, Australia
3
Sydney Genome Diagnostics, the Children's Hospital at Westmead, Sydney, NSW 2145, Australia
These authors contributed equally to this work.
*
Authors to whom correspondence should be addressed.
Academic Editor: Bin Yan
Received: 15 January 2015 / Revised: 11 May 2015 / Accepted: 12 May 2015 / Published: 19 May 2015
(This article belongs to the Section Biochemistry, Molecular and Cellular Biology)
View Full-Text   |   Download PDF [2011 KB, uploaded 19 May 2015]   |  

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. View Full-Text
Keywords: proteogenomic; SHANK3; MCC proteogenomic; SHANK3; MCC
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Benthani, F.; Tran, P.N.; Currey, N.; Ng, I.; Giry-Laterriere, M.; Carey, L.; Kohonen-Corish, M.R.J.; Pangon, L. Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform. Int. J. Mol. Sci. 2015, 16, 11522-11530.

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