title: Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene.
abstract: Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by the expansion of a polyglutamine tract in the protein ataxin-7, a protein of unknown function. In order to analyze the expression pattern of wild type ataxin-7 in detail, the murine SCA7 gene homolog was cloned and the expression pattern in mice analyzed. The SCA7 mouse and human gene exhibit a high degree of identity at both DNA (88.2%) and protein (88.7%) level. The CAG repeat region, known to be polymorphic in man, is conserved in mouse but contained only five repeats in all mouse strains analyzed. The arrestin homology domain and the nuclear localization signal found in human ataxin-7 is also conserved in the murine homolog. Expression of ataxin-7 was detected during mouse embryonic development and in all adult mouse tissues examined by northern and western blots. In brain, immunohistological staining revealed an ataxin-7 expression pattern similar to that in human, with ataxin-7 expression in cerebellum, several brainstem nuclei, cerebral cortex and hippocampus. Our data show high conservation of ataxin-7 both structurally and at the level of expression, suggesting a conserved role for the protein in mice and humans.
authors.affiliation: Department of Molecular Biology, Umeå University, SE-901 87, Umeå, Sweden.
authors.forename: Anna Lena
authors.initials: AL
authors.lastname: Ström
authors.forename: Jenni
authors.initials: J
authors.lastname: Jonasson
authors.forename: Patricia
authors.initials: P
authors.lastname: Hart
authors.forename: Thomas
authors.initials: T
authors.lastname: Brännström
authors.forename: Lars
authors.initials: L
authors.lastname: Forsgren
authors.forename: Monica
authors.initials: M
authors.lastname: Holmberg
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000067719:Ataxin-7; D015152:Blotting, Northern; D015153:Blotting, Western; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004622:Embryo, Mammalian / Q000378:metabolism; D015870:Gene Expression; D018507:Gene Expression Regulation, Developmental; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D009420:Nervous System / Q000254:growth & development / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013737:Testis / Q000378:metabolism
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; C000593831:Atxn7 protein, mouse; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins