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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

Manca, Laura and Ferranti, Pasquale and Barone, Francesca and Nitti, Gianpaolo and Malorni, Antonio and Pucci, Pietro and Naitana, Salvatore and Masala, Bruno Lucio (1988) 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. International Journal of Biochemistry, Vol. 25 (12), p. 1935-1938. ISSN 1357-2725. Article.

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DOI: 10.1016/0020-711X(88)90327-8

Abstract

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 βB globin.
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 ε11 and γ chains and of bovine γ chain which had an independent and more ancient evolutionary origin than the β chains.

Item Type:Article
ID Code:3075
Status:Published
Refereed:Yes
Uncontrolled Keywords:Sheep haemoglobin, amino acid substitution, nucleotide sequence
Subjects:Area 07 - Scienze agrarie e veterinarie > VET/02 Fisiologia veterinaria
Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
001 Università di Sassari > 01 Dipartimenti > Biologia animale
Publisher:Pergamon / Elsevier
ISSN:1357-2725
Deposited On:01 Oct 2009 10:22

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