메뉴 건너뛰기




Volumn 12, Issue 16, 2003, Pages 2063-2076

Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; BRCA1 PROTEIN; FANCONI ANEMIA GROUP A PROTEIN; NEOMYCIN; NUCLEAR PROTEIN; PROTEIN MLH1; RAD51 PROTEIN; UNCLASSIFIED DRUG;

EID: 0042921156     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg219     Document Type: Review
Times cited : (144)

References (68)
  • 1
    • 0035379611 scopus 로고    scopus 로고
    • The emerging genetic and molecular basis of Fanconi anaemia
    • Joenje, H. and Patel, K.J. (2001) The emerging genetic and molecular basis of Fanconi anaemia. Nat. Rev. Genet., 2, 446-457.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 446-457
    • Joenje, H.1    Patel, K.J.2
  • 2
    • 0035474694 scopus 로고    scopus 로고
    • Fanconi anemia and DNA repair
    • Grompe, M. and D'Andrea, A. (2001) Fanconi anemia and DNA repair. Hum. Mol. Genet., 10, 2253-2259.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2253-2259
    • Grompe, M.1    D'Andrea, A.2
  • 4
    • 0037439356 scopus 로고    scopus 로고
    • Cancer in Fanconi anemia, 1927-2001
    • Alter, B.P. (2003) Cancer in Fanconi anemia, 1927-2001. Cancer, 97, 425-440.
    • (2003) Cancer , vol.97 , pp. 425-440
    • Alter, B.P.1
  • 5
    • 0037214260 scopus 로고    scopus 로고
    • Genetic basis of Fanconi anemia
    • Bagby, G.C., Jr (2003) Genetic basis of Fanconi anemia. Curr. Opin. Hematol., 10, 68-76.
    • (2003) Curr. Opin. Hematol. , vol.10 , pp. 68-76
    • Bagby G.C., Jr.1
  • 6
    • 0037268338 scopus 로고    scopus 로고
    • The Fanconi anaemia/BRCA pathway
    • D'Andrea, A.D. and Grompe, M. (2003) The Fanconi anaemia/BRCA pathway. Nat. Rev. Cancer, 3, 23-34.
    • (2003) Nat. Rev. Cancer , vol.3 , pp. 23-34
    • D'Andrea, A.D.1    Grompe, M.2
  • 10
    • 0036785375 scopus 로고    scopus 로고
    • S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51
    • Taniguchi, T., Garcia-Higuera, I., Andreassen, P.R., Gregory, R.C., Grompe, M. and D'Andrea, A.D. (2002) S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51. Blood, 100, 2414-2420.
    • (2002) Blood , vol.100 , pp. 2414-2420
    • Taniguchi, T.1    Garcia-Higuera, I.2    Andreassen, P.R.3    Gregory, R.C.4    Grompe, M.5    D'Andrea, A.D.6
  • 12
    • 0033047314 scopus 로고    scopus 로고
    • Characterization of regions functional in the nuclear localization of the Fanconi anemia group A protein
    • Lightfoot, J., Alon, N., Bosnoyan-Collins, L. and Buchwald, M. (1999) Characterization of regions functional in the nuclear localization of the Fanconi anemia group A protein. Hum. Mol. Genet., 8, 1007-1015.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1007-1015
    • Lightfoot, J.1    Alon, N.2    Bosnoyan-Collins, L.3    Buchwald, M.4
  • 15
    • 0033619777 scopus 로고    scopus 로고
    • SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein
    • Otsuki, T., Kajigaya, S., Ozawa, K. and Liu, J.M. (1999) SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. Biochem. Biophys. Res. Commun., 265, 630-635.
    • (1999) Biochem. Biophys. Res. Commun. , vol.265 , pp. 630-635
    • Otsuki, T.1    Kajigaya, S.2    Ozawa, K.3    Liu, J.M.4
  • 17
    • 0037350437 scopus 로고    scopus 로고
    • Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links
    • Sridharan, D., Brown, M., Lambert, W.C., McMahon, L.W. and Lambert, M.W. (2003) Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links. J. Cell. Sci., 116, 823-835.
