Next Article in Journal
Developmental Control of NRAMP1 (SLC11A1) Expression in Professional Phagocytes
Previous Article in Journal
Is Polysialylated NCAM Not Only a Regulator during Brain Development But also during the Formation of Other Organs?
Article Menu

Export Article

Open AccessArticle
Biology 2017, 6(2), 25; doi:10.3390/biology6020025

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

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
Received: 30 November 2016 / Revised: 13 April 2017 / Accepted: 20 April 2017 / Published: 27 April 2017
View Full-Text   |   Download PDF [607 KB, uploaded 27 April 2017]   |  

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
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

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.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Biology EISSN 2079-7737 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top