Sato H, Aono S, Koiwai O
Department of Biology, Shiga University of Medical Science.
Nihon Rinsho. 1993 Feb;51(2):501-6.
The hyperbilirubinemic Gunn rat lacks hepatic UDP-glucuronosyltransferase (UDPGT) activity toward bilirubin and has been used as an animal model for human Crigler-Najjar syndrome type I. Rat liver bilirubin UDPGT cDNA was isolated. The cDNA shared an identical 913-bp sequence (corresponding to the C-terminal 247 amino acid residues) with that for phenol UDPGT whose activity was also deficient in the Gunn rat. The bilirubin UDPGT gene was mapped at the position of 37 on mouse chromosome 1 by analyzing restriction endonuclease fragment length variations using the rat bilirubin UDPGT cDNA as a probe. The genetic defect of bilirubin UDPGT in the mutant rat was proved to be a -1 frameshift mutation. The mutation was found not only to be located in the region where the cDNA for bilirubin UDPGT shared the identical sequence with that for phenol UDPGT but also to occur in the same position in the two cDNAs from the mutant.
高胆红素血症的冈恩大鼠缺乏肝脏对胆红素的尿苷二磷酸葡萄糖醛酸基转移酶（UDPGT）活性，已被用作人类Ⅰ型克里格勒-纳贾尔综合征的动物模型。大鼠肝脏胆红素UDPGT cDNA被分离出来。该cDNA与苯酚UDPGT的cDNA共享一个相同的913碱基对序列（对应于C末端的247个氨基酸残基），而苯酚UDPGT的活性在冈恩大鼠中也缺乏。通过使用大鼠胆红素UDPGT cDNA作为探针分析限制性内切酶片段长度变异，将胆红素UDPGT基因定位在小鼠1号染色体的37位置。突变大鼠中胆红素UDPGT的基因缺陷被证明是一个-1移码突变。该突变不仅位于胆红素UDPGT cDNA与苯酚UDPGT cDNA共享相同序列的区域，而且在突变体的两个cDNA中的相同位置出现。
