메뉴 건너뛰기




Volumn 88, Issue 1, 2006, Pages 44-51

Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice

Author keywords

Cataracts; Expression; Gene; Hsf4; Insertion; Locus; Mapping; Mouse; Mutation; Transposon

Indexed keywords

HSF4 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 33744911966     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2006.02.012     Document Type: Article
Times cited : (21)

References (29)
  • 1
    • 0032799952 scopus 로고    scopus 로고
    • Cataract-A global perspective: output, outcome and outlay
    • Foster A. Cataract-A global perspective: output, outcome and outlay. Eye 13 (1999) 449-453
    • (1999) Eye , vol.13 , pp. 449-453
    • Foster, A.1
  • 6
    • 11144298645 scopus 로고    scopus 로고
    • Congenital hereditary cataracts
    • Graw J. Congenital hereditary cataracts. Int. J. Dev. Biol. 48 (2004) 1031-1044
    • (2004) Int. J. Dev. Biol. , vol.48 , pp. 1031-1044
    • Graw, J.1
  • 7
    • 0036235720 scopus 로고    scopus 로고
    • A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family
    • Pras E., et al. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am. J. Hum. Genet. 70 (2002) 1363-1367
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1363-1367
    • Pras, E.1
  • 8
    • 0033771250 scopus 로고    scopus 로고
    • A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family
    • Pras E., et al. A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest. Ophthalmol. Visual Sci. 41 (2000) 3511-3515
    • (2000) Invest. Ophthalmol. Visual Sci. , vol.41 , pp. 3511-3515
    • Pras, E.1
  • 9
    • 3242880191 scopus 로고    scopus 로고
    • A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract
    • Smaoui N., et al. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest. Ophthalmol. Visual Sci. 45 (2004) 2716-2721
    • (2004) Invest. Ophthalmol. Visual Sci. , vol.45 , pp. 2716-2721
    • Smaoui, N.1
  • 10
    • 24144438273 scopus 로고    scopus 로고
    • Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
    • Forshew T., et al. Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Hum. Genet. 117 (2005) 452-459
    • (2005) Hum. Genet. , vol.117 , pp. 452-459
    • Forshew, T.1
  • 11
    • 3042580045 scopus 로고    scopus 로고
    • A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts
    • Pras E., et al. A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest. Ophthalmol. Visual Sci. 45 (2004) 1940-1945
    • (2004) Invest. Ophthalmol. Visual Sci. , vol.45 , pp. 1940-1945
    • Pras, E.1
  • 12
    • 22144453269 scopus 로고    scopus 로고
    • Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families
    • Riazuddin S.A. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest. Ophthalmol. Visual Sci. 46 (2005) 2100-2106
    • (2005) Invest. Ophthalmol. Visual Sci. , vol.46 , pp. 2100-2106
    • Riazuddin, S.A.1
  • 13
    • 33947237989 scopus 로고    scopus 로고
    • Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse
    • Chang B., et al. Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse. Mol. Vision 5 (1999) 21
    • (1999) Mol. Vision , vol.5 , pp. 21
    • Chang, B.1
  • 14
    • 0036295909 scopus 로고    scopus 로고
    • The γS-crystallin gene is mutated in autosomal recessive cataract in mouse
    • Bu L., et al. The γS-crystallin gene is mutated in autosomal recessive cataract in mouse. Genomics 80 (2002) 38-44
    • (2002) Genomics , vol.80 , pp. 38-44
    • Bu, L.1
  • 15
    • 7044231250 scopus 로고    scopus 로고
    • The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1
    • Jablonski M.M., et al. The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1. Mol. Vision 10 (2004) 577-587
    • (2004) Mol. Vision , vol.10 , pp. 577-587
    • Jablonski, M.M.1
  • 16
    • 18544383003 scopus 로고    scopus 로고
    • Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
    • Bu L., et al. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. Nat. Genet. 31 (2002) 276-278
    • (2002) Nat. Genet. , vol.31 , pp. 276-278
    • Bu, L.1
  • 18
    • 0035874985 scopus 로고    scopus 로고
    • A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice
    • Sidjanin D.J., et al. A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice. Genomics 74 (2001) 313-319
    • (2001) Genomics , vol.74 , pp. 313-319
    • Sidjanin, D.J.1
  • 19
    • 0036667730 scopus 로고    scopus 로고
    • Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
    • Sidjanin D.J., et al. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum. Mol. Genet. 11 (2002) 1823-1833
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1823-1833
