Journal
NATURE COMMUNICATIONS
Volume 5, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms4650
Keywords
-
Categories
Funding
- NICHD [ARRA R01HD065288]
- NIMH [R01MH091350]
- NHGRI [R01HG001715]
- Ellison Foundation, Boston
- Dana-Farber Cancer Institute Strategic Initiative
- NIH [MH076431]
- Simons Foundation Autism Research Initiative [275724]
- Canadian Institute for Advanced Research Fellowship
- Canada Excellence Research Chairs Program
- National Science Foundation [DBI-0845196, IOS-1126992]
- Fonds voor Wetenschappelijk Onderzoek-Vlaanderen (FWO)
- Fonds de la Recherche Scientifique (FRS-FNRS, Wallonia-Brussels Federation, Belgium)
- Div Of Biological Infrastructure
- Direct For Biological Sciences [0845196] Funding Source: National Science Foundation
Ask authors/readers for more resources
Increased risk for autism spectrum disorders (ASD) is attributed to hundreds of genetic loci. The convergence of ASD variants have been investigated using various approaches, including protein interactions extracted from the published literature. However, these datasets are frequently incomplete, carry biases and are limited to interactions of a single splicing isoform, which may not be expressed in the disease-relevant tissue. Here we introduce a new interactome mapping approach by experimentally identifying interactions between brain-expressed alternatively spliced variants of ASD risk factors. The Autism Spliceform Interaction Network reveals that almost half of the detected interactions and about 30% of the newly identified interacting partners represent contribution from splicing variants, emphasizing the importance of isoform networks. Isoform interactions greatly contribute to establishing direct physical connections between proteins from the de novo autism CNVs. Our findings demonstrate the critical role of spliceform networks for translating genetic knowledge into a better understanding of human diseases.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available