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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia
British Journal of Haematology, Volume 89, No. 4, Year 1995
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Description
A recessively transmitted haemolytic anaemia associated with the lack of protein 4 2 was found in a Tunisian kindred. Trace amounts of this protein (72 kD component) became visible using high‐sensitivity Western blots. Band 3 and ankyrin genes were excluded as candidate genes by linkage studies, and nucleotide sequencing of band 3 cytoplasmic domain cDNA revealed no alteration. In contrast, protein 4.2 gene contained in the homozygous state a mutation at position 310: CGA → CAA (Arg → Gln). This mutation defining allele 4.2 Tozeur was co‐inherited with the disease. The mRNA encoding the variant protein was normal in size and approximately normal in amount. Recombinant protein 4.2 Tozeur bound normally to red cell IOVs but disclosed an increased susceptibility to proteolysis in vitro. We infer that the nearly total absence of protein 4.2 in the patients results from imbalance between destruction and synthesis of mutated protein 4.2 prior to its binding to the membrane. Copyright © 1995, Wiley Blackwell. All rights reserved
Authors & Co-Authors
Hayette, Sandrine
France, Paris
Cnrs Centre National de la Recherche Scientifique
Morlé, Laurette
France, Paris
Cnrs Centre National de la Recherche Scientifique
Bozon, Muriel
France, Paris
Cnrs Centre National de la Recherche Scientifique
Ghanem, Abderraouf
Tunisia, Tunis
Institut National de Sante de L'enfance
Risinger, Mary A.
United States, Boston
Caritas St. Elizabeth's Medical Center
Korsgren, Catherine
United States, Boston
Caritas St. Elizabeth's Medical Center
Tanner, Michael J.A.
United Kingdom, Bristol
School of Medical Sciences
Fattoum, Slaheddine
Tunisia, Tunis
Institut National de Sante de L'enfance
Cohen, Carl M.
United States, Boston
Caritas St. Elizabeth's Medical Center
Delaunay, Jean G.
France, Paris
Cnrs Centre National de la Recherche Scientifique
Statistics
Citations: 28
Authors: 10
Affiliations: 4
Identifiers
Doi:
10.1111/j.1365-2141.1995.tb08413.x
ISSN:
00071048
e-ISSN:
13652141
Research Areas
Cancer
Genetics And Genomics