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.
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.
Jogessar
V B
VB
Department of Haematology, University of Natal, Durban, South Africa.
Westermeyer
K
K
Webber
B B
BB
Wilson
J B
JB
Hu
H
H
Gonzalez-Redondo
J M
JM
Kutlar
A
A
Huisman
T H
TH
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D003062:Codon; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D004586:Electrophoresis; D005784:Gene Amplification; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010100:Oxygen / Q000097:blood*; D010446:Peptide Fragments; D012333:RNA, Messenger; D014357:Trypsin
D000596:Amino Acids; D003062:Codon; D015342:DNA Probes; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D012333:RNA, Messenger; C057761:hemoglobin Natal; D005914:Globins; D004247:DNA; D014357:Trypsin; D010100:Oxygen