Rai1 Haploinsufficiency Is Associated with Social Abnormalities in MiceReportar como inadecuado


Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice


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1

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA

2

J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA

3

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

Abstract 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





Autor: Nalini R. Rao 1, Clemer Abad 1, Irene C. Perez 1, Anand K. Srivastava 2, Juan I. Young 1,3 and Katherina Walz 1,3,*

Fuente: http://mdpi.com/



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