Characterization of the zebrafish atxn1/axh gene family
| Autor: | H. Brent Clark, Shaojuan Lai, Kerri M. Carlson, Harry T. Orr, Laura Melcher, Huda Y. Zoghbi |
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| Rok vydání: | 2008 |
| Předmět: |
Embryo
Nonmammalian Ataxin 1 Sequence alignment Nerve Tissue Proteins Transfection Article Animals Genetically Modified Cellular and Molecular Neuroscience biology.animal Chlorocebus aethiops Genetics Serine Gene family Animals Humans Phosphorylation Zebrafish Ataxin-1 Regulation of gene expression Neurons biology Vertebrate Brain Gene Expression Regulation Developmental Nuclear Proteins Polyglutamine tract Zebrafish Proteins biology.organism_classification Ataxins COS Cells biology.protein Peptides Sequence Alignment Nuclear localization sequence |
| Zdroj: | Journal of neurogenetics. 23(3) |
| ISSN: | 1563-5260 |
| Popis: | In mammals, ataxin-1 (ATXN1) is a member of a family of proteins in which each member contains an AXH domain. Expansion of the polyglutamine tract in ATXN1 causes the neurodegenerative disease, spinocerebellar ataxia type 1 (SCA1) with prominent cerebellar pathology. Toward a further characterization of the genetic diversification of the ATXN1/AXH gene family, we identified and characterized members of this gene family in zebrafish, a lower vertebrate with a cerebellum. The zebrafish genome encodes two ATXN1 homologs, atxn1a and atxn1b, and one ATXN1L homolog, atxn1l. Key biochemical features of the human ATXN1 protein not seen in the invertebrate homologs (a nuclear localization sequence and a site of phosphorylation at serine 776) are conserved in the zebrafish homologs, and all three zebrafish Atxn1/Axh proteins behave similarly to their human counterparts in tissue-culture cells. Importantly, each of the three homologs is expressed in the zebrafish cerebellum, which in humans, is a prominent site of SCA1 pathogenesis. In addition, atxn1a and atxn1b are expressed in the developing zebrafish cerebellum. These data show that in zebrafish, a lower vertebrate, the complexity of the atxn1/axh gene family is more similar to higher vertebrates than invertebrates with a simple central nervous system and suggests a relationship between the diversification of the ATXN1/AXH gene family and the development of a complex central nervous system, including a cerebellum. |
| Databáze: | OpenAIRE |
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