Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
1 recherche sur le mot-clé 'promoter analysis'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Association and Promoter Analysis of AVPR1A in Finnish Autism Families / Katri KANTOJARVI in Autism Research, 8-5 (October 2015)
[article]
Titre : Association and Promoter Analysis of AVPR1A in Finnish Autism Families Type de document : Texte imprimé et/ou numérique Auteurs : Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur Article en page(s) : p.634-639 Langues : Anglais (eng) Mots-clés : autism AVPR1A association transcription factors network analysis promoter analysis MEF2C PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270
in Autism Research > 8-5 (October 2015) . - p.634-639[article] Association and Promoter Analysis of AVPR1A in Finnish Autism Families [Texte imprimé et/ou numérique] / Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur . - p.634-639.
Langues : Anglais (eng)
in Autism Research > 8-5 (October 2015) . - p.634-639
Mots-clés : autism AVPR1A association transcription factors network analysis promoter analysis MEF2C PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270