The structure and evolution of the human β-globin gene family

A Efstratiadis, JW Posakony, T Maniatis, RM Lawn… - Cell, 1980 - cell.com
A Efstratiadis, JW Posakony, T Maniatis, RM Lawn, C O'Connell, RA Spritz, JK Deriel…
Cell, 1980cell.com
We present the results of a detailed comparison of the primary structure of human β-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 β-like globin gene pairs provides the first …
Abstract
We present the results of a detailed comparison of the primary structure of human β-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 β-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 β-globin gene to the other human β-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 β-like globin genes during evolution.
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