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Biology 2017, 6(2), 25;

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA
J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA
Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
Author to whom correspondence should be addressed.
Academic Editor: Chris O’Callaghan
Received: 30 November 2016 / Revised: 13 April 2017 / Accepted: 20 April 2017 / Published: 27 April 2017
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Background: Autism is characterized by difficulties in social interaction, communication, and repetitive behaviors; with different degrees of severity in each of the core areas. Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, and self-injurious behaviors. Methods: To investigate the relationship between Rai1 and social impairment, we evaluated the Rai1+/− mice with a battery of tests to address social behavior in mice. Results: We found that the mutant mice showed diminished interest in social odors, abnormal submissive tendencies, and increased repetitive behaviors when compared to wild type littermates. Conclusions: These findings suggest that Rai1 contributes to social behavior in mice, and prompt it as a candidate gene for the social behaviors observed in Smith-Magenis Syndrome patients. View Full-Text
Keywords: Autism spectrum disorder; Smith-Magenis syndrome; Rai1; social behavior Autism spectrum disorder; Smith-Magenis syndrome; Rai1; social behavior

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Rao, N.R.; Abad, C.; Perez, I.C.; Srivastava, A.K.; Young, J.I.; Walz, K. Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice. Biology 2017, 6, 25.

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