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Splice
variants reveal connections among autism genes
Splice
variants reveal connections among autism genes
Date:
April 11,
2014
Source:
University of California, San Diego
Health Sciences
Summary:
A new aspect of autism has been discovered, revealing
that proteins involved in autism interact with many more partners than
previously known. The scientists isolated hundreds of new variants of autism
genes from the human brain, and then screened their protein products against
thousands of other proteins to identify interacting partners. Proteins produced
by alternatively-spliced autism genes and their many partners formed a
biological network that produced an unprecedented view of how autism genes are
connected.
...........................
A team of
researchers from the University of California, San Diego School of Medicine and
the Center for Cancer Systems Biology (CCSB) at the Dana-Farber Cancer
Institute has uncovered a new aspect of autism, revealing that proteins
involved in autism interact with many more partners than previously known.
These interactions had not been detected earlier because they involve
alternatively spliced forms of autism genes found in the brain
In their
study, published in the April 11, 2014 online issue of Nature Communications,
the scientists isolated hundreds of new variants of autism genes from the human
brain, and then screened their protein products against thousands of other
proteins to identify interacting partners. Proteins produced by
alternatively-spliced autism genes and their many partners formed a biological
network that produced an unprecedented view of how autism genes are connected.
“When the
newly discovered splice forms of autism genes were added to the network, the
total number of interactions doubled,” said principal investigator Lilia
Iakoucheva, PhD, assistant professor in the Department of Psychiatry at UC San
Diego. In some cases, the splice forms interacted with a completely different
set of proteins. “What we see from this network is that different variants of
the same protein could alter the wiring of the entire system,” Iakoucheva said.
“This is the
first proteome-scale interaction network to incorporate alternative splice
forms,” noted Marc Vidal, PhD, CCSB director and a co-investigator on the
study. “The fact that protein variants produce such diverse patterns of
interactions is exciting and quite unexpected.”
The new
network also illuminated how multiple autism genes connect to one another. The
scientists found that one class of mutations involved in autism, known as copy
number variants, involve genes that are closely connected to each other
directly or indirectly through a common partner. “This suggests that shared
biological pathways may be disrupted in patients with different autism
mutations,” said co-first author Guan Ning Lin, PhD, a postdoctoral fellow in
Iakoucheva’s laboratory.
Beyond
providing greater breadth and depth around autism proteins, the network
represents a new resource for future autism studies, according to Iakoucheva.
For example, she said the physical collection of more than 400 splicing
variants of autism candidate genes could be used by other researchers
interested in studying a specific protein variant. Some of the highly connected
network partners may also represent potential drug targets. All interaction
data will reside in the publicly available National Database of Autism
Research.
“With this
assembled autism network, we can begin to investigate how newly discovered
mutations from patients may disrupt this network,” said Iakoucheva. “This is an
important task because the mechanism by which mutant proteins contribute to
autism in 99.9 percent of cases remains unknown.”
Story
Source:
The above
story is based on materials provided by University of California, San Diego
Health Sciences. Note:
Materials may be edited for content and length.
Journal
Reference:
- Roser Corominas, Xinping Yang, Guan Ning Lin, Shuli Kang, Yun Shen, Lila Ghamsari, Martin Broly, Maria Rodriguez, Stanley Tam, Shelly A. Trigg, Changyu Fan, Song Yi, Murat Tasan, Irma Lemmens, Xingyan Kuang, Nan Zhao, Dheeraj Malhotra, Jacob J. Michaelson, Vladimir Vacic, Michael A. Calderwood, Frederick P. Roth, Jan Tavernier, Steve Horvath, Kourosh Salehi-Ashtiani, Dmitry Korkin, Jonathan Sebat, David E. Hill, Tong Hao, Marc Vidal, Lilia M. Iakoucheva. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Nature Communications, 2014; 5 DOI: 10.1038/ncomms4650
Cite This
Page:
University of California, San Diego
Health Sciences. "Splice variants reveal connections among autism
genes." ScienceDaily. ScienceDaily, 11 April 2014.
<www.sciencedaily.com/releases/2014/04/140411091315.htm>.
