메뉴 건너뛰기




Volumn 40, Issue 8, 2008, Pages 963-970

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; RIBOSOME PROTEIN; RIBOSOME PROTEIN S19; RIBOSOME PROTEIN S20; STEM CELL FACTOR;

EID: 48249117726     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.188     Document Type: Article
Times cited : (309)

References (50)
  • 1
    • 0006381984 scopus 로고
    • The Minute reaction in the development of Drosophila melanogaster
    • Schultz, J. The Minute reaction in the development of Drosophila melanogaster. Genetics 14, 366-419 (1929).
    • (1929) Genetics , vol.14 , pp. 366-419
    • Schultz, J.1
  • 2
    • 0031613939 scopus 로고    scopus 로고
    • The minute genes in Drosophila and their molecular functions
    • Lambertsson, A. The minute genes in Drosophila and their molecular functions. Adv. Genet. 38, 69-134 (1998).
    • (1998) Adv. Genet , vol.38 , pp. 69-134
    • Lambertsson, A.1
  • 3
    • 4544271480 scopus 로고    scopus 로고
    • Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute
    • Oliver, E.R., Saunders, T.L., Tarle, S.A. & Glaser, T. Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute. Development 131, 3907-3920 (2004).
    • (2004) Development , vol.131 , pp. 3907-3920
    • Oliver, E.R.1    Saunders, T.L.2    Tarle, S.A.3    Glaser, T.4
  • 4
    • 0032907438 scopus 로고    scopus 로고
    • The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
    • Draptchinskaia, N. et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat. Genet. 21, 169-175 (1999).
    • (1999) Nat. Genet , vol.21 , pp. 169-175
    • Draptchinskaia, N.1
  • 5
    • 34848913619 scopus 로고    scopus 로고
    • Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
    • Cmejla, R., Cmejlova, J., Handrkova, H., Petrak, J. & Pospisilova, D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum. Mutat. 28, 1178-1182 (2007).
    • (2007) Hum. Mutat , vol.28 , pp. 1178-1182
    • Cmejla, R.1    Cmejlova, J.2    Handrkova, H.3    Petrak, J.4    Pospisilova, D.5
  • 6
    • 33845303558 scopus 로고    scopus 로고
    • Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
    • Gazda, H.T. et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 79, 1110-1118 (2006).
    • (2006) Am. J. Hum. Genet , vol.79 , pp. 1110-1118
    • Gazda, H.T.1
  • 7
    • 39049136491 scopus 로고    scopus 로고
    • Diamond blackfan anemia: A disorder of red blood cell development
    • Ellis, S.R. & Lipton, J.M. Diamond blackfan anemia: a disorder of red blood cell development. Curr. Top. Dev. Biol. 82, 217-241 (2008).
    • (2008) Curr. Top. Dev. Biol , vol.82 , pp. 217-241
    • Ellis, S.R.1    Lipton, J.M.2
  • 8
    • 33748756680 scopus 로고    scopus 로고
    • Recent insights into the pathogenesis of Diamond-Blackfan anaemia
    • Gazda, H.T. & Sieff, C.A. Recent insights into the pathogenesis of Diamond-Blackfan anaemia. Br. J. Haematol. 135, 149-157 (2006).
    • (2006) Br. J. Haematol , vol.135 , pp. 149-157
    • Gazda, H.T.1    Sieff, C.A.2
  • 9
    • 34147144995 scopus 로고    scopus 로고
    • Diamond-Blackfan anemia: Erythropoiesis lost in translation
    • Flygare, J. & Karlsson, S. Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood 109, 3152-3154 (2007).
    • (2007) Blood , vol.109 , pp. 3152-3154
    • Flygare, J.1    Karlsson, S.2
  • 10
    • 33644690901 scopus 로고    scopus 로고
    • Specific role for yeast homologs of the Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis
    • Leger-Silvestre, I. et al. Specific role for yeast homologs of the Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis. J. Biol. Chem. 280, 38177-38185 (2005).
    • (2005) J. Biol. Chem , vol.280 , pp. 38177-38185
    • Leger-Silvestre, I.1
  • 11
    • 0034674714 scopus 로고    scopus 로고
    • Proliferation, but not growth, blocked by conditional deletion of 40S ribosomal protein S6
    • Volarevic, S. et al. Proliferation, but not growth, blocked by conditional deletion of 40S ribosomal protein S6. Science 288, 2045-2047 (2000).
