Positional cloning of the genes related to malformations of eye, anus and heart

眼、肛门、心脏畸形相关基因的定位克隆

基本信息

  • 批准号:
    06670824
  • 负责人:
  • 金额:
    $ 1.41万
  • 依托单位:
  • 依托单位国家:
    日本
  • 项目类别:
    Grant-in-Aid for General Scientific Research (C)
  • 财政年份:
    1994
  • 资助国家:
    日本
  • 起止时间:
    1994 至 1995
  • 项目状态:
    已结题

项目摘要

We have approached the disease-responsible genes for eye, anus and heart malformation in cat eye syndrome (CES) and obtained the following results.(1) We have constructed BAC/cosmid contigs of the CES chromosomal region (CER ; 1.9 Mb in size). We used two DNA libraries, a CES region-specific cosmid library (9,200 clones ; redundancy, 10) from the flow-sorted marker chromosomes of a CES cell line CH91-157 and a BAC library (200,000 clones ; redundancy, 7.5) from human total DNA,both of which were established by ourselves. A number of known DNA markers, newly established STS's from cosmid clones, and YAC clones isolated with these DNA markers were used to screen the BAC and CES cosmid libraries, and as a result 1,740 cosmids and 116 BAC clones were isolated. The vectorette PCR method and fingerprinting have been applied to construct BAC/cosmid contigs. To date, 6 contigs consisting of 36 BAC and 43 cosmid clones have been constructed to cover>1.4 Mb region.(2) Genomic sequencing of 4 BAC and 4 cosmid clones have almost been finished which covers -500 kb in CER.We have encountered a great difficulty to construct contigs and determine the sequence of this peri-centromeric region due to high contents of repetitive sequences and high homology with other chromosomes such as chromosome 14 and other heterochromatin-containing chromosomes.(3) The DNA sequence is being analyzed by exon-prediction programs (GENSCAN,GRAIL) and homology search tools (BLAST,FASTA) followed by isolation of corresponding cDNA's.
我们研究了猫眼综合征(CES)中眼睛、肛门和心脏畸形的疾病相关基因,并获得了以下结果。(1)我们构建了 CES 染色体区域的 BAC/粘粒重叠群(CER;大小为 1.9 Mb)。我们使用了两个DNA文库,一个来自CES细胞系CH91-157的流式分选标记染色体的CES区域特异性粘粒文库(9,200个克隆;冗余,10)和一个来自人类总DNA的BAC文库(200,000个克隆;冗余,7.5),这两个文库都是我们自己建立的。使用许多已知的DNA标记、从粘粒克隆中新建立的STS以及用这些DNA标记分离的YAC克隆来筛选BAC和CES粘粒文库,结果分离出1,740个粘粒和116个BAC克隆。小载体 PCR 方法和指纹分析已应用于构建 BAC/粘粒重叠群。迄今为止,已构建了由36个BAC和43个粘粒克隆组成的6个重叠群,覆盖>1.4 Mb区域。(2)4个BAC和4个粘粒克隆的基因组测序已基本完成,覆盖CER中的-500 kb。由于重复序列含量高且与其他染色体(例如,其他染色体)同源性高,我们在构建重叠群和确定该着丝粒周围区域的序列时遇到了很大的困难。 如14号染色体和其他含有异染色质的染色体。(3)通过外显子预测程序(GENSCAN,GRAIL)和同源性搜索工具(BLAST,FASTA)分析DNA序列,然后分离相应的cDNA。

项目成果

期刊论文数量(70)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Wang,Y.: "Cot-1 banding of human chromosomes using fluorescence in situ hybridizatio with Cy3 labeling" Jpn.J.Human Genet.40. 243-252 (1995)
Wang,Y.:“利用带有 Cy3 标记的荧光原位杂交对人类染色体进行 Cot-1 显带”Jpn.J.Human Genet.40。
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    0
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Minoshima,S.: "Proceedings Genome Informatics Workshop 1996" Universal Academy Press,Inc.,Tokyo, 2 (1996)
Minoshima,S.:“Proceedings Genome Informatics Workshop 1996”Universal Academy Press,Inc.,东京,2 (1996)
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    0
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Minoshima, S.and Shimizu, N.: "Locus-in v.2 and Gene View ^<PLUS> : Computer Softwares for Entry and Analysis of the Human Genome Data" In Proceedings Genome Informatics Workshop V (eds) S.Miyano, T.Akutsu, H.Imai, O.Gotoh, T.Takagi. 196-197 (1994)
Minoshima, S. 和 Shimizu, N.:“Locus-in v.2 和 Gene View ^<PLUS>:用于输入和分析人类基因组数据的计算机软件”,收录在 Proceedings Genome Informatics Workshop V(eds)S.Miyano,
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    0
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Shimizu,N.: "Detection of the EGF receptor gene amplification in the human squamous cell carcinomas using FISH technique." Japanese Journal of Cancer Research. 85. 567-571 (1994)
Shimizu,N.:“使用 FISH 技术检测人类鳞状细胞癌中的 EGF 受体基因扩增。”
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    0
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Sakai,K.: "Human ribosomal RNA gene cluster:Identification of the proximal end containing a novel tandem repeat sequence." Genomics. (in press).
Sakai,K.:“人类核糖体 RNA 基因簇:含有新型串联重复序列的近端的鉴定。”
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MINOSHIMA Shinsei其他文献

MINOSHIMA Shinsei的其他文献

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{{ truncateString('MINOSHIMA Shinsei', 18)}}的其他基金

Investigation for the genetic factor of glaucoma in another viewpoint: an analysis of possible involvement of copy number variation (CNV) in genome
从另一个角度探讨青光眼的遗传因素:基因组拷贝数变异(CNV)可能参与的分析
  • 批准号:
    23592562
  • 财政年份:
    2011
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Exploration of disease-causative and -associated genes and prospect of novel molecular/cellular phenomenon
致病及相关基因的探索及新型分子/细胞现象的展望
  • 批准号:
    17019027
  • 财政年份:
    2005
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research on Priority Areas
Establishment of immortalized culture-cells derived from cone and rod photoreceptors and construction of in vitro model system of retinal diseases
视锥细胞和视杆细胞永生化培养细胞的建立及视网膜疾病体外模型体系的构建
  • 批准号:
    17390468
  • 财政年份:
    2005
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Construction of an integrated knowledge-base for mutations in disease-responsible genes and polymorphisms in disease-related genes
疾病相关基因突变和疾病相关基因多态性综合知识库的构建
  • 批准号:
    14013053
  • 财政年份:
    2002
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research on Priority Areas
Fine analysis of low copy repeat sequences which cause diseases by chromosomal microdeletion/microduplication and complete identification of content genes within them
精细分析因染色体微缺失/微重复引起疾病的低拷贝重复序列,并完整鉴定其中的内容基因
  • 批准号:
    13470167
  • 财政年份:
    2001
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Cloning of disease-causing genes for the syndrome with congenital heart malformations
先天性心脏畸形综合征致病基因的克隆
  • 批准号:
    08457231
  • 财政年份:
    1996
  • 资助金额:
    $ 1.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
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