Aperçu: G.M.
L'autisme se caractérise par des difficultés dans l'interaction sociale, la communication et les comportements répétitifs; Avec différents degrés de sévérité dans chacun de ces domaines, l'haploinsuffisance et les mutations du gène RAI1(retinoic acid induced 1) sont associées au syndrome de
Smith-Magenis (SMS), un état génétique qui touche la gamme du spectre de l'autisme pour la réceptivité sociale et la communication et se
caractérise par des anomalies neuro-comportementales, un handicap
intellectuel, un retard de développement, une perturbation du sommeil et des comportements auto-injuriants.
L'évaluation de souris Rai1 +/-montre qu'elles présentaient
une diminution de l'intérêt pour les odeurs sociales, les tendances
de soumissions anormales et des comportements répétitifs accrus par rapportà leurs congénères non RAI1. Ces résultats suggèrent que Rai1 contribue au comportement social
chez la souris et l'invite à devenir un gène candidat pour les
comportements sociaux observés chez les malades du syndrome de
Smith-Magenis.
Biology (Basel). 2017 Apr 27;6(2). pii: E25. doi: 10.3390/biology6020025.
Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice
Author information
- 1
- John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. nalini.rao326@gmail.com
- 2
- John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. cabad@med.miami.edu.
- 3
- John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. irene.perez28@gmail.com.
- 4
- J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA. anand@ggc.org.
- 5
- John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. jyoung3@med.miami.edu.
- 6
- Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. jyoung3@med.miami.edu.
- 7
- John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA. kwalz@med.miami.edu.
- 8
- Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA. kwalz@med.miami.edu.
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.
- PMID: 28448442
- DOI: 10.3390/biology6020025
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