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人III型前胶原基因(COL3A1)5'端部分的克隆与分析

Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).

作者信息

Benson-Chanda V, Su M W, Weil D, Chu M L, Ramirez F

机构信息

Department of Microbiology and Immunology, State University of New York, Brooklyn 11203.

出版信息

Gene. 1989 May 30;78(2):255-65. doi: 10.1016/0378-1119(89)90228-x.

DOI:10.1016/0378-1119(89)90228-x
PMID:2777083
Abstract

We have isolated overlapping clones containing the 5'-terminal portion of the human pro-alpha 1(III) collagen gene (COL3A1). This has enabled us to extend our previous studies and thus generate a restriction map of nearly 64 kb of DNA encompassing all of COL3A1 and more than 20 kb of flanking sequences. Aside from the complete nucleotide and amino acid sequences of type-III N-pre-propeptide, this study has established the number of the corresponding exons, whose relative organization deviates from the pattern observed in the analogous regions of type-I procollagen genes, COL1A1 and COL1A2. Moreover, we have sequenced 1628 bp of the 5'-flanking region of COL3A1, from the transcription start point (tsp) to an AluI repetitive element. Pairwise comparison with the analogous segment of the mouse gene has showed 78% sequence similarity in nearly 270 bp immediately preceding the tsp and including the TATA element and a presumptive NF-1 binding site. Relatively close to the tsp, but upstream from the region of homology with the murine gene, a potential AP-1 binding site has also been identified.

摘要

我们已经分离出了包含人原α1(III)胶原基因(COL3A1)5'-末端部分的重叠克隆。这使我们能够扩展之前的研究,从而生成一个近64 kb DNA的限制性图谱,该图谱涵盖了整个COL3A1以及超过20 kb的侧翼序列。除了III型N-前原肽的完整核苷酸和氨基酸序列外,本研究还确定了相应外显子的数量,其相对组织方式与I型前胶原基因COL1A1和COL1A2类似区域中观察到的模式不同。此外,我们对COL3A1的5'-侧翼区域进行了1628 bp的测序,从转录起始点(tsp)到一个AluI重复元件。与小鼠基因的类似片段进行成对比较显示,在tsp之前紧邻的近270 bp区域,包括TATA元件和一个假定的NF-1结合位点,序列相似性为78%。在相对靠近tsp但位于与小鼠基因同源区域上游的位置,还鉴定出了一个潜在的AP-1结合位点。

相似文献

1
Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).人III型前胶原基因(COL3A1)5'端部分的克隆与分析
Gene. 1989 May 30;78(2):255-65. doi: 10.1016/0378-1119(89)90228-x.
2
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Organization of the exons coding for pro alpha 1(II) collagen N-propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes.编码原α1(II)型胶原蛋白N端前肽的外显子组织证实了纤维状胶原蛋白基因这一结构域独特的进化史。
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引用本文的文献

1
Mutation of the 5'-untranslated region stem-loop structure inhibits α1(I) collagen expression in vivo.突变 5'-非翻译区茎环结构抑制体内 α1(I) 胶原的表达。
J Biol Chem. 2011 Mar 11;286(10):8609-8619. doi: 10.1074/jbc.M110.189118. Epub 2010 Dec 30.
2
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.III型前胶原的一个COL3A1等位基因单倍剂量不足会导致一种类似于埃勒斯-当洛综合征血管型(IV型埃勒斯-当洛综合征)的表型。
Am J Hum Genet. 2001 Nov;69(5):989-1001. doi: 10.1086/324123. Epub 2001 Sep 27.
3
Regulatory role of the conserved stem-loop structure at the 5' end of collagen alpha1(I) mRNA.
胶原蛋白α1(I)mRNA 5'端保守茎环结构的调控作用。
Mol Cell Biol. 1999 Jun;19(6):4334-42. doi: 10.1128/MCB.19.6.4334.
4
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.COL3A1基因的剪接缺陷:外显子跳跃突变和IV型埃勒斯-当洛综合征患者中5'(供体)剪接位点突变的明显偏好。
Am J Hum Genet. 1997 Dec;61(6):1276-86. doi: 10.1086/301641.
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The chick type III collagen gene contains two promoters that are preferentially expressed in different cell types and are separated by over 20 kb of DNA containing 23 exons.鸡的III型胶原蛋白基因包含两个启动子,它们在不同细胞类型中优先表达,且被一段超过20kb的含有23个外显子的DNA分隔开。
Nucleic Acids Res. 1997 Jun 15;25(12):2470-7. doi: 10.1093/nar/25.12.2470.
6
A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific.COL3A1基因中一种双态性的类Alu Sb插入具有种族特异性。
J Mol Evol. 1996 Feb;42(2):117-23. doi: 10.1007/BF02198836.
7
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.III型胶原蛋白(COL3A1)等位基因中具有异常末端的多外显子缺失导致的亲本体细胞和生殖系嵌合现象,在杂合子后代中产生了IV型埃勒斯-当洛综合征。
Am J Hum Genet. 1993 Jul;53(1):62-70.
8
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.由IV型埃勒斯-当洛综合征中COL3A1基因的外显子17跳跃突变产生的异常III型胶原蛋白未整合到细胞外基质中。
Biochem J. 1995 Nov 1;311 ( Pt 3)(Pt 3):939-43. doi: 10.1042/bj3110939.
9
New nucleotide sequence data on the EMBL File Server.欧洲分子生物学实验室文件服务器上的新核苷酸序列数据。
Nucleic Acids Res. 1989 Sep 25;17(18):7553-78. doi: 10.1093/nar/17.18.7553.
10
Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen.
Nucleic Acids Res. 1989 Aug 25;17(16):6742. doi: 10.1093/nar/17.16.6742.