Hb natal or alpha 2(minus Tyr-Arg) beta 2: a high oxygen affinity alpha chain variant with a deleted carboxy-terminus resulting from a TAC----TAA (Tyr----terminating codon) mutation in codon alpha 140

Biochim Biophys Acta. 1988 Nov 10;951(1):36-41. doi: 10.1016/0167-4781(88)90022-x.

Abstract

The discovery is reported of a fast-moving alpha chain variant (Hb Natal) which is characterized by a shortened alpha polypeptide chain because of the deletion of the Tyr-Arg carboxy-terminal residues. Through amplification of appropriate segments of DNA and hybridization with synthetic oligonucleotide probes, it was possible to detect a C----A mutation in codon 140 of the alpha 2 globin gene, which causes a change in the codon for tyrosine to a terminating codon. Hb Natal or alpha 2 (minus Tyr-Arg) beta 2 has a high affinity for oxygen without a Bohr effect and heme-heme interaction. These results provide direct evidence for the importance of the tyrosine residue at alpha 140 in the oxygenation-deoxygenation process.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Amino Acids / analysis
  • Base Sequence
  • Chromatography, High Pressure Liquid
  • Codon*
  • DNA / genetics
  • DNA Probes
  • Electrophoresis
  • Gene Amplification
  • Globins / genetics
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Nucleic Acid Hybridization
  • Oxygen / blood*
  • Peptide Fragments
  • RNA, Messenger*
  • Trypsin

Substances

  • Amino Acids
  • Codon
  • DNA Probes
  • Hemoglobins, Abnormal
  • Peptide Fragments
  • RNA, Messenger
  • hemoglobin Natal
  • Globins
  • DNA
  • Trypsin
  • Oxygen