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Détail de l'auteur
Auteur Katherine E. TANSEY |
Documents disponibles écrits par cet auteur (2)
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Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism / Katherine E. TANSEY in Molecular Autism, (March 2011)
[article]
Titre : Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism Type de document : Texte imprimé et/ou numérique Auteurs : Katherine E. TANSEY, Auteur ; Matthew J. HILL, Auteur ; Lynne E. COCHRANE, Auteur ; Michael GILL, Auteur ; Richard ANNEY, Auteur ; Louise GALLAGHER, Auteur Année de publication : 2011 Article en page(s) : 8 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : 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.En ligne : http://dx.doi.org/10.1186/2040-2392-2-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=122
in Molecular Autism > (March 2011) . - 8 p.[article] Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism [Texte imprimé et/ou numérique] / Katherine E. TANSEY, Auteur ; Matthew J. HILL, Auteur ; Lynne E. COCHRANE, Auteur ; Michael GILL, Auteur ; Richard ANNEY, Auteur ; Louise GALLAGHER, Auteur . - 2011 . - 8 p.
Langues : Anglais (eng)
in Molecular Autism > (March 2011) . - 8 p.
Index. décimale : PER Périodiques Résumé : 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.En ligne : http://dx.doi.org/10.1186/2040-2392-2-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=122 Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample / Lynne E. COCHRANE in Autism Research, 3-6 (December 2010)
[article]
Titre : Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample Type de document : Texte imprimé et/ou numérique Auteurs : Lynne E. COCHRANE, Auteur ; Katherine E. TANSEY, Auteur ; Michael GILL, Auteur ; Louise GALLAGHER, Auteur ; Richard ANNEY, Auteur Année de publication : 2010 Article en page(s) : p.342-344 Langues : Anglais (eng) Mots-clés : genetics allelic association Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by impairments in three core areas—language, social interaction and restricted/repetitive behaviours. It is generally accepted that genetics plays a large role in the aetiology of autism, but the exact mechanism is still unknown. We recently published evidence of an association between autism and the ITGA4 gene [Conroy et al., 2008]. Two genomic regions have shown evidence of linkage to autism in multiple studies— 2q31-q33 and 17q21-q22. Both of these regions harbour multiple integrin subunit genes. We tested markers in ITGA3, ITGA6, ITGAV and ITGB3 for association with autism in the Irish autism sample. No markers in ITGA3, ITGA6, ITGAV and ITGB3 were found to be associated with autism. Three 3-marker haplotypes in ITGAV, ITGA3 and ITGA6 were found to be nominally associated (0.01 En ligne : http://dx.doi.org/10.1002/aur.157 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115
in Autism Research > 3-6 (December 2010) . - p.342-344[article] Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample [Texte imprimé et/ou numérique] / Lynne E. COCHRANE, Auteur ; Katherine E. TANSEY, Auteur ; Michael GILL, Auteur ; Louise GALLAGHER, Auteur ; Richard ANNEY, Auteur . - 2010 . - p.342-344.
Langues : Anglais (eng)
in Autism Research > 3-6 (December 2010) . - p.342-344
Mots-clés : genetics allelic association Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by impairments in three core areas—language, social interaction and restricted/repetitive behaviours. It is generally accepted that genetics plays a large role in the aetiology of autism, but the exact mechanism is still unknown. We recently published evidence of an association between autism and the ITGA4 gene [Conroy et al., 2008]. Two genomic regions have shown evidence of linkage to autism in multiple studies— 2q31-q33 and 17q21-q22. Both of these regions harbour multiple integrin subunit genes. We tested markers in ITGA3, ITGA6, ITGAV and ITGB3 for association with autism in the Irish autism sample. No markers in ITGA3, ITGA6, ITGAV and ITGB3 were found to be associated with autism. Three 3-marker haplotypes in ITGAV, ITGA3 and ITGA6 were found to be nominally associated (0.01 En ligne : http://dx.doi.org/10.1002/aur.157 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115