Literature DB >> 16293225

Generation and characterization of Sca2 (ataxin-2) knockout mice.

Tim-Rasmus Kiehl1, Alex Nechiporuk, Karla P Figueroa, Mark T Keating, Duong P Huynh, Stefan-M Pulst.   

Abstract

Ataxin-2, the gene product of the Spinocerebellar Ataxia Type 2 (SCA2) gene, is a protein of unknown function with abundant expression in embryonic and adult tissues. Its interaction with A2BP1/Fox-1, a protein with an RNA recognition motif, suggests involvement of ataxin-2 in mRNA translation or transport. To study the effects of in vivo ataxin-2 function, we generated an ataxin-2 deficient mouse strain. Ataxin-2 deficient mice were viable. Genotypic analysis of litters from mating of heterozygous mice showed segregation distortion with a significant reduction in the birth of Sca-/- females. Detailed macroscopic and microscopic analysis of surviving nullizygous Sca2 knockout mice showed no major histological abnormalities. On a fat-enriched diet, ataxin-2 deficient animals had increased weight gain. Our results demonstrate that ataxin-2, although widely expressed, is not essential in development or during adult survival in the mouse, but leads to adult-onset obesity.

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Year:  2005        PMID: 16293225     DOI: 10.1016/j.bbrc.2005.10.186

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  54 in total

1.  Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.

Authors:  José Miguel Laffita-Mesa; Luis C Velázquez-Pérez; Nieves Santos Falcón; Tania Cruz-Mariño; Yanetza González Zaldívar; Yaimee Vázquez Mojena; Dennis Almaguer-Gotay; Luis Enrique Almaguer Mederos; Roberto Rodríguez Labrada
Journal:  Eur J Hum Genet       Date:  2011-09-21       Impact factor: 4.246

Review 2.  Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias.

Authors:  Melissa A C Ingram; Harry T Orr; H Brent Clark
Journal:  Brain Res Bull       Date:  2011-07-23       Impact factor: 4.077

3.  Candidate genes for plasma triglyceride, FFA, and glucose revealed from an intercross between inbred mouse strains NZB/B1NJ and NZW/LacJ.

Authors:  Zhiguang Su; Shirng-wern Tsaih; Jin Szatkiewicz; Yuan Shen; Beverly Paigen
Journal:  J Lipid Res       Date:  2008-03-24       Impact factor: 5.922

4.  Therapeutic prospects for spinocerebellar ataxia type 2 and 3.

Authors:  Ilya Bezprozvanny; Thomas Klockgether
Journal:  Drugs Future       Date:  2009-12       Impact factor: 0.148

5.  Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro.

Authors:  Guangbin Xia; Katherine Santostefano; Takashi Hamazaki; Jilin Liu; S H Subramony; Naohiro Terada; Tetsuo Ashizawa
Journal:  J Mol Neurosci       Date:  2012-12-09       Impact factor: 3.444

6.  Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7.

Authors:  Pavitra S Ramachandran; Ryan L Boudreau; Kellie A Schaefer; Albert R La Spada; Beverly L Davidson
Journal:  Mol Ther       Date:  2014-06-16       Impact factor: 11.454

Review 7.  12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?

Authors:  Georg Auburger; Suzana Gispert; Suna Lahut; Ozgür Omür; Ewa Damrath; Melanie Heck; Nazlı Başak
Journal:  World J Diabetes       Date:  2014-06-15

8.  Evaluation of A2BP1 as an obesity gene.

Authors:  Lijun Ma; Robert L Hanson; Michael T Traurig; Yunhua L Muller; Bakhshish P Kaur; Jessica M Perez; David Meyre; Mao Fu; Antje Körner; Paul W Franks; Wieland Kiess; Sayuko Kobes; William C Knowler; Peter Kovacs; Philippe Froguel; Alan R Shuldiner; Clifton Bogardus; Leslie J Baier
Journal:  Diabetes       Date:  2010-08-19       Impact factor: 9.461

9.  Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis.

Authors:  Juan Crespo-Barreto; John D Fryer; Chad A Shaw; Harry T Orr; Huda Y Zoghbi
Journal:  PLoS Genet       Date:  2010-07-08       Impact factor: 5.917

10.  Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.

Authors:  Karla P Figueroa; Sadaf Farooqi; Kristopher Harrup; Johnathan Frank; Stephen O'Rahilly; Stefan M Pulst
Journal:  PLoS One       Date:  2009-12-14       Impact factor: 3.240

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