[article]
| Titre : |
The neurobiology of mouse models syntenic to human chromosome 15q |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
T. TAKUMI, Auteur |
| Article en page(s) : |
p.270-81 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism is a neurodevelopmental disorder that manifests in childhood as social behavioral abnormalities, such as abnormal social interaction, impaired communication, and restricted interest or behavior. Of the known causes of autism, duplication of human chromosome 15q11-q13 is the most frequently associated cytogenetic abnormality. Chromosome 15q11-q13 is also known to include imprinting genes. In terms of neuroscience, it contains interesting genes such as Necdin, Ube3a, and a cluster of GABA(A) subunits as well as huge clusters of non-coding RNAs (small nucleolar RNAs, snoRNAs). Phenotypic analyses of mice genetically or chromosomally engineered for each gene or their clusters on a region of mouse chromosome seven syntenic to human 15q11-q13 indicate that this region may be involved in social behavior, serotonin metabolism, and weight control. Further studies using these models will provide important clues to the pathophysiology of autism. This review overviews phenotypes of mouse models of genes in 15q11-q13 and their relationships to autism. |
| En ligne : |
http://dx.doi.org/10.1007/s11689-011-9088-1 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 |
in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.270-81
[article] The neurobiology of mouse models syntenic to human chromosome 15q [Texte imprimé et/ou numérique] / T. TAKUMI, Auteur . - p.270-81. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.270-81
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism is a neurodevelopmental disorder that manifests in childhood as social behavioral abnormalities, such as abnormal social interaction, impaired communication, and restricted interest or behavior. Of the known causes of autism, duplication of human chromosome 15q11-q13 is the most frequently associated cytogenetic abnormality. Chromosome 15q11-q13 is also known to include imprinting genes. In terms of neuroscience, it contains interesting genes such as Necdin, Ube3a, and a cluster of GABA(A) subunits as well as huge clusters of non-coding RNAs (small nucleolar RNAs, snoRNAs). Phenotypic analyses of mice genetically or chromosomally engineered for each gene or their clusters on a region of mouse chromosome seven syntenic to human 15q11-q13 indicate that this region may be involved in social behavior, serotonin metabolism, and weight control. Further studies using these models will provide important clues to the pathophysiology of autism. This review overviews phenotypes of mouse models of genes in 15q11-q13 and their relationships to autism. |
| En ligne : |
http://dx.doi.org/10.1007/s11689-011-9088-1 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 |
|
The neurobiology of mouse models syntenic to human chromosome 15q in Journal of Neurodevelopmental Disorders, 3-3 (September 2011)
