A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

@article{Jiang2004AME,
  title={A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A},
  author={Yong-hui Jiang and Trilochan Sahoo and Ron C. Michaelis and Dani Bercovich and Jan Bressler and Catherine D. Kashork and Qian Liu and Lisa G Shaffer and Richard J. Schroer and David W. Stockton and R. S. Spielman and Roger E. Stevenson and Arthur L Beaudet},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={131A}
}
The genetic contribution to autism is often attributed to the combined effects of many loci (ten or more). This conclusion is based in part on the much lower concordance for dizygotic (DZ) than for monozygotic (MZ) twins, and is consistent with the failure to find strong evidence for linkage in genome‐wide studies. We propose that the twin data are compatible with oligogenic inheritance combined with a major, genetic or epigenetic, de novo component to the etiology. Based on evidence that… 
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Major questions concerning the molecular pathogen- esis of AS remain, including: the mechanisms underlying the imprinting defect class of AS, the identity of proteins targeted by UBE3A, the role of a non- coding antisense transcript in regulating UBE2A imprinting and the contribution of other genes such as methyl-binding CpG-binding protein 2 and g- aminobutyric acid A receptor, subunit b3 to the AS phenotype.
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