Toward the identification of the genes for hereditary microcephaly

遗传性小头畸形基因的鉴定

• 批准号: 20390100
• 负责人: MATSUURA Shinya
• 金额: $ 12.65万
• 依托单位: Hiroshima University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20390100/
• 关键词: 分子遺伝学; DNA修復; 小頭症; 遺伝病; 変異; 染色体

We have collected DNA samples of 11 Japanese patients with hereditary sever microcephaly from 10 families, and analyzed for mutations in the DNA repair genes. Two patients had mutations in the MRE11A gene, and two patients had mutations in the Pericentrin gene. It was assumed that, in these patients, DNA damage accumulated in neuronal cells, and these cells were eliminated by apoptotic cell death, leading to development of microcephaly.

我们收集了来自日本10个家族的11例遗传性严重小头症患者的DNA样本，分析了DNA修复基因的突变。两名患者的MRE11A基因发生突变，两名患者的心包膜蛋白基因发生突变。据推测，在这些患者中，DNA损伤在神经元细胞中积累，这些细胞因凋亡细胞死亡而被消除，导致小头畸形的发生。

项目成果

Absence of Ku70 Gene Obliterates X-Ray-Induced lacZ Mutagenesis of Small Deletions in Mouse Tissues

• DOI: 10.1667/rr1283.1
• 发表时间: 2008-08
• 作者: Y. Uehara;H. Ikehata;J. Komura;A. Ito;Masaki Ogata;T. Itoh;R. Hirayama;Y. Furusawa;K. Ando;T. Paunesku;G. Woloschak;K. Komatsu;S. Matsuura;T. Ikura;K. Kamiya;T. Ono

Mole cularpa thogenesiso fanove lMRE11Amutatio nintwo patients with Nijmegen breakagesyndro me-likesevere microce phaly

分子病理发生 lMRE11 突变 9 例奈梅亨断裂综合征样严重小头畸形患者

• 发表时间: 2011
• 作者: MiyamotoT;MatsumotoY;SakamotoH;NakazawaY;OgiT;MatsuuraS
• 通讯作者: MatsuuraS

遺伝性小頭症MOPDIIで同定されたPericentrin遺伝子変異と細胞周期異常

遗传性小头畸形 MOPDII 中发现的 Pericentrin 基因突变和细胞周期异常

• 发表时间: 2009
• 作者: 坂本裕美;宮本達雄;松本祥幸;小沢浩;長谷川奉延;松浦伸也
• 通讯作者: 松浦伸也

HpSulf, a heparan sulfate 6-0-endosulfatase, is involved in the regulation of VEGF signaling during sea urchin development.

HpSulf 是一种硫酸乙酰肝素 6-0-内切硫酸酯酶，参与海胆发育过程中 VEGF 信号传导的调节。

• 发表时间: 2010
• 期刊: Mech Dev 127
• 作者: Fujita;K.;et al.
• 通讯作者: et al.

NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1

• DOI: 10.1667/rr1357.1
• 发表时间: 2008-09-01
• 期刊: RADIATION RESEARCH
• 影响因子: 3.4
• 作者: Antoccia, A.;Sakamoto, S.;Komatsu, K.
• 通讯作者: Komatsu, K.