Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform
| Autor: | Phuong N. Tran, Louise Carey, Fahad Benthani, Marc Giry-Laterriere, Laurent Pangon, Irvin Ng, Maija R.J. Kohonen-Corish, Nicola Currey |
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| Rok vydání: | 2015 |
| Předmět: |
Protein isoform
Gene isoform Proteomics Molecular Sequence Data Sequence alignment Nerve Tissue Proteins Plasma protein binding Biology Catalysis lcsh:Chemistry Inorganic Chemistry SHANK3 Gene 03 medical and health sciences 0302 clinical medicine proteogenomic Cell Line Tumor Humans Protein Isoforms Amino Acid Sequence Physical and Theoretical Chemistry lcsh:QH301-705.5 Molecular Biology Peptide sequence SHANK3 Spectroscopy 030304 developmental biology Genetics MCC 0303 health sciences Base Sequence Tumor Suppressor Proteins Brief Report Organic Chemistry General Medicine Computer Science Applications lcsh:Biology (General) lcsh:QD1-999 Sequence Alignment 030217 neurology & neurosurgery Reference genome Protein Binding |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, Vol 16, Iss 5, Pp 11522-11530 (2015) |
| ISSN: | 1422-0067 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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