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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

Examining the Y-chromosome in autism spectrum disorder

Principal Investigator

Principal Investigator

Scherer, Stephen

Description

Description

There is accumulating evidence that autism spectrum disorder (ASD) is caused by rare inherited or spontaneous genetic mutations, such as copy number changes and single nucleotide alterations. However, the genetic causes that have currently been found only account for about 15% of the cases. Further identification of genetic causes will lead to early diagnosis and aid in the development of interventions for improved outcomes. One striking characteristics of ASD is a strong gender bias, with males four times more likely to be on the spectrum than girls. Recent studies suggest that this gender bias can be caused by genetic mutations found on the sex chromosome. For example, mutations in genes such as PTCHD1, NLGN3 and NLGN4, on chromosome X have been associated with the ASD phenotype. However, the Y chromosome is often disregarded due to its complex and repetitive DNA sequence structure, which makes it difficult to examine comprehensively using conventional genetic technologies. Importantly, chromosome Y contains many genes that are crucial for the brain development and has a high frequency of spontaneous mutations. Moreover, males with abnormal XYY or XXYY karyotypes have increased risk of developing ASD. It is hypothesized that additional genetic mutations involved in ASD can be found on the Y chromosome. The investigators are using the latest genome-sequencing and microarray technologies for discovery of the Y chromosome variants in males associated with autism. Specific aims are to: 1) characterize the DNA sequence and structure of the whole Y chromosome so as to provide a foundation for investigation in this poorly characterized genomic region, 2) identify and validate the candidate autism-associated variants using independent technologies across large case and control cohorts; and 3) Define the effects of mutations on clinical outcomes of the autism individuals and their families. The findings from this project promise to include discovery of novel genetic biomarkers that can be used for early diagnosis and development of novel interventions for autism.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2012-2013

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. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.

Project Link

Project Link

Examining the Y-chromosome in autism spectrum disorder (External web link)

Institution

Institution

The Hospital for Sick Children

State/Country

State/Country

Canada

Project Number

Project Number

8421

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Examining the Y-chromosome in autism spectrum disorder | 175000 | 2012 | 8421

 
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