Servadio A, Casari G
Istituto Scientifico H. San Raffaele, Milan, Italy.
Biochem Mol Biol Int. 1993 Jul;30(4):721-5.
Rat calpastatin cDNAs obtained by RT-PCR method were isolated and directly sequenced; this allowed the identification of two new variants both characterized by a 23 amino acids deletion at the end of the unique N-terminal domain L, increasing the number of functional isoforms. The deletion shows high homology to the amino acid sequence coded by exon 8 of human calpastatin gene and properly conserved splicing consensus sequences, suggesting exon skipping in domain L. Furthermore, three point mutations scattered along the coding region were found.
通过逆转录聚合酶链反应(RT-PCR)方法获得的大鼠钙蛋白酶抑制蛋白cDNA被分离并直接测序;这使得能够鉴定出两个新的变体,其特征均为在独特的N端结构域L末端缺失23个氨基酸,从而增加了功能性同工型的数量。该缺失与人类钙蛋白酶抑制蛋白基因外显子8编码的氨基酸序列具有高度同源性,并且有适当保守的剪接共有序列,提示在结构域L中发生了外显子跳跃。此外,还发现了沿编码区散布的三个点突变。