    • (2000) Science , vol.288 , pp. 2045-2047
    • Volarevic, S.1
  • 12
    • 34547742640 scopus 로고    scopus 로고
    • Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome
    • Angelini, M. et al. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum. Mol. Genet. 16, 1720-1727 (2007).
    • (2007) Hum. Mol. Genet , vol.16 , pp. 1720-1727
    • Angelini, M.1
  • 13
    • 0016613341 scopus 로고
    • Minutes: Mutants of Drosophila autonomously affecting cell division rate
    • Morata, G. & Ripoll, P. Minutes: mutants of Drosophila autonomously affecting cell division rate. Dev. Biol. 42, 211-221 (1975).
    • (1975) Dev. Biol , vol.42 , pp. 211-221
    • Morata, G.1    Ripoll, P.2
  • 15
    • 0034425715 scopus 로고    scopus 로고
    • Genome-wide, large-scale production of mutant mice by ENU mutagenesis
    • Hrabe de Angelis, M.H. et al. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat. Genet. 25, 444-447 (2000).
    • (2000) Nat. Genet , vol.25 , pp. 444-447
    • Hrabe de Angelis, M.H.1
  • 16
    • 0037439150 scopus 로고    scopus 로고
    • Genetics of dark skin in mice
    • Fitch, K.R. et al. Genetics of dark skin in mice. Genes Dev. 17, 214-228 (2003).
    • (2003) Genes Dev , vol.17 , pp. 214-228
    • Fitch, K.R.1
  • 18
    • 0031442453 scopus 로고    scopus 로고
    • Activation of the receptor tyrosine kinase Kit is required for the proliferation of melanoblasts in the mouse embryo
    • Mackenzie, M.A., Jordan, S.A., Budd, P.S. & Jackson, I.J. Activation of the receptor tyrosine kinase Kit is required for the proliferation of melanoblasts in the mouse embryo. Dev. Biol. 192, 99-107 (1997).
    • (1997) Dev. Biol , vol.192 , pp. 99-107
    • Mackenzie, M.A.1    Jordan, S.A.2    Budd, P.S.3    Jackson, I.J.4
  • 19
    • 0021248968 scopus 로고
    • Histochemical survey of the distribution of the epidermal melanoblasts and melanocytes in the mouse during fetal and postnatal periods
    • Hirobe, T. Histochemical survey of the distribution of the epidermal melanoblasts and melanocytes in the mouse during fetal and postnatal periods. Anat. Rec. 208, 589-594 (1984).
    • (1984) Anat. Rec , vol.208 , pp. 589-594
    • Hirobe, T.1
  • 20
    • 0015886792 scopus 로고
    • The migratory pathway of neural crest cells into the skin of mouse embryos
    • Mayer, T.C. The migratory pathway of neural crest cells into the skin of mouse embryos. Dev. Biol. 34, 39-46 (1973).
    • (1973) Dev. Biol , vol.34 , pp. 39-46
    • Mayer, T.C.1
  • 21
    • 0028957223 scopus 로고
    • Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse
    • Cable, J., Jackson, I.J. & Steel, K.P. Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse. Mech. Dev. 50, 139-150 (1995).
    • (1995) Mech. Dev , vol.50 , pp. 139-150
    • Cable, J.1    Jackson, I.J.2    Steel, K.P.3
  • 22
    • 0026446976 scopus 로고
    • TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor
    • Steel, K.P., Davidson, D.R. & Jackson, I.J. TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development 115, 1111-1119 (1992).
    • (1992) Development , vol.115 , pp. 1111-1119
    • Steel, K.P.1    Davidson, D.R.2    Jackson, I.J.3
  • 24
    • 2942582215 scopus 로고    scopus 로고
    • A keratin K5Cre transgenic line appropriate for tissue-specific or generalized Cre-mediated recombination
    • Ramirez, A. et al. A keratin K5Cre transgenic line appropriate for tissue-specific or generalized Cre-mediated recombination. Genesis 39, 52-57 (2004).
    • (2004) Genesis , vol.39 , pp. 52-57
    • Ramirez, A.1
  • 26
    • 12844262844 scopus 로고    scopus 로고
    • Role of keratinocyte-derived factors involved in regulating the proliferation and differentiation of mammalian epidermal melanocytes
    • Hirobe, T. Role of keratinocyte-derived factors involved in regulating the proliferation and differentiation of mammalian epidermal melanocytes. Pigment Cell Res. 18, 2-12 (2005).
