Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene.

Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene.
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整个人类 pro alpha 1(II) 胶原蛋白基因的分离和部分表征。

DOI:
10.1093/nar/13.7.2207
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发表时间:
1985
影响因子:
14.9
通讯作者:
Ramirez,F
Ramirez,F
中科院分区:
生物学2区
文献类型:
--
作者:
Sangiorgi,FO;Benson-Chanda,V;deWet,WJ;Sobel,ME;Tsipouras,P;Ramirez,F

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使用特异于牛II型前胶原的cDNA探针,分离出一系列含有45 kb连续人DNA的重叠基因组克隆。54 bp外显子(编号29)的测序提供了重组克隆携带人II型胶原序列的直接证据。基因5′和3′端的定位表明,人II型胶原基因的大小为30 kb。该值显著高于同源禽类基因的值。多态性限制性位点在信息家族中的分离最终证明了II型基因在人类单倍体基因组中以单拷贝存在。最后,三螺旋结构域外显子的测序证实,在原纤维胶原分化后,在proαl(I)基因中发生了导致两个外显子融合的重排。
Using a cDNA probe specific for the bovine Type II procollagen, a series of overlapping genomic clones containing 45 kb of contiguous human DNA have been isolated. Sequencing of a 54 bp exon, number 29, provided direct evidence that the recombinant clones bear human Type II collagen sequences. Localization of the 5′ and 3′ ends of the gene indicated that the human Type II collagen gene is 30 kb in size. This value is significantly higher than that of the homologous avian gene. The segregation of a polymorphic restriction site in informative families conclusively demonstrated that the Type II gene is found in a single copy in the human haploid genome. Finally, sequencing of a triple helical domain exon has confirmed that a rearrangement leading to the fusion of two exons occurred in the proαl(I) gene, following the divergence of the fibrillar collagens.
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发表时间: 1979
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