Conservation of imprinting for autism-linked genes in the brain

  • Awarded: 2013
  • Award Type: Explorer
  • Award #: 276312

Imprinted genes are an unusual class of genes that preferentially express either the maternally or paternally inherited gene copy in the child. A role for imprinted genes in autism-related behaviors has been established through studies of Angelman syndrome, a disorder characterized by features of autism and resulting from loss of the maternally expressed gene UBE3A1. This gene is located in an imprinted gene cluster in the 15q11-13 chromosomal region.

Genetic studies in individuals with autism further suggest a role for imprinted genes in the disorder2, 3. However, most studies of imprinted genes have been performed in mice and little is known about the nature and identity of imprinted genes in the human brain. Christopher Gregg and his colleagues at the University of Utah previously developed a novel approach to uncover imprinted genes in the mouse brain using new genome sequencing technologies. In the new study, Gregg and his team devised a new approach to test the hypothesis that genomic imprinting influences autism-linked genes and gene pathways in the human brain.

The group’s study defined the genes that exhibit imprinting effects in neuronal circuits of the primate brain that influence autism-related behaviors. These findings provide insights into how maternally and paternally inherited mutations may influence the risk for autism.



1.Van Buggenhout G. and J.P. Fryns Eur. J. Hum. Genet. 17, 1367-1373 (2009) PubMed
2.Fradin D. et al. PLoS ONE 5, e12513 (2010) PubMed
3.Lamb J.A. et al. J. Med. Genet. 42, 132-137 (2005) PubMed
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