Esumi H, Takahashi Y, Sato S, Nagase S, Sugimura T
Proc Natl Acad Sci U S A. 1983 Jan;80(1):95-9. doi: 10.1073/pnas.80.1.95.
Analbuminemic rats, which genetically lack serum albumin, have a mutation affecting albumin mRNA processing. Serum albumin genes were cloned from analbuminemic and normal parental Sprague-Dawley rats. Structural analyses of the two albumin genes showed that the gene from analbuminemic rats had a seven-base-pair deletion in an intron. The deletion extended from base 5 to base 11 from the 5' end of intron HI of the albumin gene. This deletion converted the sequence, G-T-A-G-G-T, which is normally located at the 5' end of intron HI, to G-T-A-G-C-G. RNA blot hybridization of analbuminemic and normal rat liver nuclear RNA using a DNA fragment containing the intron HI as a probe showed that this intron sequence persisted in albumin mRNA precursors of analbuminemic rats.
遗传性缺乏血清白蛋白的无白蛋白血症大鼠存在影响白蛋白mRNA加工的突变。从无白蛋白血症大鼠和正常亲代Sprague-Dawley大鼠中克隆血清白蛋白基因。对这两个白蛋白基因的结构分析表明，无白蛋白血症大鼠的基因在内含子中有一个7个碱基对的缺失。该缺失从白蛋白基因内含子HI 5'端的第5个碱基延伸至第11个碱基。这种缺失将通常位于内含子HI 5'端的序列G-T-A-G-G-T转变为G-T-A-G-C-G。使用包含内含子HI的DNA片段作为探针，对无白蛋白血症大鼠和正常大鼠肝核RNA进行RNA印迹杂交，结果表明该内含子序列存在于无白蛋白血症大鼠的白蛋白mRNA前体中。
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