論文 - 詳細
| RRC ID | 17577 |
|---|---|
| 著者 | Morita A, Nakahira K, Hasegawa T, Uchida K, Taniguchi Y, Takeda S, Toyoda A, Sakaki Y, Shimada A, Takeda H, Yanagihara I. |
| タイトル | Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). |
| ジャーナル | Dev Growth Differ |
| Abstract |
Roberts syndrome and SC phocomelia (RBS/SC) are genetic autosomal recessive syndromes caused by establishment of cohesion 1 homolog 2 ( ESCO 2) mutation. RBS/SC appear to have a variety of clinical features, even with the same mutation of the ESCO2 gene. Here, we established and genetically characterized a medaka model of RBS/SC by reverse genetics. The RBS/SC model was screened from a mutant medaka library produced by the Targeting Induced Local Lesions in Genomes method. The medaka mutant carrying the homozygous mutation at R80S in the conserved region of ESCO2 exhibited clinical variety (i.e. developmental arrest with craniofacial and chromosomal abnormalities and embryonic lethality) as characterized in RBS/SC. Moreover, widespread apoptosis and downregulation of some gene expression, including notch1a, were detected in the R80S mutant. The R80S mutant is the animal model for RBS/SC and a valuable resource that provides the opportunity to extend knowledge of ESCO2. Downregulation of some gene expression in the R80S mutant is an important clue explaining non-correlation between genotype and phenotype in RBS/SC. |
| 巻・号 | 54(5) |
| ページ | 588-604 |
| 公開日 | 2012-6-1 |
| DOI | 10.1111/j.1440-169X.2012.01362.x |
| PMID | 22694322 |
| MeSH | Acetyltransferases / genetics* Acetyltransferases / metabolism Animals Apoptosis / genetics Cloning, Molecular Craniofacial Abnormalities / genetics* Craniofacial Abnormalities / metabolism Disease Models, Animal* Ectromelia / genetics* Ectromelia / metabolism Genotype Hypertelorism / genetics* Hypertelorism / metabolism Oryzias* / genetics Oryzias* / metabolism Phenotype Polymorphism, Single Nucleotide Receptor, Notch1 / biosynthesis Reverse Genetics |
| IF | 1.723 |
| 引用数 | 6 |
| WOS 分野 | DEVELOPMENTAL BIOLOGY CELL BIOLOGY |
| オルトメトリクス指標 |
オルトメトリクス指標項目
|
| 各媒体での言及数の合計 | 0 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| メダカ | ESCO2^R80S (MT924) WS338 WS339 TILLING_MUTANT |