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Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism
BACKGROUND: Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. The arginine vasopressin receptor 1A gene (AVPR1A) is widely expressed in the brain and is considered to be a key receptor fo...
Autores principales: | , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080300/ https://www.ncbi.nlm.nih.gov/pubmed/21453499 http://dx.doi.org/10.1186/2040-2392-2-3 |
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author | Tansey, Katherine E Hill, Matthew J Cochrane, Lynne E Gill, Michael Anney, Richard JL Gallagher, Louise |
author_facet | Tansey, Katherine E Hill, Matthew J Cochrane, Lynne E Gill, Michael Anney, Richard JL Gallagher, Louise |
author_sort | Tansey, Katherine E |
collection | PubMed |
description | BACKGROUND: Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. The arginine vasopressin receptor 1A gene (AVPR1A) is widely expressed in the brain and is considered to be a key receptor for regulation of social behaviour. Moreover, genetic variation at AVPR1A has been reported to be associated with autism. Evidence from non-human mammals implicates variation in the 5'-flanking region of AVPR1A in variable gene expression and social behaviour. METHODS: We examined four tagging single nucleotide polymorphisms (SNPs) (rs3803107, rs1042615, rs3741865, rs11174815) and three microsatellites (RS3, RS1 and AVR) at the AVPR1A gene for association in an autism cohort from Ireland. Two 5'-flanking region polymorphisms in the human AVPR1A, RS3 and RS1, were also tested for their effect on relative promoter activity. RESULTS: The short alleles of RS1 and the SNP rs11174815 show weak association with autism in the Irish population (P = 0.036 and P = 0.008, respectively). Both RS1 and RS3 showed differences in relative promoter activity by length. Shorter repeat alleles of RS1 and RS3 decreased relative promoter activity in the human neuroblastoma cell line SH-SY5Y. CONCLUSIONS: These aligning results can be interpreted as a functional route for this association, namely that shorter alleles of RS1 lead to decreased AVPR1A transcription, which may proffer increased susceptibility to the autism phenotype. |
format | Text |
id | pubmed-3080300 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-30803002011-04-21 Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism Tansey, Katherine E Hill, Matthew J Cochrane, Lynne E Gill, Michael Anney, Richard JL Gallagher, Louise Mol Autism Research BACKGROUND: Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. The arginine vasopressin receptor 1A gene (AVPR1A) is widely expressed in the brain and is considered to be a key receptor for regulation of social behaviour. Moreover, genetic variation at AVPR1A has been reported to be associated with autism. Evidence from non-human mammals implicates variation in the 5'-flanking region of AVPR1A in variable gene expression and social behaviour. METHODS: We examined four tagging single nucleotide polymorphisms (SNPs) (rs3803107, rs1042615, rs3741865, rs11174815) and three microsatellites (RS3, RS1 and AVR) at the AVPR1A gene for association in an autism cohort from Ireland. Two 5'-flanking region polymorphisms in the human AVPR1A, RS3 and RS1, were also tested for their effect on relative promoter activity. RESULTS: The short alleles of RS1 and the SNP rs11174815 show weak association with autism in the Irish population (P = 0.036 and P = 0.008, respectively). Both RS1 and RS3 showed differences in relative promoter activity by length. Shorter repeat alleles of RS1 and RS3 decreased relative promoter activity in the human neuroblastoma cell line SH-SY5Y. CONCLUSIONS: These aligning results can be interpreted as a functional route for this association, namely that shorter alleles of RS1 lead to decreased AVPR1A transcription, which may proffer increased susceptibility to the autism phenotype. BioMed Central 2011-03-31 /pmc/articles/PMC3080300/ /pubmed/21453499 http://dx.doi.org/10.1186/2040-2392-2-3 Text en Copyright ©2011 Tansey et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Tansey, Katherine E Hill, Matthew J Cochrane, Lynne E Gill, Michael Anney, Richard JL Gallagher, Louise Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism |
title | Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism |
title_full | Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism |
title_fullStr | Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism |
title_full_unstemmed | Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism |
title_short | Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism |
title_sort | functionality of promoter microsatellites of arginine vasopressin receptor 1a (avpr1a): implications for autism |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080300/ https://www.ncbi.nlm.nih.gov/pubmed/21453499 http://dx.doi.org/10.1186/2040-2392-2-3 |
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