Molecular cytogenetic study of the Fukuyama-type muscular dystrophy caused by the aberration of the untranslated region of the gene(FCMD)
基因非翻译区畸变引起的福山型肌营养不良症(FCMD)的分子细胞遗传学研究
基本信息
- 批准号:11670612
- 负责人:
- 金额:$ 2.24万
- 依托单位:
- 依托单位国家:日本
- 项目类别:Grant-in-Aid for Scientific Research (C)
- 财政年份:1999
- 资助国家:日本
- 起止时间:1999 至 2000
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
Fukuyama-type congenital muscular dystrophy(FCMD)is an autosomal recessive disease in Japan(incidence is 0.7-1.2 per 10,000 births). Though Prof.Toda(co-investigator)et al.had recently identified a retro-transposal insertion of tandem repeats in the 3' untranslated region(UTR)of FCMD gene at 9q31(the founder haplotype)in the patients, the molecular mechanism of the causing disease has been still unknown. In this research project, we have succeeded in the detection of the transcript of FCMD within the nucleus by the method of in istu hybridization(ISH), and performed the two-color ISH method using various DNA clones investigate the dynamism of mRNAs in the cell nucleus of the patients. The results showed that the level of the transcripts of FCMD in the patients was very low(〜20%)in comparison with the normal individuals, which confirm the result of the molecular study by the co-investigator, which indicate that FCMD patients have the abnormality of the mRNA metabolism and mRNA of the mutant allele is transcribed but low or the stability of the transcript was low. As this may provide a key point to study the pathogenesis of the disease, we will make a further study to resolve the problem.
福山型先天性肌营养不良症(FCMD)是日本的一种常染色体隐性遗传病(发病率为0.7-1.2‰)。尽管Toda教授(合作者)等人最近在FCMD基因的9q31(创始人单倍型)的3‘非翻译区(UTR)上发现了串联重复序列的逆转录转座插入,但其致病的分子机制仍不清楚。在本研究项目中,我们成功地用原位杂交(ISU)的方法检测了FCMD在细胞核内的转录本,并用不同的DNA克隆进行了双色ISH方法,研究了患者细胞核内mRNAs的动态变化。结果显示,FCMD患者的FCMD转录本水平很低(~20%),这与协作人的分子研究结果相一致,说明FCMD患者存在基因代谢异常,突变等位基因的mRNA转录水平较低或转录本稳定性较差。由于这可能为研究该病的发病机制提供一个关键点,我们将进一步研究以解决这一问题。
项目成果
期刊论文数量(5)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Imoto I.: "Amplification and over-expression of TGIF2, a novel homeobox gene of the TALE superclass, in ovarian-cancer cell lines."Biochem. Biophys. Res. Commun.. 276. 264-270 (2000)
Imoto I.:“TGIF2(TALE 超类的一种新型同源框基因)在卵巢癌细胞系中的扩增和过度表达。”Biochem。
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Sugimoto N.: "The human caspase-activated Dnase gene (hCAD): genomic structure, exonic single nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus."Journal of Human Genetics. 44・6. 408-411 (1999)
Sugimoto N.:“人类半胱天冬酶激活的 DNA 酶基因 (hCAD):基因组结构、外显子单核苷酸多态性和 hCAD 基因座的高度多态性二核苷酸重复。”人类遗传学杂志 44・6(1999 年)。 )
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Ueno M.: "Genomic organization, sequence and chromosomal localization of the mouse Tbr2 gene and a comparative study with Tbr1."Gene. 254. 29-35 (2000)
Ueno M.:“小鼠 Tbr2 基因的基因组组织、序列和染色体定位以及与 Tbr1 的比较研究。”基因。
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Uchida S., Tanaka Y., Ito H., Saito-Ohara F., Inazawa J., Yokoyama K.K., Sasaki S.& Marumo F.: "Transcriptional regulation of the CLC-K1 promoter by myc-associated zinc finger protein and Kidney-Enriched Kruppel-like factor, a novel zinc finger repressor.
内田 S.、田中 Y.、伊藤 H.、齐藤大原 F.、稻泽 J.、横山 K.K.、佐佐木 S.
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SAITO Fumiko其他文献
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{{ truncateString('SAITO Fumiko', 18)}}的其他基金
Molecular cytogenetic study of the myotonic dystrophy by in situ hybrdization (ISH)
原位杂交(ISH)对强直性肌营养不良的分子细胞遗传学研究
- 批准号:
09670644 - 财政年份:1997
- 资助金额:
$ 2.24万 - 项目类别:
Grant-in-Aid for Scientific Research (C)