in / Joseph D. BUXBAUM| Titre : | A 15q11–q13 Duplication Mouse Model of Autism Spectrum Disorders | | Type de document : | texte imprimé | | Auteurs : | Toru TAKUMI, Auteur ; Keita FUKUMOTO, Auteur ; Jun NOMURA, Auteur | | Année de publication : | 2013 | | Importance : | p.401-408 | | Langues : | Anglais (eng) | | Index. décimale : | SCI-D SCI-D Neurosciences | | Résumé : | Autism spectrum disorders (ASD) are developmental brain disorders manifested by abnormal social behavior. Recent human genetic studies have revealed various copy number variations in ASD. Duplication of human chromosome 15q11–q13 is known to be most frequently associated with cytogenetic abnormality in ASD. Human chromosome 15q11–q13, also known to include imprinted genes, is well conserved to mouse chromosome 7. By a chromosome-engineering technique, we developed a mouse model for 15q11–q13 duplication. Paternally derived duplication (patDp/+) mice show abnormal behavior including abnormal social interaction, alteration in the developmental course of ultrasonic vocalizations, and resistance to change in reversal learning. Reduced serotonin (5-HT) is observed in the brain of patDp/+ mice during development, suggesting that this abnormal 5-HT level may affect social behavior. A 15q11–q13 duplication model mouse will facilitate future studies in genetics of developmental brain disorders and serve as an invaluable tool for therapeutic development. | | Permalink : | http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1893 |
in / Joseph D. BUXBAUMA 15q11–q13 Duplication Mouse Model of Autism Spectrum Disorders [texte imprimé] / Toru TAKUMI, Auteur ; Keita FUKUMOTO, Auteur ; Jun NOMURA, Auteur . - 2013 . - p.401-408. Langues : Anglais ( eng) | Index. décimale : | SCI-D SCI-D Neurosciences | | Résumé : | Autism spectrum disorders (ASD) are developmental brain disorders manifested by abnormal social behavior. Recent human genetic studies have revealed various copy number variations in ASD. Duplication of human chromosome 15q11–q13 is known to be most frequently associated with cytogenetic abnormality in ASD. Human chromosome 15q11–q13, also known to include imprinted genes, is well conserved to mouse chromosome 7. By a chromosome-engineering technique, we developed a mouse model for 15q11–q13 duplication. Paternally derived duplication (patDp/+) mice show abnormal behavior including abnormal social interaction, alteration in the developmental course of ultrasonic vocalizations, and resistance to change in reversal learning. Reduced serotonin (5-HT) is observed in the brain of patDp/+ mice during development, suggesting that this abnormal 5-HT level may affect social behavior. A 15q11–q13 duplication model mouse will facilitate future studies in genetics of developmental brain disorders and serve as an invaluable tool for therapeutic development. | | Permalink : | http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=1893 |
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