Sp alpha super(V/41): A common spectrin polymorphism at the alpha IV- alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha -spectrin variants located in trans

Spectrin alpha -chain mutants associated with hereditary elliptocytosis are highly variable in their level of expression. It has been assumed that the degree of elliptocytosis can be increased when the spectrin alpha chain, encoded by the alpha gene in trans to the variant, is expressed at a low lev...

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Published inThe Journal of clinical investigation Vol. 87; no. 6; pp. 2169 - 2177
Main Authors Alloisio, N, Morle, L, Marechal, J, Roux, A-F, Ducluzeau, M-T, Guetarni, D, Pothier, B, Baklouti, F, Delaunay, G
Format Journal Article
LanguageEnglish
Published 01.01.1991
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Summary:Spectrin alpha -chain mutants associated with hereditary elliptocytosis are highly variable in their level of expression. It has been assumed that the degree of elliptocytosis can be increased when the spectrin alpha chain, encoded by the alpha gene in trans to the variant, is expressed at a low level. We now provide strong evidence for the existence of low-level expression of spectrin alpha chains. It appears that the alpha super(V/41) polymorphism is often required for alpha -spectrin elliptocytogenic variants to become manifest in the heterozygous state. Thus, alpha -spectrin-related elliptocytosis may be viewed as a bifactorial condition.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ISSN:0021-9738