Sato H, Aono S, Kashiwamata S, Koiwai O
Department of Biology, Shiga University of Medical Science, Japan.
Biochem Biophys Res Commun. 1991 Jun 28;177(3):1161-4. doi: 10.1016/0006-291x(91)90661-p.
The genetic defect of bilirubin UDP-glucuronosyltransferase (UDPGT) in the hyperbilirubinemic Gunn rat was proved to be a -1 frameshift mutation. The mutation was found not only to be located in the region where bilirubin UDPGT cDNA shared an identical sequence with 3-methylcholanthrene (3M C)-inducible UDPGT cDNA but also to occur in the same position on the two cDNAs from the mutant rat. At the 5' end of the identical region there was a consensus sequence for splicing, of which position coincided with the boundary between the 2nd and 3rd exon of the testosterone UDPGT gene. These results strongly suggest that mRNAs for bilirubin and 3M C-inducible UDPGTs are produced from a single primary-transcript after an alternative splicing and the defects of bilirubin and 3M C-inducible UDPGTs in the mutant rat are caused by a point mutation on a common exon.
高胆红素血症Gunn大鼠中胆红素UDP - 葡萄糖醛酸基转移酶（UDPGT）的基因缺陷被证明是一种 -1 移码突变。该突变不仅位于胆红素UDPGT cDNA与3 - 甲基胆蒽（3MC）诱导型UDPGT cDNA具有相同序列的区域，而且在来自突变大鼠的两个cDNA的相同位置出现。在相同区域的5'端有一个剪接共有序列，其位置与睾酮UDPGT基因第2和第3外显子之间的边界一致。这些结果强烈表明，胆红素和3MC诱导型UDPGT的mRNA是由一个单一的初级转录本经过可变剪接产生的，并且突变大鼠中胆红素和3MC诱导型UDPGT的缺陷是由一个共同外显子上的点突变引起的。
