Sheep haemoglobin i or β b13(a10)gly → ser: an example of a cpg mutation in vertebrates. Characterization using fab-mass spectrometry and amino acid sequencing

Autor: Manca, Laura, Ferranti, Pasquale, Barone, Francesca, Nitti, Gianpaolo, Malorni Piero Pucci, Antonio, Naitana, Salvatore, Masala, Bruno
Zdroj: International Journal of Biochemistry; January 1993, Vol. 25 Issue: 12 p1935-1938, 4p
Abstrakt: 1.1. 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.2.2. A Ser for Gly substitution at position 13 (10 of the A helix) was found in a polypeptide with the overall sequence of the βBglobin.3.3. On the basis of the nucleotide sequence of the βB-globin gene, a C to T transition occurring on a CpG doublet is considered to be responsible for the amino acid substitution.4.4. This represents the first observation of a variant sheep Hb due to a mutation which is rather common in the human genome.5.5. Amongst ruminants, serine is normally present at position 13 of goat and sheep ε11and γ chains and of bovine γ chain which had an independent and more ancient evolutionary origin than the β chains.
Databáze: Supplemental Index