Birkenmeier C S, McFarland-Starr E C, Barker J E
Jackson Laboratory, Bar Harbor, ME 04609.
Proc Natl Acad Sci U S A. 1988 Nov;85(21):8121-5. doi: 10.1073/pnas.85.21.8121.
Three genetic loci in the mouse affect the synthesis and assembly of the erythrocyte membrane skeleton. The spherocytosis and jaundiced loci affect the membrane skeletal protein known as spectrin. The normoblastosis locus affects the spectrin binding protein called ankyrin. We have obtained genetic data that define the linkage relationships among three spectrin genes and the spherocytosis and jaundiced loci. The erythroid alpha-spectrin gene is tightly linked to the spherocytosis locus on chromosome 1 and the jaundiced locus is on chromosome 12, tightly linked to the erythroid beta-spectrin gene. The brain alpha-spectrin (alpha-fodrin) gene is located on the centromeric end of chromosome 2 and is not closely linked to any previously mapped erythroid or neurological mutation. These results are consistent with the hypothesis that defects in the alpha- and beta-spectrin genes cause the spherocytosis and jaundiced hemolytic anemias in mice. All five loci studied are located within chromosomal segments that are conserved between mouse and man. Analysis of the data from the chromosome 12 study defines a new order for the genes on that chromosome and delineates the largest mouse/human conserved chromosomal segment yet known.
小鼠中的三个基因座影响红细胞膜骨架的合成与组装。球形红细胞增多症基因座和黄疸基因座影响一种名为血影蛋白的膜骨架蛋白。成红细胞增多症基因座影响一种名为锚蛋白的血影蛋白结合蛋白。我们已经获得了确定三个血影蛋白基因与球形红细胞增多症基因座和黄疸基因座之间连锁关系的遗传数据。红细胞α-血影蛋白基因与1号染色体上的球形红细胞增多症基因座紧密连锁，而黄疸基因座位于12号染色体上，与红细胞β-血影蛋白基因紧密连锁。脑α-血影蛋白（α- fodrin）基因位于2号染色体的着丝粒末端，与任何先前定位的红细胞或神经学突变均无紧密连锁。这些结果与α-和β-血影蛋白基因缺陷导致小鼠球形红细胞增多症和黄疸性溶血性贫血的假说一致。所研究的所有五个基因座都位于小鼠和人类之间保守的染色体片段内。对12号染色体研究数据的分析确定了该染色体上基因的新顺序，并描绘了迄今为止已知的最大的小鼠/人类保守染色体片段。
