caa a22 4500 397575351 CHVBK 20180308164854.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.33 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.33 Cloning and Developmental Expression Analysis of the Murine Homolog of the Spinocerebellar Ataxia Type 1 Gene (Sea1) [Elektronische Daten] [Sandro Banfi, Antonio Servadio, Ming-yi Chung, Fiorentino Capozzoli, Lisa A. Duvick, Robert Elde, Huda Y. Zoghbi, Harry T. Orr] Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat which encodes glutamine in the novel protein ataxin-1. In order to characterize the developmental expression pattern of SCA1 and to identify putative functional domains in ataxin-1, the murine homolog (Sca1) was isolated. Cloning and characterization of the murine Sca1 gene revealed that the gene organization is similar to that of the human gene. The murine and human ataxin-1 are highly homologous but the CAG repeat is virtually absent in the mouse sequence suggesting that the polyglutamine stretch is not essential for the normal function of ataxin-1 in mice. Cellular and developmental expression of the murine homolog was examined using RNA in situ hybridization. During cerebellar development, there is a transient burst of Sca1 expression at postnatal day 14 when the murine cerebellar cortex becomes physiologically functional. There is also marked expression of Sca1 in mesenchymal cells of the intervertebral discs during development of the spinal column. These results suggest that the normal Sca1 gene, has a role at specific stages of both cerebellar and vertebral column development. © 1996 Oxford University Press Banfi Sandro Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut Servadio Antonio Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut Chung Ming-yi Department of Laboratory Medicine and Pathology, and Institute of Human Genetics aut Capozzoli Fiorentino Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut Duvick Lisa A. Department of Laboratory Medicine and Pathology, and Institute of Human Genetics aut Elde Robert Department of Cell Biology and Neuroanatomy, University of Minnesota, Minneapolis, MN 55455, USA aut Zoghbi Huda Y. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut Orr Harry T. Department of Laboratory Medicine and Pathology, and Institute of Human Genetics aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 33-40 0964-6906 5:1<33 1996 5 hmg https://doi.org/10.1093/hmg/5.1.33 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.33 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Banfi Sandro Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 700 1- Servadio Antonio Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 700 1- Chung Ming-yi Department of Laboratory Medicine and Pathology, and Institute of Human Genetics aut NATIONALLICENCE 700 1- Capozzoli Fiorentino Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 700 1- Duvick Lisa A. Department of Laboratory Medicine and Pathology, and Institute of Human Genetics aut NATIONALLICENCE 700 1- Elde Robert Department of Cell Biology and Neuroanatomy, University of Minnesota, Minneapolis, MN 55455, USA aut NATIONALLICENCE 700 1- Zoghbi Huda Y. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA aut NATIONALLICENCE 700 1- Orr Harry T. Department of Laboratory Medicine and Pathology, and Institute of Human Genetics aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 33-40 0964-6906 5:1<33 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford