Bodine D M, Birkenmeier C S, Barker J E
Cell. 1984 Jul;37(3):721-9. doi: 10.1016/0092-8674(84)90408-2.
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.
我们研究了在三个不同位点（nb、ja、sph）发生的六个突变的纯合子和杂合子小鼠中的血影蛋白合成及mRNA活性。当这些突变纯合时，会导致严重的溶血性贫血，其特征是特定的血影蛋白缺乏。我们的结果表明，nb突变的主要影响是另一种红细胞膜骨架蛋白锚蛋白的缺乏。ja/ja小鼠红细胞中血影蛋白的严重缺乏是β血影蛋白缺陷的结果。对sph几个等位基因的纯合子和杂合子小鼠血影蛋白合成的分析表明，sph位点是α血影蛋白的结构基因位点。我们已将sph位点定位到小鼠1号染色体上。
