메뉴 건너뛰기




Volumn 411, Issue 1-2, 2008, Pages 94-102

Insertion of an intracisternal A particle retrotransposon element in plasma membrane calcium ATPase 2 gene attenuates its expression and produces an ataxic phenotype in joggle mutant mice

Author keywords

Inherited ataxia; Long terminal repeat; Mus musculus molossinus; Nonsense mediated mRNA decay; Positional cloning

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); ADENOSINE TRIPHOSPHATASE (CALCIUM) 2; MESSENGER RNA; UNCLASSIFIED DRUG;

EID: 39649107955     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2008.01.013     Document Type: Article
Times cited : (11)

References (29)
  • 2
    • 0036142862 scopus 로고    scopus 로고
    • Killing the messenger: New insights into nonsense-mediated mRNA decay
    • Byers P.H. Killing the messenger: New insights into nonsense-mediated mRNA decay. J. Clin. Invest. 109 (2002) 3-6
    • (2002) J. Clin. Invest. , vol.109 , pp. 3-6
    • Byers, P.H.1
  • 4
    • 0346118861 scopus 로고    scopus 로고
    • Molecular basis of constitutive production of basement membrane components: Gene expression profiles of Engelbreth-Holm-Swarm tumor and F9 embryonal carcinoma cells
    • Futaki S., et al. Molecular basis of constitutive production of basement membrane components: Gene expression profiles of Engelbreth-Holm-Swarm tumor and F9 embryonal carcinoma cells. J. Biol. Chem. 278 (2003) 50691-50701
    • (2003) J. Biol. Chem. , vol.278 , pp. 50691-50701
    • Futaki, S.1
  • 5
    • 0000181567 scopus 로고    scopus 로고
    • Plasma membrane calcium ATPases as critical regulators of calcium homeostasis during neuronal cell function
    • Garcia M.L., and Strehler E.E. Plasma membrane calcium ATPases as critical regulators of calcium homeostasis during neuronal cell function. Front. Biosci. 4 (1999) D869-D882
    • (1999) Front. Biosci. , vol.4
    • Garcia, M.L.1    Strehler, E.E.2
  • 6
    • 0031770826 scopus 로고    scopus 로고
    • Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse
    • Gwynn B., Lueders K., Sands M.S., and Birkenmeier E.H. Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse. Mol. Cell. Biol. 18 (1998) 6474-6481
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 6474-6481
    • Gwynn, B.1    Lueders, K.2    Sands, M.S.3    Birkenmeier, E.H.4
  • 7
    • 0031006852 scopus 로고    scopus 로고
    • The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression
    • Hamilton B.A., et al. The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression. Neuron 18 (1997) 711-722
    • (1997) Neuron , vol.18 , pp. 711-722
    • Hamilton, B.A.1
  • 8
    • 0032568940 scopus 로고    scopus 로고
    • Molecular cloning of sucrase-isomaltase cDNA in the house musk shrew Suncus murinus and identification of a mutation responsible for isolated sucrase deficiency
    • Ito T., Hayashi Y., Ohmori S., Oda S., and Seo H. Molecular cloning of sucrase-isomaltase cDNA in the house musk shrew Suncus murinus and identification of a mutation responsible for isolated sucrase deficiency. J. Biol. Chem. 273 (1998) 16464-16469
    • (1998) J. Biol. Chem. , vol.273 , pp. 16464-16469
    • Ito, T.1    Hayashi, Y.2    Ohmori, S.3    Oda, S.4    Seo, H.5
  • 10
    • 0033061834 scopus 로고    scopus 로고
    • Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome
    • Johnson K.R., et al. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum. Mol. Genet. 8 (1999) 645-653
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 645-653
    • Johnson, K.R.1
  • 11
    • 0037374337 scopus 로고    scopus 로고
    • Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion
    • Kantheti P., et al. Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Mamm. Genome 14 (2003) 157-167
    • (2003) Mamm. Genome , vol.14 , pp. 157-167
    • Kantheti, P.1
  • 12
    • 14444278959 scopus 로고    scopus 로고
    • 2+-ATPase isoform 2
    • 2+-ATPase isoform 2. J. Biol. Chem. 273 (1998) 18693-18696
    • (1998) J. Biol. Chem. , vol.273 , pp. 18693-18696
    • Kozel, P.J.1
  • 13
    • 0024254164 scopus 로고
    • The intracisternal A-particle gene family: structure and functional aspects
    • Kuff E.L., and Lueders K.K. The intracisternal A-particle gene family: structure and functional aspects. Adv. Cancer Res. 51 (1988) 183-276