    • (2005) Pigment Cell Res , vol.18 , pp. 2-12
    • Hirobe, T.1
  • 27
    • 0031686689 scopus 로고    scopus 로고
    • Transgene expression of steel factor in the basal layer of epidermis promotes survival, proliferation, differentiation and migration of melanocyte precursors
    • Kunisada, T. et al. Transgene expression of steel factor in the basal layer of epidermis promotes survival, proliferation, differentiation and migration of melanocyte precursors. Development 125, 2915-2923 (1998).
    • (1998) Development , vol.125 , pp. 2915-2923
    • Kunisada, T.1
  • 28
    • 0025772979 scopus 로고
    • In utero manipulation of coat color formation by a monoclonal anti-c-kit antibody: Two distinct waves of c-kit-dependency during melanocyte development
    • Nishikawa, S. et al. In utero manipulation of coat color formation by a monoclonal anti-c-kit antibody: two distinct waves of c-kit-dependency during melanocyte development. EMBO J. 10, 2111-2118 (1991).
    • (1991) EMBO J , vol.10 , pp. 2111-2118
    • Nishikawa, S.1
  • 29
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: A practical and powerful approach to multiple testing
    • Benjamini, Y. & Hochberg, Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J. Roy. Statist. Soc. Ser. B. Methodological 57, 289-300 (1995).
    • (1995) J. Roy. Statist. Soc. Ser. B. Methodological , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 30
    • 0036863624 scopus 로고    scopus 로고
    • REDD1, a developmentally regulated transcriptional target of p63 and p53, links p63 to regulation of reactive oxygen species
    • Ellisen, L.W. et al. REDD1, a developmentally regulated transcriptional target of p63 and p53, links p63 to regulation of reactive oxygen species. Mol. Cell 10, 995-1005 (2002).
    • (2002) Mol. Cell , vol.10 , pp. 995-1005
    • Ellisen, L.W.1
  • 31
    • 0027459198 scopus 로고
    • mdm2 expression is induced by wild type p53 activity
    • Barak, Y., Juven, T., Haffner, R. & Oren, M. mdm2 expression is induced by wild type p53 activity. EMBO J. 12, 461-468 (1993).
    • (1993) EMBO J , vol.12 , pp. 461-468
    • Barak, Y.1    Juven, T.2    Haffner, R.3    Oren, M.4
  • 32
    • 33845196230 scopus 로고    scopus 로고
    • Ribosomal protein S6 gene haploinsufficiency is associated with activation of a p53-dependent checkpoint during gastrulation
    • Panic, L. et al. Ribosomal protein S6 gene haploinsufficiency is associated with activation of a p53-dependent checkpoint during gastrulation. Mol. Cell. Biol. 26, 8880-8891 (2006).
    • (2006) Mol. Cell. Biol , vol.26 , pp. 8880-8891
    • Panic, L.1
  • 33
    • 29144438951 scopus 로고    scopus 로고
    • Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response
    • Sulic, S. et al. Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response. Genes Dev. 19, 3070-3082 (2005).
    • (2005) Genes Dev , vol.19 , pp. 3070-3082
    • Sulic, S.1
  • 34
    • 0035979247 scopus 로고    scopus 로고
    • Growth inhibition and DNA damage induced by Cre recombinase in mammalian cells
    • Loonstra, A. et al. Growth inhibition and DNA damage induced by Cre recombinase in mammalian cells. Proc. Natl. Acad. Sci. USA 98, 9209-9214 (2001).
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 9209-9214
    • Loonstra, A.1
  • 35
    • 33846198396 scopus 로고    scopus 로고
    • Homozygous K5Cre transgenic mice have wavy hair and accelerated malignant progression in a murine model of skin carcinogenesis
    • Chan, E.L. et al. Homozygous K5Cre transgenic mice have wavy hair and accelerated malignant progression in a murine model of skin carcinogenesis. Mol. Carcinog. 46, 49-59 (2007).
    • (2007) Mol. Carcinog , vol.46 , pp. 49-59
    • Chan, E.L.1
  • 36
    • 13944278507 scopus 로고    scopus 로고
    • The p53QS transactivation-deficient mutant shows stress-specific apoptotic activity and induces embryonic lethality
    • Johnson, T.M., Hammond, E.M., Giaccia, A. & Attardi, L.D. The p53QS transactivation-deficient mutant shows stress-specific apoptotic activity and induces embryonic lethality. Nat. Genet. 37, 145-152 (2005).
    • (2005) Nat. Genet , vol.37 , pp. 145-152
    • Johnson, T.M.1    Hammond, E.M.2    Giaccia, A.3    Attardi, L.D.4
  • 37
    • 0028118111 scopus 로고
    • Tumor spectrum analysis in p53-mutant mice
    • Jacks, T. et al. Tumor spectrum analysis in p53-mutant mice. Curr. Biol. 4, 1-7 (1994).
