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

Cell. 1980 Oct;21(3):653-68. doi: 10.1016/0092-8674(80)90429-8.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Biological Evolution*
  • DNA
  • Genes*
  • Genetic Linkage
  • Globins / biosynthesis
  • Globins / genetics*
  • Humans
  • Mammals / genetics
  • Models, Genetic
  • RNA Caps
  • RNA, Messenger

Substances

  • RNA Caps
  • RNA, Messenger
  • Globins
  • DNA

Associated data

  • GENBANK/J00093
  • GENBANK/J00094
  • GENBANK/J00096
  • GENBANK/J00158
  • GENBANK/J00159
  • GENBANK/J00160
  • GENBANK/J00161
  • GENBANK/J00162
  • GENBANK/J00163
  • GENBANK/J00164
  • GENBANK/J00165
  • GENBANK/J00166
  • GENBANK/J00167
  • GENBANK/J00168
  • GENBANK/J00169
  • GENBANK/J00170
  • GENBANK/J00171
  • GENBANK/J00172
  • GENBANK/J00173
  • GENBANK/J00174
  • GENBANK/J00175
  • GENBANK/J00177
  • GENBANK/J00178
  • GENBANK/J00179
  • GENBANK/K01239
  • GENBANK/K01890
  • GENBANK/K02544
  • GENBANK/M18047
  • GENBANK/M19067
  • GENBANK/X00423