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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Analysis of autism linked genes in C. elegans

Principal Investigator

Principal Investigator

Kaplan, Joshua

Description

Description

SHANK mutations and copy number variations (CNVs) — duplications or deletions of stretches of DNA — are linked to autism. Mammals have three SHANK genes, each encoding multiple variants of the SHANK protein expressed by different messenger RNAs. Several mouse SHANK knockouts have been described, but these mutants exhibit inconsistent — and often contradictory — patterns of defects at synapses, or neuronal junctions. Thus, mouse genetic studies have not produced a clear picture of how SHANK proteins regulate the formation or function of synapses. This is most likely due to overlapping functions of the SHANK protein variants. The worm C. elegans has a single SHANK gene, SHN-1. Joshua Kaplan and his colleagues at Massachusetts General Hospital showed that gain- and loss-of-function mutations in SHN-1 have opposite effects on synaptic transmission and that synaptic transmission is sensitive to changes in SHN-1 gene copy number. These results suggest that SHANK mutations and CNVs may contribute to autism via changes in synaptic transmission. Kaplan and his group are trying to determine the biochemical mechanisms that link SHANK to changes in synaptic transmission.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

62500

Current Award Period

Current Award Period

2013-2014

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

2O. Not specific to Question 2 objectives

Project Link

Project Link

Analysis of autism linked genes in C. elegans (External web link)

Institution

Institution

Massachusetts General Hospital

State/Country

State/Country

Massachusetts

Project Number

Project Number

273555

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Analysis of autism linked genes in C. elegans | 62500 | 2013 | 273555

 
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