A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia

We have identified a novel base substitution at codon 247 in the beta-chain of the haptoglobin 2 ( Hp(2)) allele in a Ghanaian with the Hp0 (ahaptoglobinemic) phenotype. The heterozygous T-->C substitution caused reduced expression of the protein when the mutant was transfected into COS7 cells. T...

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Bibliographic Details
Published in:Human genetics 2004-04, Vol.114 (5), p.499-502
Main Authors: Teye, Kwesi, Quaye, Isaac K E, Koda, Yoshiro, Soejima, Mikiko, Pang, Hao, Tsuneoka, Makoto, Amoah, Albert G B, Adjei, Andrew, Kimura, Hiroshi
Format: Article
Language:English
Subjects:
Alleles
Amino Acid Sequence
Animals
Base Sequence
Blotting, Western
Cercopithecus aethiops
COS Cells
Enzyme-Linked Immunosorbent Assay
Gene Expression
Ghana
Haptoglobins - deficiency
Haptoglobins - genetics
Humans
Immunodiffusion
Molecular Sequence Data
Mutation, Missense - genetics
Phenotype
Sequence Alignment
Sequence Analysis, DNA
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Summary:We have identified a novel base substitution at codon 247 in the beta-chain of the haptoglobin 2 ( Hp(2)) allele in a Ghanaian with the Hp0 (ahaptoglobinemic) phenotype. The heterozygous T-->C substitution caused reduced expression of the protein when the mutant was transfected into COS7 cells. The base substitution resulted in a missense change of the non-polar amino acid isoleucine to the polar amino acid threonine at a position in the beta-chain that is highly conserved among several species. We had previously identified a mutation in the Hp gene promoter region for the same individual, which gives her genotype as -61C Hp(2)/-61C Hp(2)(I247T). Since the -61C mutation also leads to low Hp expression, the genotype represents the first and most definitive ahaptoglobinemic case reported in Africa.
ISSN:0340-6717
DOI:10.1007/s00439-004-1098-6