ANALYSIS OF TEMPERATURE SENSITIVE IN PEROXISOME BIOGENESIS DISORDERS

过氧化物酶体生物发生紊乱中温度敏感的分析

• 批准号: 13670791
• 负责人: SHIMOZAWA Nobuyuki
• 金额: $ 2.5万
• 依托单位: Gifu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2001
• 资助国家: 日本
• 起止时间: 2001 至 2002
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-13670791/
• 关键词: PEROXISOME; TEMPERATURE SENSITIVE; THREE-DEMENTIONAL STRUCTURE; INTRACELLULAR PROTEIN SORTING; タンパク細胞内輸送; ペルオキシソーム

(1) We identified milder forms of Peroxisomal Biogenesis Disorders (PBD) were characterized by temperature sensitive (TS) mutation in the PEX13 gene.(2) To clarify the mechanism of TS phenomenon, we analyze Pex13p-Pex14p interaction by three-dementional structure.(3) We analyzed 286 Japanese patients with X-linked adrenoleukodystrophy (ALD), to clarify the epidemiology of ALD in Japan. The incidence of ALD in Japan was estimated to be between 1:3000 and 1:50000 boys.(4) We identified 31 Japanese patients with peroxisome biogenesis disorders (PBDs). All 11 ZS patients in group B had a common mutation, a 2 base pair deletion in the PEX10 gene, homozygously. This mutation apparently arose once on an ancestral chromosome in the Japanese population. The incidence of the PBDs in Japan was estimated to be approximately 1 in 500,000 births

(1)我们鉴定了以PEX 13基因中的温度敏感性（TS）突变为特征的轻度形式的过氧化物酶体生物发生障碍（PBD）。(2)为了阐明TS现象的机理，我们从三维结构上分析了Pex 13 p-Pex 14 p相互作用。(3)我们分析了286例日本X连锁肾上腺脑白质营养不良（ALD）患者，以阐明ALD在日本的流行病学。据估计，日本ALD的发病率为1：3000至1：50000男孩。(4)我们确定了31例日本患者的过氧化物酶体生物合成障碍（PBD）。B组的所有11名ZS患者都有一个共同的突变，即PEX 10基因中的2个碱基对缺失，同源。这种突变显然出现在日本人的祖先染色体上。在日本，PBD的发病率估计约为50万分之一

项目成果

T.Takemoto, N Shimozawa et al.: "Epidemiology of X-linked adrenoleukodystrophy in Japan"J Hum Genet. 47. 590-593 (2002)

T.Takemoto、N Shimozawa 等：“日本 X 连锁肾上腺脑白质营养不良的流行病学”J Hum Genet。

Ito R, Shimozawa N et al.: "Temperature-sensitive phenotype of Chinese hamster ovary cells defective in PEX5 gene"Biochem Biophys Res Commun. 288. 321-327 (2001)

Ito R、Shimozawa N 等：“PEX5 基因缺陷的中国仓鼠卵巢细胞的温度敏感表型”Biochem Biophys Res Commun。

Raas-Rothschild A, Shimozawa N et al.: "A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotyp"Am J Hum Genet. 70. 1062-1068 (2002)

Raas-Rothschild A、Shimozawa N 等人：“婴儿中具有严重表型的 PEX6 缺陷性过氧化物酶体生物发生障碍与轻度表型”Am J Hum Genet。

Raas-Rothschild A, Shimozawa N et al.: "A PEX6-Defective Peroxisome Biogenesis Disorder with Severe phenotype in an infant versus Mild Phenotype"Am J Hum Genet. 70. 1062-1068 (2002)

Raas-Rothschild A、Shimozawa N 等人：“婴儿中具有严重表型与轻度表型的 PEX6 缺陷性过氧化物酶体生物合成障碍”Am J Hum Genet。

N.Shimozawa et al.: "Genetic heterogeneity of Peroxisome Biogenesis Disorders among Japanese patient"Am J Med Genet. (in press).

N.Shimozawa 等人：“日本患者过氧化物酶体生物发生障碍的遗传异质性”Am J Med Genet。