Mice homozygous for the nb mutation (Chromosome 8) have a severe hemolytic anemia and develop a psychomotor disorder at 6 mo of age. The nb/nb mice are deficient in erythroid ankyrin (Ank-1) but, until the present study, the role of Ank-1 and of Ank-2 (brain ankyrin) in disease genesis was unknown. In normal erythroid tissues, we show that two major transcripts are expressed from Ank-1, and one of these is also present at high levels in the cerebellum. By in situ hybridization and immunocytochemistry, Ank-1 localizes to the cerebellar Purkinje cells and, to a lesser extent, the granule cells. In nb/nb mice, Ank-1 transcripts are markedly reduced in both erythroid and neural tissue, and nb/nb Purkinje cells and granule cells are nearly devoid of Ank-1. The neurological syndrome appears concurrently with a dramatic loss of Purkinje cells. Ank-2 maps to Chromosome 3 and its expression is unaffected by the nb mutation. We conclude that Ank-1 is specifically required for Purkinje cell stability and, in its absence, Purkinje cell loss and neurological symptoms appear.
Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice.
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L L Peters, C S Birkenmeier, R T Bronson, R A White, S E Lux, E Otto, V Bennett, A Higgins, J E Barker; Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice.. J Cell Biol 15 September 1991; 114 (6): 1233–1241. doi: https://doi.org/10.1083/jcb.114.6.1233
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