Efstratiadis A, Posakony J W, Maniatis T, Lawn R M, O'Connell C, Spritz R A, DeRiel J K, Forget B G, Weissman S M, Slightom J L, Blechl A E, Smithies O, Baralle F E, Shoulders C C, Proudfoot N J
Cell. 1980 Oct;21(3):653-68. doi: 10.1016/0092-8674(80)90429-8.
We present the results of a detailed comparison of the primary structure of human beta-like globin genes and their flanking sequences. Among the sequences located 5' to these genes are two highly conserved regions which include the sequences ATA and CCAAT located 31 +/- 1 and 77 +/- 10 bp, respectively, 5' to the mRNA capping site. Similar sequences are found in the corresponding locations in most other eucaryotic structural genes. Calculation of the divergence times of individual beta-like globin gene pairs provides the first description of the evolutionary relationships within a gene family based entirely on direct nucleotide sequence comparisons. In addition, the evolutionary relationship of the embryonic epsilon-globin gene to the other human beta-like globin genes is defined for the first time. Finally, we describe a model for the involvement of short direct repeat sequences in the generation of deletions in the noncoding and coding regions of beta-like globin genes during evolution.
我们展示了人类β样珠蛋白基因及其侧翼序列一级结构详细比较的结果。在这些基因5'端的序列中，有两个高度保守的区域，其中分别包含位于mRNA加帽位点5'端31±1和77±10 bp处的ATA和CCAAT序列。在大多数其他真核生物结构基因的相应位置也发现了类似序列。通过计算各个β样珠蛋白基因对的分歧时间，首次完全基于直接核苷酸序列比较对一个基因家族内的进化关系进行了描述。此外，首次确定了胚胎ε-珠蛋白基因与其他人类β样珠蛋白基因的进化关系。最后，我们描述了一个模型，该模型涉及短直接重复序列在进化过程中β样珠蛋白基因非编码区和编码区缺失产生中的作用。
