Inosine-specific ribonuclease activity of natural variants of human endonuclease V.
Inosine-specific ribonuclease activity of natural variants of human endonuclease V.
复制标题
人核酸内切酶 V 天然变体的肌苷特异性核糖核酸酶活性。
DOI：
10.1002/1873-3468.12470
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Kuraoka I.
中科院分区：
文献类型：
--
作者：
Kim JI;Tohashi K;Iwai S;Kuraoka I.
DNA、RNA 和核苷酸中的腺嘌呤碱基在正常代谢过程中通过水解和亚硝化反应脱氨基。在 RNA 中，脱氨基产物肌苷由人核酸内切酶 V 分解，缺乏这种酶的小鼠容易患癌症。我们现已生产、纯化并表征了人核酸内切酶 V 的天然变体（V29I、R112Q、K114R、H141Y 和 D201N）。我们发现 H141Y（而非其他变体）催化受损，这表明 H141Y 纯合子个体可能易患疾病。
Adenine bases in DNA, RNA, and nucleotides are deaminated during normal metabolism via hydrolytic and nitrosative reactions. In RNA, the deaminated product inosine is resolved by human endonuclease V, and mice deficient in this enzyme are cancer‐prone. We have now produced, purified, and characterized naturally occurring variants of human endonuclease V (V29I, R112Q, K114R, H141Y, and D201N). We found that H141Y, but not other variants, is catalytically impaired, suggesting that individuals homozygous for H141Y may be predisposed to disease.