    • (2003) J. Cell. Sci. , vol.116 , pp. 823-835
    • Sridharan, D.1    Brown, M.2    Lambert, W.C.3    McMahon, L.W.4    Lambert, M.W.5
  • 19
    • 0034253947 scopus 로고    scopus 로고
    • Cloning and analysis of the mouse Fanconi anemia group A cDNA and an overlapping penta zinc finger cDNA
    • Wong, J.C., Alon, N., Norga, K., Kruyt, F.A., Youssoufian, H. and Buchwald, M. (2000) Cloning and analysis of the mouse Fanconi anemia group A cDNA and an overlapping penta zinc finger cDNA. Genomics, 67, 273-283.
    • (2000) Genomics , vol.67 , pp. 273-283
    • Wong, J.C.1    Alon, N.2    Norga, K.3    Kruyt, F.A.4    Youssoufian, H.5    Buchwald, M.6
  • 23
    • 0042095752 scopus 로고    scopus 로고
    • Genetic background effects on the interpretation of phenotypes in induced mutant mice
    • Ward, J.M., Mahler, J.F., Maronpot, R.R. and Sundberg, J.P. (eds), Iowa State University Press, Ames, Iowa
    • Mahler, J.F. (2000) Genetic background effects on the interpretation of phenotypes in induced mutant mice. In Ward, J.M., Mahler, J.F., Maronpot, R.R. and Sundberg, J.P. (eds), Pathology of Genetically Engineered Mice. Iowa State University Press, Ames, Iowa, pp. 137-144.
    • (2000) Pathology of Genetically Engineered Mice , pp. 137-144
    • Mahler, J.F.1
  • 24
    • 0025147087 scopus 로고
    • Primordial germ cells in the mouse embryo during gastrulation
    • Ginsburg, M., Snow, M.H. and McLaren, A. (1990) Primordial germ cells in the mouse embryo during gastrulation. Development, 110, 521-528.
    • (1990) Development , vol.110 , pp. 521-528
    • Ginsburg, M.1    Snow, M.H.2    McLaren, A.3
  • 25
    • 0027441038 scopus 로고
    • Purification, culture, and fractionation of spermatogenic cells
    • Bellve, A.R. (1993) Purification, culture, and fractionation of spermatogenic cells. Methods Enzymol., 225, 84-113.
    • (1993) Methods Enzymol. , vol.225 , pp. 84-113
    • Bellve, A.R.1
  • 27
    • 0035235564 scopus 로고    scopus 로고
    • Checkpoint and DNA-repair proteins are associated with the cores of mammalian meiotic chromosomes
    • Tarsounas, M. and Moens, P.B. (2001) Checkpoint and DNA-repair proteins are associated with the cores of mammalian meiotic chromosomes. Curr. Top. Dev. Biol., 51, 109-134.
    • (2001) Curr. Top. Dev. Biol. , vol.51 , pp. 109-134
    • Tarsounas, M.1    Moens, P.B.2
  • 29
    • 0037173719 scopus 로고    scopus 로고
    • Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1
    • Godthelp, B.C., Artwert, F., Joenje, H. and Zdzienicka, M.Z. (2002) Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1. Oncogene, 21, 5002-5005.
    • (2002) Oncogene , vol.21 , pp. 5002-5005
    • Godthelp, B.C.1    Artwert, F.2    Joenje, H.3    Zdzienicka, M.Z.4
  • 30
    • 0032918559 scopus 로고    scopus 로고
    • Distribution of crossing over on mouse synaptonemal complexes using immunofluorescent localization of MLH1 protein
    • Anderson, L.K., Reeves, A., Webb, L.M. and Ashley, T. (1999) Distribution of crossing over on mouse synaptonemal complexes using immunofluorescent localization of MLH1 protein. Genetics, 151, 1569-1579.
    • (1999) Genetics , vol.151 , pp. 1569-1579
    • Anderson, L.K.1    Reeves, A.2    Webb, L.M.3    Ashley, T.4
  • 33
    • 0034651233 scopus 로고    scopus 로고
    • The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients
    • Futaki, M., Yamashita, T., Yagasaki, H., Toda, T., Yabe, M., Kato, S., Asano, S. and Nakahata, T. (2000) The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood, 95, 1493-1498.
