Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, United States of America.
Small Molecule Screening Facility, Carbone Cancer Center, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, United States of America.
PLoS One. 2019 Jul 16;14(7):e0219664. doi: 10.1371/journal.pone.0219664. eCollection 2019.
Phenylalanine and cysteine comprise common miss-sense variants (i.e., single nucleotide polymorphisms [SNPs]) at amino acid position 254 of the human indole(ethyl)amine-N-methyltransferase (hINMT). The phenylalanine variant, which occurs in linkage disequilibrium with two 3' UTR SNPs, has been reported to associate with elevated urine levels of trimethylselenonium (TMSe), the Se-methylated product of volatile dimethylselenide. hINMT allozymes expressing either cysteine (254C) or phenylalanine (254F) at position 254 were compared for enzyme activity (i.e., Km and Vmax) towards the INMT substrates tryptamine, dimethylsulfide (DMS) and dimethylselenide (DMSe) in vitro. The SNP 254C had a higher Vmax for DMS and tryptamine in the presence of reducing agent than in its absence. Conversely, Vmax for 254F was insensitive to the presence or absence of reducing agent for these substrates. SNP 254F showed a lower Km for tryptamine in the absence of reducing agent than 254C. No statistically significant difference in Vmax or Km was observed between 254C and 254F allozymes in the presence of reducing agent for DMSe, The Km values for DMSe methylation were about 10-fold (254C) or 6-fold (254F) more favorable than for tryptamine methylation with reducing agent present. These findings indicated that: 1) That phenylalanine at position 254 renders hINMT methylation of substrates DMS and tryptamine insensitive to a non reducing environment. 2) That human INMT harbors significant thioether-S-methyltransferase (TEMT) activity with a higher affinity for DMSe than tryptamine, 3) The reduction of a 44C/254C disulfide bond in hINMT that increases Vmax is proposed.
苯丙氨酸和半胱氨酸在人类吲哚(乙基)胺-N-甲基转移酶(hINMT)的 254 位氨基酸位置构成常见的错义变体(即单核苷酸多态性[SNP])。与两个 3'UTR SNP 连锁不平衡的苯丙氨酸变体已被报道与尿中三甲基硒代铵(TMSe)水平升高相关,TMSe 是挥发性二甲基硒化物的 Se-甲基化产物。比较了位置 254 处表达半胱氨酸(254C)或苯丙氨酸(254F)的 hINMT 同工酶,以评估其对 INMT 底物色胺、二甲基硫(DMS)和二甲基硒化物(DMSe)的酶活性(即 Km 和 Vmax)。在还原剂存在的情况下,SNP 254C 的 DMS 和色胺 Vmax 高于不存在还原剂的情况。相反,对于这些底物,254F 的 Vmax 对还原剂的存在与否不敏感。在不存在还原剂的情况下,SNP 254F 的色胺 Km 值低于 254C。在还原剂存在的情况下,254C 和 254F 同工酶之间没有观察到 DMSe 甲基化的 Vmax 或 Km 值存在统计学差异。DMSe 甲基化的 Km 值比还原剂存在时色胺甲基化的 Km 值约低 10 倍(254C)或 6 倍(254F)。这些发现表明:1)254 位的苯丙氨酸使 hINMT 对 DMS 和色胺的甲基化对非还原环境不敏感。2)人类 INMT 具有显著的硫醚-S-甲基转移酶(TEMT)活性,对 DMSe 的亲和力高于色胺。3)提出 hINMT 中 44C/254C 二硫键的还原增加了 Vmax。