Faculty Research 1990 - 1999


Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice.

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Animal, Blood-Proteins: an, ge, df, Brain: ph, pp, pa, Cerebellum: pa, Chromosome-Mapping, Erythrocyte-Membrane: ph, Linkage-(Genetics), Membrane-Proteins: an, ge, df, Mice, Mice-Mutant-Strains, Poly-A: an, ge, Purkinje-Cells: pa, Reference-Values, Reticulocytes: ph, RNA: an, ge, Transcription-Genetic

JAX Source

J Cell Biol 1991 Sep; 114(6):1233-41.


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.

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