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狒狒载脂蛋白C-I:cDNA、基因结构与进化

Baboon apolipoprotein C-I: cDNA and gene structure and evolution.

作者信息

Pastorcic M, Birnbaum S, Hixson J E

机构信息

Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78228.

出版信息

Genomics. 1992 Jun;13(2):368-74. doi: 10.1016/0888-7543(92)90255-q.

Abstract

We have isolated and characterized cDNA and genomic clones for apolipoprotein C-I (apoC-I) encoded by the APOC1 locus in baboons. Baboon apoC-I cDNA is only 410 bp in size, but the gene spans 4.5 kb including four small exons and three introns containing a large number of Alu repeats. The coding sequences of apoC-I cDNA and genomic clones are identical, indicating that this genomic clone contains the functional gene for apoC-I rather than a pseudogene like human APOC1'. We also detected a second gene in Southern blots of baboon genomic DNA that may correspond to the human APOC1' pseudogene. Two start sites for baboon APOC1 transcription were mapped to nucleotides that are 7 and 9 bp downstream from the predominant start site for human APOC1 transcription. Alignment of Alu repeats showed that the 5' region of the baboon APOC1 gene is more similar to that of the human pseudogene APOC1', and the 3' region and coding sequences are more similar to those of human APOC1. These regions are separated by an Alu repeat that is present only in the baboon gene, perhaps reflecting its role in gene rearrangement or conversion. Sequence comparisons from baboon, human, dog, and rat showed extensive differences in apoC-I amino acid sequences, which are less conserved than nucleotide sequences. However, comparisons of hydrophilicity profiles show significant conservation of protein domains that may be important for apoC-I function.

摘要

我们已经分离并鉴定了狒狒中由APOC1基因座编码的载脂蛋白C-I(apoC-I)的cDNA和基因组克隆。狒狒apoC-I cDNA大小仅为410 bp,但该基因跨度为4.5 kb,包括四个小外显子和三个内含子,内含大量Alu重复序列。apoC-I cDNA和基因组克隆的编码序列相同,这表明该基因组克隆包含apoC-I的功能基因,而不是像人类APOC1'那样的假基因。我们还在狒狒基因组DNA的Southern印迹中检测到第二个基因,它可能对应于人类APOC1'假基因。狒狒APOC1转录的两个起始位点被定位到比人类APOC1转录的主要起始位点下游7和9 bp的核苷酸处。Alu重复序列的比对显示,狒狒APOC1基因的5'区域与人类假基因APOC1'的5'区域更相似,而其3'区域和编码序列与人类APOC1的更相似。这些区域被一个仅存在于狒狒基因中的Alu重复序列隔开,这可能反映了它在基因重排或转换中的作用。来自狒狒、人类、狗和大鼠的序列比较显示,apoC-I氨基酸序列存在广泛差异,其保守程度低于核苷酸序列。然而,亲水性图谱的比较显示蛋白质结构域有显著的保守性,这些结构域可能对apoC-I的功能很重要。

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