Reference Report

Reference
Citation	Satterfield, T.F., Jackson, S.M., Pallanck, L.J. (2002). A Drosophila Homolog of the Polyglutamine Disease Gene SCA2 Is a Dosage-Sensitive Regulator of Actin Filament Formation. Genetics 162(4): 1687--1702. (Export to RIS)
FlyBase ID	FBrf0155519
Publication Type	Research paper
PubMed ID	12524342
PubMed Abstract	Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the expansion of a CAG repeat encoding a polyglutamine tract in ataxin-2, the SCA2 gene product. The normal cellular function of ataxin-2 and the mechanism by which polyglutamine expansion of ataxin-2 causes neurodegeneration remain unknown. In this study we have used genetic and molecular approaches to investigate the function of a Drosophila homolog of the SCA2 gene (Datx2). Like human ataxin-2, Datx2 is found throughout development in a variety of tissue types and localizes to the cytoplasm. Mutations that reduce Datx2 activity or transgenic overexpression of Datx2 result in female sterility, aberrant sensory bristle morphology, loss or degeneration of tissues, and lethality. These phenotypes appear to result from actin filament formation defects occurring downstream of actin synthesis. Further studies demonstrate that Datx2 does not assemble with actin filaments, suggesting that the role of Datx2 in actin filament formation is indirect. These results indicate that Datx2 is a dosage-sensitive regulator of actin filament formation. Given that loss of cytoskeleton-dependent dendritic structure defines an early event in SCA2 pathogenesis, our findings suggest the possibility that dysregulation of actin cytoskeletal structure resulting from altered ataxin-2 activity is responsible for neurodegeneration in SCA2.
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Genetics
Title	Genetics
Publication Year	1916-
ISBN/ISSN	0016-6731
Data from Reference
Aberrations (1)
	Df(3R)Po4
Alleles (13)
	Atx2⁰⁶⁴⁹⁰ Atx2^06490PE Atx2^EP3022 Atx2^EP3145 Atx2^Scer\UAS.cSa Atx2^X1 Atx2^X2 Scer\GAL4^elav-C155 Scer\GAL4^ey.PH Scer\GAL4^GMR.PF Scer\GAL4^how-24B Scer\GAL4^hs.PB w^+mC
Constructs (4)
	P{GAL4-ey.H} P{GAL4-Hsp70.PB} P{GAL4-ninaE.GMR} P{UAS-Atx2.S}
Genes (4)
	Atx2 elav Scer\GAL4 w
Insertions (8)
	P{EP}Atx2^EP3022 P{EP}Atx2^EP3145 P{GawB}elav^C155 P{GawB}how^24B P{PZ}Atx2⁰⁶⁴⁹⁰ P{UAS-Atx2.S}1B P{UAS-Atx2.S}3 P{UAS-Atx2.S}4