| First Author | Peters LL | Year | 1991 |
| Journal | J Cell Biol | Volume | 114 |
| Issue | 6 | Pages | 1233-41 |
| PubMed ID | 1716634 | Mgi Jnum | J:11441 |
| Mgi Id | MGI:59876 | Doi | 10.1083/jcb.114.6.1233 |
| Citation | Peters LL, et al. (1991) Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol 114(6):1233-41 |
| abstractText | 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. |
