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Auteur Wesley BANKS |
Documents disponibles écrits par cet auteur (1)
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Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder / Ryan M. SMITH in Autism Research, 7-4 (August 2014)
[article]
Titre : Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Ryan M. SMITH, Auteur ; Wesley BANKS, Auteur ; Emily HANSEN, Auteur ; Wolfgang SADEE, Auteur ; Gail E. HERMAN, Auteur Année de publication : 2014 Article en page(s) : p.459-467 Langues : Anglais (eng) Mots-clés : autism serotonin gene expression HTR2A rs6311 monoamine Index. décimale : PER Périodiques Résumé : The serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor “A” allele of rs6311 to offspring with ASD (permuted P?=?0.0004). Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5? untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. Interpreting the clinical results in the context of our mRNA expression analysis, we speculate that any risk associated with rs6311 is conferred by greater expression of the long 5?UTR mRNA isoform. The current study corroborates earlier associations between rs6311 and ASD in a family study, supporting the hypothesis that rs6311 plays a modulatory role in ASD risk. En ligne : http://dx.doi.org/10.1002/aur.1383 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238
in Autism Research > 7-4 (August 2014) . - p.459-467[article] Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Ryan M. SMITH, Auteur ; Wesley BANKS, Auteur ; Emily HANSEN, Auteur ; Wolfgang SADEE, Auteur ; Gail E. HERMAN, Auteur . - 2014 . - p.459-467.
Langues : Anglais (eng)
in Autism Research > 7-4 (August 2014) . - p.459-467
Mots-clés : autism serotonin gene expression HTR2A rs6311 monoamine Index. décimale : PER Périodiques Résumé : The serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor “A” allele of rs6311 to offspring with ASD (permuted P?=?0.0004). Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5? untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. Interpreting the clinical results in the context of our mRNA expression analysis, we speculate that any risk associated with rs6311 is conferred by greater expression of the long 5?UTR mRNA isoform. The current study corroborates earlier associations between rs6311 and ASD in a family study, supporting the hypothesis that rs6311 plays a modulatory role in ASD risk. En ligne : http://dx.doi.org/10.1002/aur.1383 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238