Craik C S, Sprang S, Fletterick R, Rutter W J
Nature. 1982 Sep 9;299(5879):180-2. doi: 10.1038/299180a0.
There have been several suggested explanations for the presence of noncoding intervening sequences in many eukaryotic structural genes. They may be examples of 'selfish DNA, conferring little phenotypic advantage, or they may have some importance in gene expression and/or evolution. It has been suggested that each exon (coding sequence) may represent a structural or functional unit of the encoded protein, for which there is good evidence in the case of immunoglobulin and haemoglobin genes. Exon modification, duplication and recombination may thus be general mechanisms for the rapid evolution of eukaryotic structural genes. In many cases, however, it is not apparent that an exon corresponds to some specific feature of the encoded protein. We describe here evidence that intron-exon junctions usually map to amino acid residues located at the protein surface, suggesting a restriction on the permitted positions of introns within a gene.
对于许多真核生物结构基因中存在非编码间隔序列,已经有几种解释。它们可能是“自私DNA”的例子,几乎没有表型优势,或者它们可能在基因表达和/或进化中具有某种重要性。有人提出每个外显子(编码序列)可能代表所编码蛋白质的一个结构或功能单元,在免疫球蛋白和血红蛋白基因的情况下有充分证据支持这一点。因此,外显子修饰、重复和重组可能是真核生物结构基因快速进化的普遍机制。然而,在许多情况下,并不明显一个外显子对应于所编码蛋白质的某些特定特征。我们在此描述的证据表明,内含子-外显子连接通常定位在位于蛋白质表面的氨基酸残基处,这表明基因内内含子的允许位置受到限制。