Yamada Y, Avvedimento V E, Mudryj M, Ohkubo H, Vogeli G, Irani M, Pastan I, de Crombrugghe B
Cell. 1980 Dec;22(3):887-92. doi: 10.1016/0092-8674(80)90565-6.
We have determined the size and sequence of 8 exons in the gene that specifies chick type 1 alpha 2 collagen. These 8 exons represent three different segments of the gene, but all encode information for the helical portion of the protein. Seven exons have a length of 54 bp, and the 8th has a size of 99 bp. The sequences within these exons vary except for th glycine codons, which occur every third triplet. Each exon begins with a glycine codon and ends with a triplet that precedes a glycine codon. The size and the sequences of the introns do not show any homology except at their ends. Of 7 introns examined the first six bases at the 5' end of 5 of these are identical. The sequences at the 3' end of the introns also show homologies. Our results imply that the ancestral gene for collagen arose by multiple duplications of a single genetic unit containing a 54 bp condig segment. The sequences within these exons drifted by successive point mutations and in some cases by additions or deletions of 9 bp or multiples of 9 bp.
我们已经确定了编码鸡1型α2胶原蛋白的基因中8个外显子的大小和序列。这8个外显子代表基因的三个不同区段,但均编码该蛋白质螺旋部分的信息。7个外显子长度为54 bp,第8个外显子大小为99 bp。除了每隔三个三联体出现的甘氨酸密码子外,这些外显子内的序列各不相同。每个外显子都以一个甘氨酸密码子开始,并以紧接甘氨酸密码子之前的一个三联体结束。内含子的大小和序列除了在其末端外没有任何同源性。在所检查的7个内含子中,其中5个内含子5'端的前六个碱基是相同的。内含子3'端的序列也显示出同源性。我们的结果表明,胶原蛋白的祖先基因是由一个包含54 bp编码区段的单一遗传单位多次重复产生的。这些外显子内的序列通过连续的点突变,在某些情况下通过9 bp或9 bp倍数的添加或缺失而发生漂移。