Molecular analysis of craio-facial abnormalities found in the Sez12 knockout mice

Sez12 基因敲除小鼠颅面部异常的分子分析

• 批准号: 22592050
• 负责人: KAJIWARA Kagemasa
• 金额: $ 2.91万
• 依托单位: Tokai University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22592050/
• 关键词: 22q11.2欠失症候群; ノックアウトマウス; Sez12遺伝子; 顎形態形成; 22q11欠失症候群; 軟骨内骨化; Dgcr2; Sez12; Tbx1; GFP; 関節軟骨; 鼻中隔; CT; Neural crest cell

In this study, we investigated the relationship between the phenotype shown in the homozygous Sez12 knockout mice (Sez12-KO mice) and distribution of the knockin eGFP expression. We demonstrate that the Sez12 plays an important role in skeletal growth, such as cranial neural crest development during embryogenesis and endochondral ossification after birth. Furthermore, the Sez12 upregulation affected cell survival under a condition such as serum depletion. These findings suggest that the Sez12 is responsible for cell differentiation and maintenanceof the differentiating cells, which cause skeletal abnormalities in mice including craniofacial malformation.We analyzed the neuropathic pain and psychological outcome of patients following oral surgery.

在这项研究中，我们研究了纯合SEZ12基因敲除小鼠（SEZ12-KO小鼠）中所示的表型与敲除EGFP表达的分布之间的关系。我们证明，SEZ12在骨骼生长中起着重要作用，例如胚胎神经rest发育期间的胚胎发生和出生后的软骨内骨化。此外，SEZ12上调在血清耗竭等疾病下影响细胞存活。这些发现表明，SEZ12负责分化细胞的细胞分化和维持，这些细胞在包括颅面畸形的小鼠中引起骨骼异常。我们分析了口腔外科后患者的神经性疼痛和心理结果。

项目成果

梶原 景正 研究ユニット

梶原影政研究所

Pronuclear injection-based mouse targeted transgenesis for reproducible and highly efficient transgene expression

• DOI: 10.1093/nar/gkq860
• 发表时间: 2010-12-01
• 期刊: NUCLEIC ACIDS RESEARCH
• 影响因子: 14.9
• 作者: Ohtsuka, Masato;Ogiwara, Sanae;Inoko, Hidetoshi
• 通讯作者: Inoko, Hidetoshi

Selective overexpression of Comt in prefrontal cortex rescues schizophrenia-like phenotypes in a mouse model of 22q11 deletion syndrome.

• DOI: 10.1038/tp.2012.70
• 发表时间: 2012-08-07
• 期刊: Translational psychiatry
• 影响因子: 6.8
• 作者: Kimoto S;Muraki K;Toritsuka M;Mugikura S;Kajiwara K;Kishimoto T;Illingworth E;Tanigaki K
• 通讯作者: Tanigaki K

DGCR2遺伝子のマウスホモログSez12遺伝子ノックアウトマウスの胸腺細胞分化の解析

DGCR2基因同系物Sez12基因敲除小鼠胸腺细胞分化分析

• 发表时间: 2010
• 作者: 麥倉信一郎;梶原景正;木村穣
• 通讯作者: 木村穣

顎顔面領域の形態形成に関わるDgcr2ホモログSez12とTbx1との比較解析

Dgcr2同源物Sez12和Tbx1参与颌面部形态发生的比较分析

• 发表时间: 2011
• 作者: 梶原景正;木村穣
• 通讯作者: 木村穣