    • (2000) Blood , vol.95 , pp. 1493-1498
    • Futaki, M.1    Yamashita, T.2    Yagasaki, H.3    Toda, T.4    Yabe, M.5    Kato, S.6    Asano, S.7    Nakahata, T.8
  • 34
    • 0033607530 scopus 로고    scopus 로고
    • Resistance to mitomycin C requires direct interaction between the Fanconi anemia proteins FANCA and FANCG in the nucleus through an arginine-rich domain
    • Kruyt, F.A., Abou-Zahr, F., Mok, H. and Youssoufian, H. (1999) Resistance to mitomycin C requires direct interaction between the Fanconi anemia proteins FANCA and FANCG in the nucleus through an arginine-rich domain. J. Biol. Chem., 274, 34212-34218.
    • (1999) J. Biol. Chem. , vol.274 , pp. 34212-34218
    • Kruyt, F.A.1    Abou-Zahr, F.2    Mok, H.3    Youssoufian, H.4
  • 35
    • 0027500435 scopus 로고
    • Generic control of ocular morphogenesis: Defective lens development associated with ocular anomalies in C57BL/6 mice
    • Robinson, M.L., Holmgren, A. and Dewey, M.J. (1993) Generic control of ocular morphogenesis: defective lens development associated with ocular anomalies in C57BL/6 mice. Exp. Eye Res., 56, 7-16.
    • (1993) Exp. Eye Res. , vol.56 , pp. 7-16
    • Robinson, M.L.1    Holmgren, A.2    Dewey, M.J.3
  • 36
    • 0019800552 scopus 로고
    • Fetal alcohol syndrome: Embryogenesis in a mouse model
    • Sulik, K.K., Johnston, M.C. and Webb, M.A. (1981) Fetal alcohol syndrome: embryogenesis in a mouse model. Science, 214, 936-938.
    • (1981) Science , vol.214 , pp. 936-938
    • Sulik, K.K.1    Johnston, M.C.2    Webb, M.A.3
  • 38
    • 0032956991 scopus 로고    scopus 로고
    • Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family
    • Koc, A., Pronk, J.C., Alikasifoglu, M., Joenje, H. and Altay, C. (1999) Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family. Br. J. Haematol., 104, 127-130.
    • (1999) Br. J. Haematol. , vol.104 , pp. 127-130
    • Koc, A.1    Pronk, J.C.2    Alikasifoglu, M.3    Joenje, H.4    Altay, C.5
  • 39
    • 0036093550 scopus 로고    scopus 로고
    • Disease model: Fanconi anemia
    • Wong, J.C. and Buchwald, M. (2002) Disease model: Fanconi anemia. Trends Mol. Med., 8, 139-142.
    • (2002) Trends Mol. Med. , vol.8 , pp. 139-142
    • Wong, J.C.1    Buchwald, M.2
  • 40
    • 0033851758 scopus 로고    scopus 로고
    • Fanconi anemia complementation group C is required for proliferation of murine primordial germ cells
    • Nadler, J.J. and Braun, R.E. (2000) Fanconi anemia complementation group C is required for proliferation of murine primordial germ cells. Genesis, 27, 117-123.
    • (2000) Genesis , vol.27 , pp. 117-123
    • Nadler, J.J.1    Braun, R.E.2
  • 41
    • 0033566299 scopus 로고    scopus 로고
    • Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis
    • Abu-Issa, R., Eichele, G. and Youssoufian, H. (1999) Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis. Blood, 94, 818-824.
    • (1999) Blood , vol.94 , pp. 818-824
    • Abu-Issa, R.1    Eichele, G.2    Youssoufian, H.3
  • 42
    • 0037112817 scopus 로고    scopus 로고
    • A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd
    • Agoulnik, A.I., Lu, B., Zhu, Q., Truong, C., Ty, M.T., Arango, N., Chada, K.K. and Bishop, C.E. (2002) A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd. Hum. Mol. Genet., 11, 3047-3053.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 3047-3053
    • Agoulnik, A.I.1    Lu, B.2    Zhu, Q.3    Truong, C.4    Ty, M.T.5    Arango, N.6    Chada, K.K.7    Bishop, C.E.8
  • 43
    • 0032478283 scopus 로고    scopus 로고
    • RNA-binding protein TIAR is essential for primordial germ cell development
    • Beck A.R., Miller, I.J., Anderson, P. and Streuli, M. (1998) RNA-binding protein TIAR is essential for primordial germ cell development. Proc. Natl Acad. Sci. USA, 95, 2331-2336.
