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首页> 外文期刊>Molecular and Cellular Biology >Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing.
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Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing.

机译：人精氨酸琥珀酸酯合成酶基因的分子结构：发生其他mRNA剪接。

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摘要

The human genome contains one expressed argininosuccinate synthetase gene and ca. 14 pseudogenes that are dispersed to at least 11 human chromosomes. Eleven clones isolated from a human genomic DNA library were characterized extensively by restriction mapping, Southern blotting, and nucleotide sequencing. These 11 clones represent the entire expressed argininosuccinate synthetase gene that spans 63 kilobases and contains at least 13 exons. The expressed gene codes for two mRNAs that differ in their 5' untranslated sequences and arise by alternative splicing involving the inclusion or deletion of an entire exon. In normal human liver and cultured fibroblasts, the predominant mature argininosuccinate synthetase mRNA lacks sequences encoded by exon 2 in the expressed gene. In contrast, the predominant argininosuccinate synthetase mRNA in baboon liver contains exon 2 sequences. A transformed canavanine-resistant human cell line in which argininosuccinate synthetase activity is 180-fold higher than that in wild-type cells contains abundant amounts of both forms of the argininosuccinate synthetase mRNA. The mRNA lacking exon 2 sequences is the more abundant mRNA species in the canavanine-resistant cells. These observations show that splicing of the argininosuccinate synthetase mRNA is species specific in primates and varies among different human cell types.
机译：人类基因组包含一个表达的精氨琥珀酸合成酶基因，大约有一个。 14个假基因，分布在至少11条人类染色体上。从人类基因组DNA文库中分离的11个克隆通过限制性酶切图谱，Southern印迹和核苷酸测序进行了广泛表征。这11个克隆代表了整个表达的精氨琥珀酸合成酶基因，该基因横跨63个碱基，并包含至少13个外显子。所表达的基因编码两个mRNA，它们的5'非翻译序列不同，并且通过涉及整个外显子包含或缺失的选择性剪接而产生。在正常人的肝脏和培养的成纤维细胞中，主要的成熟精氨琥珀酸合成酶mRNA在表达的基因中缺少外显子2编码的序列。相反，狒狒肝脏中主要的精氨琥珀酸合成酶mRNA含有外显子2序列。精氨酸琥珀酸酯合成酶活性比野生型细胞高180倍的转化的犬精氨酸抗性人类细胞系含有大量的两种形式的精氨酸琥珀酸酯合成酶mRNA。缺少外显子2序列的mRNA是在卡那万碱抗性细胞中更丰富的mRNA种类。这些观察结果表明，精氨酸琥珀酸酯合成酶mRNA的剪接是灵长类中特异的物种，并且在不同的人类细胞类型之间变化。

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