Thermal stability and the biochemical genetics of erythrocyte catechol‐O‐methyltransferase and plasma dopamine‐β‐hydroxylase
Thermal stability and the biochemical genetics of erythrocyte catechol‐O‐methyltransferase and plasma dopamine‐β‐hydroxylase
复制标题
红细胞儿茶酚-O-甲基转移酶和血浆多巴胺-β-羟化酶的热稳定性和生化遗传学
DOI：
10.1111/j.1399-0004.1981.tb00740.x
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发表时间：
1981
影响因子：
3.5
通讯作者：
J. Dunnette
中科院分区：
文献类型：
--
作者：
R. Weinshilboum;J. Dunnette
人红细胞(RBC)、儿茶酚氧甲基转移酶(COMT)和人血浆多巴胺β羟基酶(DBH)活性水平呈单基因遗传。基础酶活性较低的等位基因COMTL纯合子受试者的红细胞COMT比基础酶基因活性较高的受试者更不耐热。这一观察结果表明，COMT基因可能代表了人类COMT的结构基因。人血浆胸径的热稳定性也存在很大的个体差异。热不稳定性血浆胸径性状具有显著的家族聚集性。尽管具有不耐热血浆胸径的受试者的平均基础血浆胸径活性仅为具有耐热酶的受试者的55%左右，但其热稳定性性状并不与基础血浆胸径活性极低的等位基因DBHLL共分离。对热稳定性的研究可能有助于加深我们对儿茶酚胺酶基因调控的生物化学基础的理解。
The levels of activity of human erythrocyte (RBC) catechol‐O‐methyl‐transferase (COMT) and human plasma dopamine‐β‐hydroxylase (DBH) are inherited in a monogenic fashion. The COMT in erythrocytes of subjects homozygous for the allele for low basal enzyme activity, COMTL, is more thermolabile than that in the erythrocytes of subjects with genetically high basal enzyme activity. This observation suggests that the locus COMT may represent the structural gene for COMT in man. Wide individual variations in the thermal stability of human plasma DBH also occur. There is a significant familial aggregation of the trait of thermolabile plasma DBH. Although subjects with thermolabile plasma DBH have average basal plasma DBH activity only about 55% of that of subjects with thermostable enzyme, the trait of thermolability does not cosegregate with DBHLL, the allele for very low basal plasma DBH activity. Studies of thermal stability may help to increase our understanding of the biochemical basis of the genetic regulation of catecholamine enzymes in man.