The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene
| Autor: | Carl M. Cohen, Catherine Korsgren, Luanne L. Peters, Linda R. Adkison, Samuel E. Lux, Robert A. White |
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| Rok vydání: | 1992 |
| Předmět: |
Platelet Storage Pool Deficiency
Gene Expression Biology medicine.disease_cause Biological pathway Mice Gene expression Genetics medicine Animals Humans Northern blot Gene Southern blot Platelet storage pool deficiency Mutation Chromosome Mapping Membrane Proteins Blood Proteins DNA medicine.disease Molecular biology Phenotype Cytoskeletal Proteins Disease Models Animal RNA |
| Zdroj: | Nature genetics. 2(1) |
| ISSN: | 1061-4036 |
| Popis: | Pallid is one of 12 independent murine mutations with a prolonged bleeding time that are models for human platelet storage pool deficiencies in which several intracellular organelles are abnormal. We have mapped the murine gene for protein 4.2 (Epb4.2) to chromosome 2 where it co–localizes with pallid. Southern blot analyses suggest that pallid is a mutation in the Epb4.2 gene. Northern blot analyses demonstrate a smaller than normal Epb4.2 transcript in affected pallid tissues, such as kidney and skin. This is the first gene defect to be associated with a platelet storage pool deficiency, and may allow the identification of a novel structure or biological pathway that influences granulogenesis. |
| Databáze: | OpenAIRE |
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