Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform

International Journal of Molecular Sciences

Fahad Benthani¹  Phuong N. Tran¹  Nicola Currey¹  Irvin Ng¹  Marc Giry-Laterriere¹  Louise Carey²  Maija R. J. Kohonen-Corish¹  Laurent Pangon¹ 

[1] The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; E-Mails:;Sydney Genome Diagnostics, the Children’s Hospital at Westmead, Sydney, NSW 2145, Australia; E-Mail:

关键词: proteogenomic;    SHANK3;    MCC;   

DOI  :  10.3390/ijms160511522

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.