    • (1998) Proc. Natl. Acad. Sci. USA , vol.95 , pp. 2331-2336
    • Beck, A.R.1    Miller, I.J.2    Anderson, P.3    Streuli, M.4
  • 44
    • 0025939841 scopus 로고
    • Effect of Steel factor and leukaemia inhibitory factor on murine primordial germ cells in culture
    • Matsui, Y., Toksoz, D., Nishikawa, S., Williams, D., Zsebo, K. and Hogan, B.L. (1991) Effect of Steel factor and leukaemia inhibitory factor on murine primordial germ cells in culture. Nature, 353, 750-752.
    • (1991) Nature , vol.353 , pp. 750-752
    • Matsui, Y.1    Toksoz, D.2    Nishikawa, S.3    Williams, D.4    Zsebo, K.5    Hogan, B.L.6
  • 45
    • 0033754885 scopus 로고    scopus 로고
    • The role of stem cell factor and of alternative c-kit gene products in the establishment, maintenance and function of germ cells
    • Sette, C., Dolci, S., Geremia, R. and Rossi, R (2000) The role of stem cell factor and of alternative c-kit gene products in the establishment, maintenance and function of germ cells. Int. J. Dev. Biol., 44, 599-608.
    • (2000) Int. J. Dev. Biol. , vol.44 , pp. 599-608
    • Sette, C.1    Dolci, S.2    Geremia, R.3    Rossi, R.4
  • 47
    • 0033781210 scopus 로고    scopus 로고
    • Defining the roles of nucleotide excision repair and recombination in the repair of DNA interstrand cross-links in mammalian cells
    • De Silva, I.U., McHugh, P.J., Clingen, P.H. and Hartley, J.A. (2000) Defining the roles of nucleotide excision repair and recombination in the repair of DNA interstrand cross-links in mammalian cells. Mol. Cell. Biol., 20, 7980-7990.
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 7980-7990
    • De Silva, I.U.1    McHugh, P.J.2    Clingen, P.H.3    Hartley, J.A.4
  • 50
    • 0037150670 scopus 로고    scopus 로고
    • Sex matters in meiosis
    • Hunt, P.A. and Hassold, T.J. (2002) Sex matters in meiosis. Science, 296, 2181-2183.
    • (2002) Science , vol.296 , pp. 2181-2183
    • Hunt, P.A.1    Hassold, T.J.2
  • 51
    • 0038296998 scopus 로고    scopus 로고
    • Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice
    • Xu, X, Aprelikova, O., Moens, P., Deng, C.X. and Furth, P.A. (2003) Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full-length isoform deficient mice. Development, 130, 2001-2012.
    • (2003) Development , vol.130 , pp. 2001-2012
    • Xu, X.1    Aprelikova, O.2    Moens, P.3    Deng, C.X.4    Furth, P.A.5
  • 52
    • 0037089080 scopus 로고    scopus 로고
    • The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination
    • Moens, P.B., Kolas, N.K., Tarsounas, M., Marcon, E., Cohen, P.E. and Spyropoulos, B. (2002) The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination. J. Cell. Sci., 115, 1611-1622.
    • (2002) J. Cell. Sci. , vol.115 , pp. 1611-1622
    • Moens, P.B.1    Kolas, N.K.2    Tarsounas, M.3    Marcon, E.4    Cohen, P.E.5    Spyropoulos, B.6
  • 53
    • 0030854142 scopus 로고    scopus 로고
    • Elevated homologous recombination activity in fanconi anemia fibroblasts
    • Thyagarajan, B. and Campbell, C. (1997) Elevated homologous recombination activity in fanconi anemia fibroblasts. J. Biol. Chem., 272, 23328-23333.
    • (1997) J. Biol. Chem. , vol.272 , pp. 23328-23333
    • Thyagarajan, B.1    Campbell, C.2
  • 57
    • 0034654307 scopus 로고    scopus 로고
    • Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses
    • Kissel, H., Timokhina, I., Hardy, M.P., Rothschild, G., Tajima, Y., Soares, V., Angeles, M., Whitlow, S.R., Manova, K. and Besmer, P. (2000) Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J., 19, 1312-1326.
