Publications [#112956] of G Vann V. Bennett

Papers Published

1. LL Peters, CS Birkenmeier, RT Bronson, RA White, SE Lux, E Otto, V Bennett, A Higgins, JE Barker, Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice., The Journal of cell biology, UNITED STATES, vol. 114 no. 6 (September, 1991), pp. 1233-41, ISSN 0021-9525
   (last updated on 2003/02/18)

   Abstract:
   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.

   Keywords:
   Anemia, Hemolytic • Animals • Ankyrins • Blood Proteins • Brain • Cerebellum • Chromosome Mapping • Erythrocyte Membrane • Linkage (Genetics) • Membrane Proteins • Mice • Mice, Mutant Strains • Poly A • Purkinje Cells • RNA • RNA, Messenger • Reference Values • Reticulocytes • Transcription, Genetic • analysis • blood • deficiency* • genetics • pathology • pathology* • physiology • physiopathology*