Intergenic DNA sequences flanking the pseudo alpha globin genes of human and chimpanzee

Abstract

We have determined the sequence of 2400 base pairs upstream from the human pseudo alpha globin (Φα) gene, and for comparison, 1100 base pairs of DNA within and upstream from the chimpanzee Φα gene. The region upstream from the promoter of the Φα gene shows no significant homology to the intergenic regions of the adult α2 and αl globin genes.The chimpanzee gene has a coding defect in common with the human α gene, showing that the product of this gene, if any, was inactivated before the divergence of human and chimpanzee. However the chimpanzee gene contains a normal ATG initiation codon in contrast to the human gene which has GTG as the initiation codon.The α genes of both human and chimpanzee are flanked by the same Alu family member. The structure and position of this repeat have not been altered since the divergence of human and chimpanzee, and it is at least as well conserved as its immediate flanking sequence. Comparing human and chimpanzee, the 300 bp Alu repeat has accumulated only two base substitutions and one length mutation; the adjacent 300 bp flanking region has accumulated five base substitutions and twelve length mutations. © 1983 IRL Press Limited.