SPECTRIN DEFICIENT INHERITED HEMOLYTIC-ANEMIAS IN THE MOUSE - CHARACTERIZATION BY SPECTRIN SYNTHESIS AND MESSENGER-RNA ACTIVITY IN RETICULOCYTES
SPECTRIN DEFICIENT INHERITED HEMOLYTIC-ANEMIAS IN THE MOUSE - CHARACTERIZATION BY SPECTRIN SYNTHESIS AND MESSENGER-RNA ACTIVITY IN RETICULOCYTES
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DOI：
10.1016/0092-8674(84)90408-2
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发表时间：
1984-01-01
期刊：
影响因子：
64.5
通讯作者：
BARKER, JE
中科院分区：
文献类型：
--
作者：
BODINE, DM;BIRKENMEIER, CS;BARKER, JE
我们研究了发生在三个不同基因座(nb，ja，sph)的6个突变纯合子和杂合子小鼠的血影蛋白合成和mRNA活性。当纯合时，这些突变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--锚蛋白的缺失。JA/JA小鼠红细胞中的血影蛋白严重缺乏是P血影蛋白缺陷的结果。对几种sph纯合子和杂合子小鼠的血影蛋白合成分析表明，sph基因座是(Y血影蛋白)的结构基因座。我们已经将sph基因定位在小鼠的1号染色体上。
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 p 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 (Y spectrin. We have mapped the sph locus to mouse Chromosome 1.