Autism and ultraconserved non-coding sequence on chromosome 7q.
Esther Richler1, Jennifer G Reichert, Joseph D Buxbaum
1Department of Psychiatry, Mount Sinai School of Medicine, New York, USA.
Psychiatric Genetics
|January 6, 2006
Summary
Researchers investigated ultraconserved elements near autism genes on chromosome 7q. They found no strong evidence linking these sequences to autism susceptibility alleles.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
Background:
- Autism Spectrum Disorder (ASD) is associated with chromosome 7q, a region rich in genes regulating transcription and development.
- This chromosomal region contains ultraconserved non-coding elements (UCEs) with high functional potential.
- Previous studies identified few coding variants in 7q autism candidate genes, prompting investigation into UCEs.
Purpose of the Study:
- To screen UCEs in or flanking the DLX5/6, AUTS2, and FOXP2 genes on chromosome 7q for autism susceptibility alleles.
- To determine if rare variants within these UCEs contribute to autism risk.
Main Methods:
- Employed denaturing high-performance liquid chromatography and DNA sequencing for variant detection.
- Analyzed 146 autism cases and 124 controls.
- Screened 10 consecutive UCEs in the DLX5/6, AUTS2, and FOXP2 gene regions on chromosome 7q.
Main Results:
- Identified rare variants in both autism cases and controls.
- Observed variants present in controls but absent in cases.
- Found multiple independent variants within specific UCEs, suggesting conservation is maintained by reduced fixation rather than lower mutation rates.
Conclusions:
- The screened ultraconserved elements are unlikely to harbor major autism susceptibility alleles.
- Findings suggest that common variants in these UCEs do not significantly contribute to autism risk.
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