Human urate oxidase gene: cloning and partial sequence analysis reveal a stop codon within the fifth exon.
Human urate oxidase gene: cloning and partial sequence analysis reveal a stop codon within the fifth exon.
复制标题
人尿酸氧化酶基因：克隆和部分序列分析揭示了第五外显子内的终止密码子。
DOI：
10.1016/0006-291x(90)91194-w
复制
发表时间：
1990
影响因子：
3.1
通讯作者：
Reddy,JK
中科院分区：
文献类型：
--
作者：
Yeldandi,AV;Wang,XD;Alvares,K;Kumar,S;Rao,MS;Reddy,JK
利用大鼠尿酸氧化酶cDNA和精选的基因组探针，筛选了人类基因组文库，分离出7个克隆；其中一个克隆（克隆13）包含与大鼠尿酸氧化酶基因的5、6、7外显子对应的外显子区域。测定了这三个外显子和外显子/内含子连接的核苷酸序列，并与大鼠基因的序列进行了比较。在人类尿酸氧化酶基因的第5外显子中发现了导致终止密码子TGA的突变。对来自4个不同个体的DNA样本中与尿酸氧化酶第5外显子对应的聚合酶链反应扩增DNA进行序列分析，证实所有个体的TGA终止密码子相同。这种单终止密码子突变和/或该基因中的其他突变可能是人类缺乏尿酸氧化酶活性的原因。
Using the cDNA and selected genomic probes of rat urate oxidase, we have screened the human genomic library and isolated seven clones; one clone (clone 13) contained exonic regions which correspond to the exons 5, 6, and 7 of rat urate oxidase gene. The nucleotide sequence was determined for these three exons and exon/intron junctions, and compared with the sequence from the rat gene. A mutation resulting in a stop codon TGA was found in the fifth exon of the human urate oxidase gene. Sequence analysis of the polymerase chain reaction amplified DNA, corresponding to the fifth exon of urate oxidase from DNA samples from four different individuals, confirmed the same TGA stop codon in all. This single stop codon mutation and/or other mutation(s) in this gene may be responsible for the lack of urate oxidase activity in the human.