Chromosomal structure and localization of the human alpha-fetoprotein gene.
Chromosomal structure and localization of the human alpha-fetoprotein gene.
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人类甲胎蛋白基因的染色体结构和定位。
DOI：
10.1111/j.1749-6632.1983.tb32842.x
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发表时间：
1983
影响因子：
5.2
通讯作者：
Dugaiczyk,A
中科院分区：
文献类型：
--
作者：
Minghetti,PP;Harper,ME;Alpert,E;Dugaiczyk,A
人甲胎蛋白，像其他哺乳动物甚至鸟类甲胎蛋白一样，是在胚胎和胎儿生命期间在循环系统中发现的主要蛋白质。这种有趣的含唾液酸的蛋白质4（70，000 M. W.）可以细分为三个不同的领域^.^这些结构域是通过半胱氨酸二硫键的精确定位产生的，不仅在甲胎蛋白分子中，而且在结构上相关的成人蛋白质血清白蛋白中。尽管甲胎蛋白的生理功能仍然是一个谜，但这种基因产物在正常人胎儿期快速生长时以高浓度（67-2，000 pg/ml）表达，然后在正常人成年期降低到仅痕量（< 3 ng/ml）。这代表甲胎蛋白的血清浓度降低了大约一百万倍。甲胎蛋白的一个奇怪的特征是，它在具有某些病理条件的成年人中以升高的浓度表达，包括肝和生殖细胞的肿瘤、8-“共济失调毛细血管扩张症”和遗传性酪氨酸血症。** 甲胎蛋白在这些病理条件下以升高的浓度表达的原因目前尚不清楚。甲胎蛋白基因的一个有趣的特征是其与血清白蛋白基因的结构相关性。例如，已知这些基因在小鼠的5号染色体上连锁。'~.而且，根据核苷酸和氨基酸序列数据，这些基因也被认为是人类和啮齿动物中同一基因家族的成员。
Human a-fetoprotein, like other mammalian and even avian a-fetoproteins, is a major protein found in the circulatory system during embryonic and fetal life.'-3 This interesting sialic-acid-containing protein4 (70,000 M. W.) can be subdivided into three distinct domain^.^'These domains are produced by precise positioning of cysteinecysteine disulfide bridges, not only in the a-fetoprotein molecule but also in the structurally related adult protein, serum albumin.'Although the physiological function of a-fetoprotein remains a mystery, this gene product is expressed at high concentrations (67-2, OOO pg/ml) during normal human fetal life when rapid growth is taking place and then decreases to only trace amounts (< 3 ng/ml) in normal human adult life.'This represents approximately a millionfold decrease in serum concentration of a-fetoprotein. A curious feature of a-fetoprotein is that it is expressed at elevated concentrations in adults with certain pathologic conditions, including neoplasia of liver and of germ cells, 8-'o ataxia telangiectasia," and in hereditary tyrosinemia.'** The reason (s) why a-fetoprotein is expressed at elevated concentrations under these pathologic conditions is presently not understood. An interesting feature of the a-fetoprotein gene is its structural relatedness to the serum albumin gene. It is known, for instance, that these genes are linked on chromosome 5 in the mou~ e.'~.'~ And, on the basis of nucleotide and amino acid sequence data,', 16, I'these genes are also considered to be members of the same gene family in man and rodents.