The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene

Cell. 1982 Dec;31(3 Pt 2):553-63. doi: 10.1016/0092-8674(82)90311-7.


DNA sequencing studies indicate that only one of two closely linked human embryonic alpha-like globin genes, zeta (zeta), encodes a functional polypeptide. The other is a pseudogene (psi zeta) that differs by only 3 bp in the protein coding sequence, one of which converts the codon for amino acid 6 into a chain termination codon. Both zeta-globin genes differ from all other alpha-like genes thus far reported in that they contain large introns consisting, in part, of simple repeat sequences. Intron 1 of each gene contains a variation of the repeat sequence ACAGTGGGGAGGGG, while intron 2 contains the repeat sequence CGGGG. Comparison of the human zeta- and alpha-globin gene sequences reveals that the embryonic and adult alpha-like genes began to diverge from each other relatively early in vertebrate evolution (400 million years ago). In contrast, the beta-like embryonic globin gene, epsilon (epsilon), is the product of a much more recent evolutionary event (200 million years ago). Thus, even though the temporal and quantitative expression of zeta- and epsilon-globin genes must be coordinately controlled during development, their evolutionary histories are clearly distinct.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Biological Evolution
  • Cloning, Molecular
  • Codon
  • DNA Restriction Enzymes
  • Embryo, Mammalian
  • Female
  • Genes*
  • Globins / genetics*
  • Humans
  • Pregnancy
  • RNA, Messenger / genetics
  • Species Specificity


  • Codon
  • RNA, Messenger
  • Globins
  • DNA Restriction Enzymes

Associated data

  • GENBANK/J00181
  • GENBANK/J00182
  • GENBANK/J00184