Faculty Research 1980 - 1989

Title

Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes.

Document Type

Article

Publication Date

1984

Keywords

Animal, Chromosome-Mapping, Erythrocyte-Membrane: ul, Genes-Structural, Membrane-Proteins: ge, Mice, Mice-Mutant-Strains, Mutation, Reticulocytes: ph, RNA-Messenger: ge, Spectrin: ge, df, SUPPORT-U-S-GOVT-NON-P-H-S, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Cell. 1984 Jul; 37(3):721-9.

Grant

AM27726, HL29305, T32-CA09217-04

Abstract

We have investigated spectrin synthesis and mRNA activity in mice homozygous and heterozygous for six mutations occurring at three distinct loci (nb, ja, sph). When homozygous, these mutations cause severe hemolytic anemias that are characterized by specific spectrin deficiencies. Our results indicate that the primary effect of the nb mutation is a deficiency of another erythrocyte membrane skeletal protein, ankyrin. The severe deficiency of spectrin in the red blood cells of ja/ja mice is the result of a beta spectrin defect. Analysis of spectrin synthesis in mice homozygous and heterozygous for several alleles of sph indicates that the sph locus is the structural gene locus for alpha spectrin. We have mapped the sph locus to mouse Chromosome 1.

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