Molecular genetics of hereditary spherocytosis

• Autorzy: Delaunay J. , Alloisio N. , Morle L.
• Języki publikacji: EN

Abstrakty

EN

The mechanical properties of the red cell are accounted for by its membrane and its membrane skeleton, the latter being a protein network that laminates the inner surface of the lipid bilayer. Hereditary spherocytosis (HS) is the most common of congenital hemolytic anemias. The spherocytes have a reduced lifespan due to their spheroidal shape that alters their resistance and elastic deformability. It is now established that the responsible alterations affect most often the ANK1 gene that encodes erythroid ankyrin. A noticeable HS subset is associated with a reduction of the anion exchanger 1 (AE1, or band 3), due to mutation in the corresponding gene, the EPB3 gene. Much more rarely, HS goes along with a sharp reduction, if not the absence, of protein 4.2. This stigmata results either from mutations in the DNA sequences that encode the binding site of the AE1 cytoplasmic domain for protein 4.2, or from mutations of protein 4.2 gene itself, the ELP42 gene. Mutations responsible for HS lie rarely or exceptionally in the spectrin β- or the α-genes (SPTB and SPTA1 genes, respectively). Elucidation of new HS mutations is presently at its height. It casts light on the function of specific domains within the various proteins involved, and on the integration of protein structure and function at the cellular scale.

Słowa kluczowe

EN

molecular genetics; hemolytic anaemia; membrane; erythrocyte; mutation; gene mutation; mechanical property; hereditary spherocytosis

• Wydawca: -
• Czasopismo: Cellular and Molecular Biology Letters
• Rocznik: 1996
• Tom: 01
• Numer: 1
• Opis fizyczny: p.49-65,fig.

Twórcy

autor

Delaunay J.

• Institut Pasteur de Lyon, 69365 Lyon Cedex 07, France

autor

Alloisio N.

autor

Morle L.

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