title: The structure and evolution of the human beta-globin gene family.
abstract: 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.
mesh_terms: D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D004247:DNA; D005796:Genes; D008040:Genetic Linkage; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D008322:Mammals / Q000235:genetics; D008957:Models, Genetic; D012315:RNA Caps; D012333:RNA, Messenger
chemical_list: D012315:RNA Caps; D012333:RNA, Messenger; D005914:Globins; D004247:DNA