dorsal/arxiv
View SchemaCerebellar Purkinje Cell Loss in Heterozygous Rora+/-Mice: A Longitudinal Study
| Authors | Mohamed Doulazmi, Francesca Capone, Florence Frederic, JoËlle Bakouche, Yolande Lemaigre-Dubreuil, Jean Mariani |
|---|---|
| Categories | |
| ArXiv ID | q-bio/0606040 |
| URL | https://arxiv.org/abs/q-bio/0606040 |
Abstract
The staggerer (sg/sg) mutation is a spontaneous deletion in the Rora gene that prevents the translation of the ligand-binding domain (LBD), leading to the loss of ROR\alpha activity. The homozygous Rorasg/sg mutant mouse, whose most obvious phenotype is ataxia associated with cerebellar degeneration, also displays a variety of other phenotypes. The heterozygous Rora+/sg is able to develop a cerebellum which is qualitatively normal but with advancing age suffers a significant loss of cerebellar neuronal cells. A truncated protein synthesized by the mutated allele may play a role, both in Rorasg/sg and Rora+/sg. To determine the effects during life span of true haplo-insufficiency of the ROR\alpha protein, derived from the invalidation of the gene, we compared the evolution of Purkinje cell numbers in heterozygous Rora knock-out males (Rora+/-) and in their wildtype counterparts from 1 to 24 months of age. We also compared the evolution of Purkinje cell numbers in Rora+/- and Rora+/sg males from 1 to 9 months. The main finding is that in Rora+/- mice, when only a half dose of protein is synthesized, the deficit was already established at 1 month and did not change during life span....
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"abstract": "The staggerer (sg/sg) mutation is a spontaneous deletion in the Rora gene\nthat prevents the translation of the ligand-binding domain (LBD), leading to\nthe loss of ROR\\alpha activity. The homozygous Rorasg/sg mutant mouse, whose\nmost obvious phenotype is ataxia associated with cerebellar degeneration, also\ndisplays a variety of other phenotypes. The heterozygous Rora+/sg is able to\ndevelop a cerebellum which is qualitatively normal but with advancing age\nsuffers a significant loss of cerebellar neuronal cells. A truncated protein\nsynthesized by the mutated allele may play a role, both in Rorasg/sg and\nRora+/sg. To determine the effects during life span of true haplo-insufficiency\nof the ROR\\alpha protein, derived from the invalidation of the gene, we\ncompared the evolution of Purkinje cell numbers in heterozygous Rora knock-out\nmales (Rora+/-) and in their wildtype counterparts from 1 to 24 months of age.\nWe also compared the evolution of Purkinje cell numbers in Rora+/- and Rora+/sg\nmales from 1 to 9 months. The main finding is that in Rora+/- mice, when only a\nhalf dose of protein is synthesized, the deficit was already established at 1\nmonth and did not change during life span....",
"arxiv_id": "q-bio/0606040",
"authors": [
"Mohamed Doulazmi",
"Francesca Capone",
"Florence Frederic",
"Jo\u00cblle Bakouche",
"Yolande Lemaigre-Dubreuil",
"Jean Mariani"
],
"categories": [
"q-bio.NC"
],
"title": "Cerebellar Purkinje Cell Loss in Heterozygous Rora+/-Mice: A Longitudinal Study",
"url": "https://arxiv.org/abs/q-bio/0606040"
},
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