Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): Mechanisms for the genetic polymorphism of TPMT activity

Hung-Liang Tai; Eugene Y. Krynetski; Erin G. Schuetz

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Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT3A, TPMT2): Mechanisms for the genetic polymorphism of TPMT activity

机译：突变等位基因在人中编码的硫嘌呤S-甲基转移酶（TPMT）的增强蛋白水解（TPMT * 3A，TPMT * 2）：TPMT活性遗传多态性的机制

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TPMT is a cytosolic enzyme that catalyzes the S-methylation of aromatic and heterocyclic sulfhydryl compounds, including medications such as mercaptopurine and thioguanine. TPMT activity exhibits autosomal codomi- nant genetic polymorphism, and patients inheriting TPMT deficiency are at high risk of potentially fatal hematopoietic toxicity. The most prevalent mutant alleles associated with TPMT deficiency in humans have been cloned and character- ized (TPMT*2 and TPMT*3A), but the mechanisms for loss of catalytic activity have not been elucidated.

机译：TPMT是一种胞质酶，可催化芳香族和杂环巯基化合物的S-甲基化，包括巯基嘌呤和硫鸟嘌呤等药物。 TPMT活性表现出常染色体共基因遗传多态性，而遗传TPMT缺乏症的患者则具有潜在的致命造血毒性高风险。已经克隆并鉴定了人类中与TPMT缺乏症相关的最普遍的突变等位基因（TPMT * 2和TPMT * 3A），但尚未阐明丧失催化活性的机制。

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《Proceedings of the National Academy of Sciences of the United States of America》 |1997年第12期|p.6444-6449|共6页
作者
Hung-Liang Tai; Eugene Y. Krynetski; Erin G. Schuetz;
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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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正文语种 eng
中图分类自然科学总论;
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1. Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C. [J] . Tai HL, Fessing MY, Bonten EJ, Pharmacogenetics . 1999,第5期

机译：哺乳动物细胞中突变型人硫嘌呤S-甲基转移酶（TPMT）的增强蛋白酶体降解：TPMT * 2，TPMT * 3A，TPMT * 3B或TPMT * 3C继承的TPMT蛋白缺乏的机制。
2. Introducing a fast and simple PCR-RFLP analysis for the detection of mutant thiopurine S-methyltransferase alleles TPMT*3A and TPMT*3C. [J] . Oender K, Lanschuetzer CM, Laimer M, Journal of the European Academy of Dermatology and Venereology: JEADV . 2006,第4期

机译：介绍一种快速简单的PCR-RFLP分析方法，用于检测突变的硫代嘌呤S-甲基转移酶等位基因TPMT * 3A和TPMT * 3C。
3. Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT*2, *3A, *3B and *3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus. [J] . Kubota T, Chiba K British Journal of Clinical Pharmacology . 2001,第5期

机译：151名健康日本受试者中硫嘌呤S-甲基转移酶突变等位基因（TPMT * 2，* 3A，* 3B和* 3C）的频率以及TPMT * 3C在一个性命家庭中的遗传。
4. A new method for detecting polymorphisms in the TPMT gene based on Real Time PCR [C] . Kolorz M., Wroblova K., Bartosova L., European Congress of Pharmacology . 2012

机译：基于实时PCR检测TPMT基因多态性的新方法
5. Meta-Analysis: Effect of TPMT Genetic Variant Allele on Thiopurines Induced Toxicity [D] . Amtul, Hafsa. 2019

机译：荟萃分析：TPMT基因变异等位基因对硫嘌呤诱导的毒性的影响
6. Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT∗3A TPMT∗2): Mechanisms for the genetic polymorphism of TPMT activity [O] . Hung-Liang Tai, Eugene Y. Krynetski, Erin G. Schuetz, 1997

机译：突变等位基因在人中编码的硫嘌呤S-甲基转移酶（TPMT）的增强蛋白水解（TPMT * 3ATPMT * 2）：TPMT活性遗传多态性的机制
7. Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT*2, *3A, *3B and *3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus [O] . Kubota, T, Chiba, K 2002

机译：151名健康日本人体内硫嘌呤S-甲基转移酶突变等位基因（TPMT * 2，* 3A，* 3B和* 3C）的频率以及TPMT * 3C在一个性命家庭中的遗传

Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): Mechanisms for the genetic polymorphism of TPMT activity

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Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT3A, TPMT2): Mechanisms for the genetic polymorphism of TPMT activity