A SNP located in the 5'UTR of an alternative first exon of the CELF6 gene (rs2959930) associated with autism in male probands from AGRE using the transmission disequilibrium test (TDT). Screening for rare variants in the alternative first exon and exons 11-13 of the CELF6 gene in 384 male white ASD probands from AGRE identified a paternally-inherited nonsense variant in a male proband that showed incomplete penetrance with ASD. Disruption of CELF6 in mice resulted in animals exhibiting resistance to change and decreased ultrasonic vocalization as well as abnormal levels of serotonin in the brain (Dougherty et al., 2013).
Molecular Function
RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.
Gene Name: CUGBP, Elav-like family member 6
Aliases: CELF-6; CUG-BP- and ETR-3-like factor 6; CUGBP Elav-like family member 6; RNA-binding protein BRUNOL-6; bruno-like 6, RNA binding protein; bruno-like protein 6
Human Ortholog: CELF6
Summary Statistics:
# of Reports: 1
# of Models: 1
Reproducible and accurate method to profile serotonergic neurons under a variety of conditions and suggests a novel paradigm for gaining information on the etiology of psychiatric disorders.
References
Type
Title
Author, Year
Primary
The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeted deletion of exon 4 of Celf6 introducing pre-mature stop codons resulting in nonsense mediated decay of mRNA.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Description: Decreased ultrasonic vocalizations indicated by fewer calls per recording session
Exp Paradigm: Maternal isolation test for ultrasonic vocalizations
Description: Increased resistance to change indicated by no effect of familiarization with odorants on hole-poking
Exp Paradigm: Modified holeboard test for resistance to change
