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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

5-hydroxymethylcytocine-mediated epigenetic regulation in autism

Principal Investigator

Principal Investigator

Jin, Peng

Description

Description

Several disorders caused by single-gene mutations, such as Fragile X syndrome, Rett syndrome and Angelman syndrome, are associated with autism. In these disorders, a substantial proportion of affected individuals meet diagnostic criteria for autism spectrum disorders, reflecting a greatly increased risk of autism conferred by the mutations. Although these monogenic disorders collectively only account for a minority of autism cases (10-15%), the molecular alterations in these disorders could reveal common pathogenic pathways shared by ASDs. Recent studies have demonstrated the presence of 5-hydroxymethylcytosine (5hmC), the 6th nucleotide in the genome. Unlike 5-methylcytosine (5mC) that has been implicated in the repression of gene expression, 5-hmC has been proposed to play significant role(s) in gene reactivation, which would be important for proper neuronal functions. We have found that the alteration of 5hmC at specific loci could be a common epigenetic alteration associated with autism-linked monogenic disorders. In this proposal, we will explore the role of 5hmC-mediated epigenetic modulation in ASD-linked monogenic disorders as well as autism in general. Our study could contribute to the identification of autism genetic/epigenetic risk factors, and will provide insight into the molecular pathogenesis of autisms.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

100000

Current Award Period

Current Award Period

2012-2015

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 3SJ. Support at least three studies that focus on the role of epigenetics in the etiology of ASD, including studies that include assays to measure DNA methylations and histone modifications and those exploring how exposures may act on maternal or paternal genomes via epigenetic mechanisms to alter gene expression, by 2012. IACC Recommended Budget: $20,000,000 over 5 years.

Project Link

Project Link

No link available.

Institution

Institution

Emory University

State/Country

State/Country

Georgia

Project Number

Project Number

239320

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

5-Hydroxymethylcytocine-mediated epigenetic regulation in autism spectrum disorders | 60000 | 2012 | 7660
5-Hydroxymethylcytocine-mediated epigenetic regulation in autism spectrum disorders | 0 | 2014 | 7660
5-Hydroxymethylcytocine-mediated epigenetic regulation in autism spectrum disorders | 60000 | 2013 | 7660
5-hydroxymethylcytocine-mediated epigenetic regulation in autism | 200000 | 2014 | 239320
5-hydroxymethylcytocine-mediated epigenetic regulation in autism | 200000 | 2013 | 239320
5-hydroxymethylcytocine-mediated epigenetic regulation in autism | 100000 | 2015 | 239320

 
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