Sheep haemoglobin I or beta B13(A10)Gly-->Ser: an example of a CpG mutation in vertebrates. Characterization using FAB-mass spectrometry and amino acid sequencing.
1. The amino acid substitution which characterizes the haemoglobin I variant from sheep has been ascertained using a combination of Fast Atom Bombardment mass spectrometry and protein sequencing. 2. A Ser for Gly substitution at position 13 (10 of the A helix) was found in a polypeptide with the overall sequence of the beta B globin. 3. On the basis of the nucleotide sequence of the beta B-globin gene, a C to T transition occurring on a CpG doublet is considered to be responsible for the amino acid substitution. 4. This represents the first observation of a variant sheep Hb due to a mutation which is rather common in the human genome. 5. Amongst ruminants, serine is normally present at position 13 of goat and sheep epsilon II and gamma chains and of bovine gamma chain which had an independent and more ancient evolutionary origin than the beta chains.
Manca
L
L
Istituto di Fisiologia Generale e Chimica Biologica, Università degli Studi di Sassari, Italy.
Ferranti
P
P
Barone
F
F
Nitti
G
G
Malorni
A
A
Pucci
P
P
Naitana
S
S
Masala
B
B
D000595:Amino Acid Sequence; D000818:Animals; D005914:Globins / Q000235:genetics*; D005998:Glycine / Q000235:genetics*; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012694:Serine / Q000235:genetics*; D012756:Sheep; D016339:Spectrometry, Mass, Fast Atom Bombardment
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D012694:Serine; D005914:Globins; C026236:hemoglobin I, non-mammalian; D005998:Glycine