    • (2000) EMBO J. , vol.19 , pp. 1312-1326
    • Kissel, H.1    Timokhina, I.2    Hardy, M.P.3    Rothschild, G.4    Tajima, Y.5    Soares, V.6    Angeles, M.7    Whitlow, S.R.8    Manova, K.9    Besmer, P.10
  • 59
    • 0028923296 scopus 로고
    • Targeted overexpression of luteinizing hormone in transgenic mice leads to infertility, polycystic ovaries, and ovarian tumors
    • Risma, K.A., Clay, C.M., Nett, T.M., Wagner, T., Yun, J. and Nilson, J.H. (1995) Targeted overexpression of luteinizing hormone in transgenic mice leads to infertility, polycystic ovaries, and ovarian tumors. Proc. Natl Acad. Sci. USA, 92, 1322-1326.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 1322-1326
    • Risma, K.A.1    Clay, C.M.2    Nett, T.M.3    Wagner, T.4    Yun, J.5    Nilson, J.H.6
  • 60
    • 0036750605 scopus 로고    scopus 로고
    • Mouse genetics provides insight into folliculogenesis, fertilization and early embryonic development
    • Amleh, A. and Dean, J. (2002) Mouse genetics provides insight into folliculogenesis, fertilization and early embryonic development. Hum. Reprod. Update, 8, 395-403.
    • (2002) Hum. Reprod. Update , vol.8 , pp. 395-403
    • Amleh, A.1    Dean, J.2
  • 61
    • 0030972375 scopus 로고    scopus 로고
    • The winged helix gene, Mf3, is required for normal development of the diencephalon and midbrain, postnatal growth and the milk-ejection reflex
    • Labosky, P.A., Winnier, G.E., Jetton, T.L., Hargett, L., Ryan, A.K., Rosenfeld, M.G., Parlow, A.F. and Hogan, B.L. (1997) The winged helix gene, Mf3, is required for normal development of the diencephalon and midbrain, postnatal growth and the milk-ejection reflex. Development, 124, 1263-1274.
    • (1997) Development , vol.124 , pp. 1263-1274
    • Labosky, P.A.1    Winnier, G.E.2    Jetton, T.L.3    Hargett, L.4    Ryan, A.K.5    Rosenfeld, M.G.6    Parlow, A.F.7    Hogan, B.L.8
  • 62
    • 0027321548 scopus 로고
    • Derivation of completely cell culture-derived mice from early-passage embryonic stem cells
    • Nagy, A., Rossant, J., Nagy, R., Abramow-Newerly, W. and Roder, J.C. (1993) Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc. Natl Acad. Sci. USA, 90, 8424-8428.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 8424-8428
    • Nagy, A.1    Rossant, J.2    Nagy, R.3    Abramow-Newerly, W.4    Roder, J.C.5
  • 63
    • 0034059140 scopus 로고    scopus 로고
    • Cre recombinase: The universal reagent for genome tailoring
    • Nagy, A. (2000) Cre recombinase: the universal reagent for genome tailoring. Genesis, 26, 99-109.
    • (2000) Genesis , vol.26 , pp. 99-109
    • Nagy, A.1
  • 66
    • 0025990655 scopus 로고
    • Microwave-accelerated fixation and lacZ activity staining of testicular cells in transgenic mice
    • Murti, J.R. and Schimenti, J.C. (1991) Microwave-accelerated fixation and lacZ activity staining of testicular cells in transgenic mice. Anal. Biochem., 198, 92-96.
    • (1991) Anal. Biochem. , vol.198 , pp. 92-96
    • Murti, J.R.1    Schimenti, J.C.2
  • 67
    • 0033304673 scopus 로고    scopus 로고
    • Tissue-specific, hormonal, and developmental regulation of SCC-LacZ expression in transgenic mice leads to adrenocortical zone characterization
    • Hu, M.C., Chou, S.J., Huang, Y.Y., Hsu, N.C., Li, H. and Chung, B.C. (1999) Tissue-specific, hormonal, and developmental regulation of SCC-LacZ expression in transgenic mice leads to adrenocortical zone characterization. Endocrinology, 140, 5609-5618.
    • (1999) Endocrinology , vol.140 , pp. 5609-5618
    • Hu, M.C.1    Chou, S.J.2    Huang, Y.Y.3    Hsu, N.C.4    Li, H.5    Chung, B.C.6
  • 68
    • 0034967992 scopus 로고    scopus 로고
    • Smad5 is required for mouse primordial germ cell development
    • Chang, H. and Matzuk, M.M. (2001) Smad5 is required for mouse primordial germ cell development. Mech. Dev., 104, 61-67.
    • (2001) Mech. Dev. , vol.104 , pp. 61-67
    • Chang, H.1    Matzuk, M.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.