    • (1988) Adv. Cancer Res. , vol.51 , pp. 183-276
    • Kuff, E.L.1    Lueders, K.K.2
  • 14
    • 0001743627 scopus 로고
    • New mutants and linkages: deafwaddler (dfw)
    • Lane P.W. New mutants and linkages: deafwaddler (dfw). Mouse News Lett. 77 (1987) 129
    • (1987) Mouse News Lett. , vol.77 , pp. 129
    • Lane, P.W.1
  • 16
    • 0001329015 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay
    • Maquat L.E. Nonsense-mediated mRNA decay. Curr. Biol. 12 (2002) R196-R197
    • (2002) Curr. Biol. , vol.12
    • Maquat, L.E.1
  • 17
    • 0030659604 scopus 로고    scopus 로고
    • Theoretical and empirical issues for marker-assisted breeding of congenic mouse strains
    • Markel P., et al. Theoretical and empirical issues for marker-assisted breeding of congenic mouse strains. Nat. Genet. 17 (1997) 280-284
    • (1997) Nat. Genet. , vol.17 , pp. 280-284
    • Markel, P.1
  • 18
    • 4444263240 scopus 로고    scopus 로고
    • Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
    • McCullough B.J., and Tempel B.L. Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia. Hear. Res. 195 (2004) 90-102
    • (2004) Hear. Res. , vol.195 , pp. 90-102
    • McCullough, B.J.1    Tempel, B.L.2
  • 19
    • 0035900647 scopus 로고    scopus 로고
    • When the message goes awry: Disease-producing mutations that influence mRNA content and performance
    • Mendell J.T., and Dietz H.C. When the message goes awry: Disease-producing mutations that influence mRNA content and performance. Cell 107 (2001) 411-414
    • (2001) Cell , vol.107 , pp. 411-414
    • Mendell, J.T.1    Dietz, H.C.2
  • 20
    • 0035185591 scopus 로고    scopus 로고
    • Characterization of the deafwaddler mutant of the rat plasma membrane calcium-ATPase 2
    • Penheiter A.R., Filoteo A.G., Croy C.L., and Penniston J.T. Characterization of the deafwaddler mutant of the rat plasma membrane calcium-ATPase 2. Hear. Res. 162 (2001) 19-28
    • (2001) Hear. Res. , vol.162 , pp. 19-28
    • Penheiter, A.R.1    Filoteo, A.G.2    Croy, C.L.3    Penniston, J.T.4
  • 22
    • 20144389358 scopus 로고    scopus 로고
    • Modification of human hearing loss by plasma-membrane calcium pump PMCA2
    • Schultz J.M., et al. Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N. Engl. J. Med. 352 (2005) 1557-1564
    • (2005) N. Engl. J. Med. , vol.352 , pp. 1557-1564
    • Schultz, J.M.1
  • 25
    • 0035137205 scopus 로고    scopus 로고
    • Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps
    • Strehler E.E., and Zacharias D.A. Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps. Physiol. Rev. 81 (2001) 21-50
    • (2001) Physiol. Rev. , vol.81 , pp. 21-50
    • Strehler, E.E.1    Zacharias, D.A.2
  • 26
    • 37349087497 scopus 로고    scopus 로고
    • Mapping of jog locus to the region between D6Mit104 and D6Mit336 on mouse chromosome 6
    • Sun X., et al. Mapping of jog locus to the region between D6Mit104 and D6Mit336 on mouse chromosome 6. Exp. Anim. 56 (2007) 389-392
    • (2007) Exp. Anim. , vol.56 , pp. 389-392
    • Sun, X.1
  • 27
    • 0033546752 scopus 로고    scopus 로고
    • A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in Wriggle Mouse Sagami
    • Takahashi K., and Kitamura K. A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in Wriggle Mouse Sagami. Biochem. Biophys. Res. Commun. 261 (1999) 773-778
    • (1999) Biochem. Biophys. Res. Commun. , vol.261 , pp. 773-778
    • Takahashi, K.1    Kitamura, K.2
  • 28
    • 33746054963 scopus 로고    scopus 로고
    • A de novo deafwaddler mutation of Pmca2 arising in ES cells and hitchhiking with a targeted modification of the Pparg gene
    • Tsai Y.S., et al. A de novo deafwaddler mutation of Pmca2 arising in ES cells and hitchhiking with a targeted modification of the Pparg gene. Mamm. Genome 17 (2006) 716-722
    • (2006) Mamm. Genome , vol.17 , pp. 716-722
    • Tsai, Y.S.1
  • 29
    • 0037379663 scopus 로고    scopus 로고
    • Modelling brain diseases in mice: the challenges of design and analysis
    • Watase K., and Zoghbi H.Y. Modelling brain diseases in mice: the challenges of design and analysis. Nat. Rev. Genet. 4 (2003) 296-307
    • (2003) Nat. Rev. Genet. , vol.4 , pp. 296-307
    • Watase, K.1    Zoghbi, H.Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.