    • (1994) Curr. Biol , vol.4 , pp. 1-7
    • Jacks, T.1
  • 38
    • 40949134187 scopus 로고    scopus 로고
    • RPS19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia
    • Miyake, K. et al. RPS19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia. Stem Cells 26, 323-329 (2008).
    • (2008) Stem Cells , vol.26 , pp. 323-329
    • Miyake, K.1
  • 39
    • 34250007142 scopus 로고    scopus 로고
    • Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age
    • Rossi, D.J. et al. Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age. Nature 447, 725-729 (2007).
    • (2007) Nature , vol.447 , pp. 725-729
    • Rossi, D.J.1
  • 40
    • 19344366193 scopus 로고    scopus 로고
    • Many ribosomal protein genes are cancer genes in zebrafish
    • Amsterdam, A. et al. Many ribosomal protein genes are cancer genes in zebrafish. PLoS Biol. 2, e139 (2004).
    • (2004) PLoS Biol , vol.2
    • Amsterdam, A.1
  • 42
    • 33847422145 scopus 로고    scopus 로고
    • Central role of p53 in the suntan response and pathologic hyperpigmentation
    • Cui, R. et al. Central role of p53 in the suntan response and pathologic hyperpigmentation. Cell 128, 853-864 (2007).
    • (2007) Cell , vol.128 , pp. 853-864
    • Cui, R.1
  • 43
    • 14244269885 scopus 로고    scopus 로고
    • Preservation of eumelanin hair pigmentation in proopiomelanocortin-deficient mice on a nonagouti (a/a) genetic background
    • Slominski, A. et al. Preservation of eumelanin hair pigmentation in proopiomelanocortin-deficient mice on a nonagouti (a/a) genetic background. Endocrinology 146, 1245-1253 (2005).
    • (2005) Endocrinology , vol.146 , pp. 1245-1253
    • Slominski, A.1
  • 44
    • 0029032633 scopus 로고
    • p53 polymorphisms and haplotypes in different ethnic groups
    • Sjalander, A., Birgander, R., Kivela, A. & Beckman, G. p53 polymorphisms and haplotypes in different ethnic groups. Hum. Hered. 45, 144-149 (1995).
    • (1995) Hum. Hered , vol.45 , pp. 144-149
    • Sjalander, A.1    Birgander, R.2    Kivela, A.3    Beckman, G.4
  • 45
    • 0028339379 scopus 로고
    • Is p53 polymorphism maintained by natural selection?
    • Beckman, G. et al. Is p53 polymorphism maintained by natural selection? Hum. Hered. 44, 266-270 (1994).
    • (1994) Hum. Hered , vol.44 , pp. 266-270
    • Beckman, G.1
  • 46
    • 38549151279 scopus 로고    scopus 로고
    • The ribosomal protein genes and Minute loci of Drosophila melanogaster
    • Marygold, S.J. et al. The ribosomal protein genes and Minute loci of Drosophila melanogaster. Genome Biol. 8, R216 (2007).
    • (2007) Genome Biol , vol.8
    • Marygold, S.J.1
  • 47
    • 33645282549 scopus 로고    scopus 로고
    • Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia
    • Matsson, H. et al. Erythropoiesis in the Rps19 disrupted mouse: analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. Blood Cells Mol. Dis. 36, 259-264 (2006).
    • (2006) Blood Cells Mol. Dis , vol.36 , pp. 259-264
    • Matsson, H.1
  • 48
    • 1942486326 scopus 로고    scopus 로고
    • Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation
    • Matsson, H. et al. Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol. Cell. Biol. 24, 4032-4037 (2004).
    • (2004) Mol. Cell. Biol , vol.24 , pp. 4032-4037
    • Matsson, H.1
  • 49
    • 0037250168 scopus 로고    scopus 로고
    • The UCSC Genome Browser Database
    • Karolchik, D. et al. The UCSC Genome Browser Database. Nucleic Acids Res. 31, 51-54 (2003).
    • (2003) Nucleic Acids Res , vol.31 , pp. 51-54
    • Karolchik, D.1
  • 50
    • 33847302564 scopus 로고    scopus 로고
    • Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space
    • Strehlow, A.N., Li, J.Z. & Myers, R.M. Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space. Hum. Mol. Genet. 16, 391-409 (2007).
    • (2007) Hum. Mol. Genet , vol.16 , pp. 391-409
    • Strehlow, A.N.1    Li, J.Z.2    Myers, R.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.