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Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
Author: Corominas Castiñeira, Roser
Yang, Xinping
Lin, Guan Ning
Kang, Shuli
Shen, Yun
Ghamsari, Lila
Broly, Martin
Rodriguez, Maria
Tam, Stanley
Trigg, Shelly A.
Fan, Changyu
Yi, Song
Tasan, Murat
Lemmens, Irma
Kuang, Xingyan
Zhao, Nan
Malhotra, Dheeraj
Michaelson, Jacob J.
Vacic, Vladimir
Calderwood, Michael A.
Roth, Frederick P.
Tavernier, Jan
Horvath, Steve
Salehi-Ashtiani, Kourosh
Korkin, Dmitry
Sebat, Jonathan
Hill, David E.
Hao, Tong
Vidal, Marc
Iakoucheva, Lilia M.
Keywords: Autisme
Issue Date: 11-Apr-2014
Publisher: Nature Publishing Group
Abstract: 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.
Note: Versió postprint del document publicat a:
It is part of: Nature Communications, 2014, vol. 5, num. 3650
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ISSN: 2041-1723
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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