    • Sidjanin, D.J.1
  • 20
    • 12344311392 scopus 로고    scopus 로고
    • Endogenous N-cadherin in a subpopulation of MDCK cells: distribution and catenin complex composition
    • Youn Y., Hong J., and Burke J.M. Endogenous N-cadherin in a subpopulation of MDCK cells: distribution and catenin complex composition. Exp. Cell Res. 303 (2005) 275-286
    • (2005) Exp. Cell Res. , vol.303 , pp. 275-286
    • Youn, Y.1    Hong, J.2    Burke, J.M.3
  • 21
    • 0021798378 scopus 로고
    • Spatial distribution of transcripts of the long repeated ETn sequence during early mouse embryogenesis
    • Brulet P., Condamine H., and Jacob F. Spatial distribution of transcripts of the long repeated ETn sequence during early mouse embryogenesis. Proc. Natl. Acad. Sci. USA 82 (1985) 2054-2058
    • (1985) Proc. Natl. Acad. Sci. USA , vol.82 , pp. 2054-2058
    • Brulet, P.1    Condamine, H.2    Jacob, F.3
  • 22
    • 0142092446 scopus 로고    scopus 로고
    • Structure and expression of mobile ETnII retroelements and their coding-competent MusD relatives in the mouse
    • Baust C., Gagnier L., Baillie G.J., Harris M.J., Juriloff D.M., and Mager D.L. Structure and expression of mobile ETnII retroelements and their coding-competent MusD relatives in the mouse. J. Virol. 77 (2003) 11448-11458
    • (2003) J. Virol. , vol.77 , pp. 11448-11458
    • Baust, C.1    Gagnier, L.2    Baillie, G.J.3    Harris, M.J.4    Juriloff, D.M.5    Mager, D.L.6
  • 23
    • 0030031158 scopus 로고    scopus 로고
    • Mutations in the founder of the MIP gene family underlie cataract development in the mouse
    • Shiels A., and Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat. Genet. 12 (1996) 212-215
    • (1996) Nat. Genet. , vol.12 , pp. 212-215
    • Shiels, A.1    Bassnett, S.2
  • 24
    • 0032528839 scopus 로고    scopus 로고
    • Spontaneous mutations in SELH/Bc mice due to insertions of early transposons: molecular characterization of null alleles at the nude and albino loci
    • Hofmann M., Harris M., Juriloff D., and Boehm T. Spontaneous mutations in SELH/Bc mice due to insertions of early transposons: molecular characterization of null alleles at the nude and albino loci. Genomics 15 (1998) 107-109
    • (1998) Genomics , vol.15 , pp. 107-109
    • Hofmann, M.1    Harris, M.2    Juriloff, D.3    Boehm, T.4
  • 25
    • 12144275384 scopus 로고    scopus 로고
    • Unique contribution of heat shock transcription factor 4 in ocular lens development and fiber cell differentiation
    • Min J.N., Zhang Y., Moskophidis D., and Mivechi N.F. Unique contribution of heat shock transcription factor 4 in ocular lens development and fiber cell differentiation. Genesis 40 (2004) 205-217
    • (2004) Genesis , vol.40 , pp. 205-217
    • Min, J.N.1    Zhang, Y.2    Moskophidis, D.3    Mivechi, N.F.4
  • 26
    • 9144260619 scopus 로고    scopus 로고
    • HSF4 is required for normal cell growth and differentiation during mouse lens development
    • Fujimoto M., et al. HSF4 is required for normal cell growth and differentiation during mouse lens development. EMBO J. 23 (2004) 4297-4306
    • (2004) EMBO J. , vol.23 , pp. 4297-4306
    • Fujimoto, M.1
  • 27
    • 7244242430 scopus 로고    scopus 로고
    • Developmentally dictated expression of heat shock factors: exclusive expression of HSF4 in the postnatal lens and its specific interaction with alphaB-crystallin heat shock promoter
    • Somasundaram T., and Bhat S.P. Developmentally dictated expression of heat shock factors: exclusive expression of HSF4 in the postnatal lens and its specific interaction with alphaB-crystallin heat shock promoter. J. Biol. Chem. 279 (2004) 44497-44503
    • (2004) J. Biol. Chem. , vol.279 , pp. 44497-44503
    • Somasundaram, T.1    Bhat, S.P.2
  • 28
    • 0031032550 scopus 로고    scopus 로고
    • HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator
    • Nakai A., Tanabe M., Kawazoe Y., Inazawa J., Morimoto R.I., and Nagata K. HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator. Mol. Cell. Biol. 17 (1997) 469-481
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 469-481
    • Nakai, A.1    Tanabe, M.2    Kawazoe, Y.3    Inazawa, J.4    Morimoto, R.I.5    Nagata, K.6
  • 29
    • 0033600816 scopus 로고    scopus 로고
    • The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing
    • Tanabe M., et al. The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing. J. Biol. Chem. 274 (1999) 27845-27856
    • (1999) J. Biol. Chem. , vol.274 , pp. 27845-27856
    • Tanabe, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.