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Volumn 1842, Issue 6, 2014, Pages 758-764

Human diseases of the SSU processome

Author keywords

EMG1; HUTP4 Cirhin; Ribosomopathy; SSU processome; UTP14

Indexed keywords

CIRHIN; RIBONUCLEOPROTEIN; RNA 18S; RNA 28S; SMALL NUCLEOLAR RNA; SMALL SUBUNIT PROCESSOME; SMALL SUBUNIT RIBOSOMAL RNA; UNCLASSIFIED DRUG; URIDINE TRIPHOSPHATE; RIBOSOME PROTEIN; RNA PRECURSOR;

EID: 84896904569     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2013.11.004     Document Type: Article
Times cited : (37)

References (58)
  • 2
    • 0030656387 scopus 로고    scopus 로고
    • Sno storm in the nucleolus: new roles for myriad small RNPs
    • Smith C.M., Steitz J.A. Sno storm in the nucleolus: new roles for myriad small RNPs. Cell 1997, 89:669-672.
    • (1997) Cell , vol.89 , pp. 669-672
    • Smith, C.M.1    Steitz, J.A.2
  • 6
    • 34547936557 scopus 로고    scopus 로고
    • Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells
    • Prieto J.L., McStay B. Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells. Genes Dev. 2007, 21:2041-2054.
    • (2007) Genes Dev. , vol.21 , pp. 2041-2054
    • Prieto, J.L.1    McStay, B.2
  • 9
    • 77951431225 scopus 로고    scopus 로고
    • Ribosomopathies: human disorders of ribosome dysfunction
    • Narla A., Ebert B.L. Ribosomopathies: human disorders of ribosome dysfunction. Blood 2010, 115:3196-3205.
    • (2010) Blood , vol.115 , pp. 3196-3205
    • Narla, A.1    Ebert, B.L.2
  • 11
    • 36549052195 scopus 로고    scopus 로고
    • North American Indian Childhood Cirrhosis (NAIC)
    • Richter A., Mitchell G.A., Rasquin A. North American Indian Childhood Cirrhosis (NAIC). Med. Sci. 2007, 23:1002-1007.
    • (2007) Med. Sci. , vol.23 , pp. 1002-1007
    • Richter, A.1    Mitchell, G.A.2    Rasquin, A.3
  • 15
    • 70349786366 scopus 로고    scopus 로고
    • Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1
    • Yu B., Mitchell G.A., Richter A. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. Exp. Cell Res. 2009, 315:3086-3098.
    • (2009) Exp. Cell Res. , vol.315 , pp. 3086-3098
    • Yu, B.1    Mitchell, G.A.2    Richter, A.3
  • 16
    • 77955813132 scopus 로고    scopus 로고
    • The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis
    • Freed E.F., Baserga S.J. The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. Nucleic Acids Res. 2010, 38:4798-4806.
    • (2010) Nucleic Acids Res. , vol.38 , pp. 4798-4806
    • Freed, E.F.1    Baserga, S.J.2
  • 18
    • 34547163927 scopus 로고    scopus 로고
    • The 90S preribosome is a multimodular structure that is assembled through a hierarchical mechanism
    • Perez-Fernandez J., Roman A., De Las Rivas J., Bustelo X.R., Dosil M. The 90S preribosome is a multimodular structure that is assembled through a hierarchical mechanism. Mol. Cell. Biol. 2007, 27:5414-5429.
    • (2007) Mol. Cell. Biol. , vol.27 , pp. 5414-5429
    • Perez-Fernandez, J.1    Roman, A.2    De Las Rivas, J.3    Bustelo, X.R.4    Dosil, M.5
  • 19
    • 84866148204 scopus 로고    scopus 로고
    • NOL11, implicated in the pathogenesis of North American Indian Childhood Cirrhosis, is required for pre-rRNA transcription and processing
    • Freed E.F., Prieto J.L., McCann K.L., McStay B., Baserga S.J. NOL11, implicated in the pathogenesis of North American Indian Childhood Cirrhosis, is required for pre-rRNA transcription and processing. PLoS Genet. 2012, 8:e1002892.
    • (2012) PLoS Genet. , vol.8
    • Freed, E.F.1    Prieto, J.L.2    McCann, K.L.3    McStay, B.4    Baserga, S.J.5
  • 21
    • 27744436483 scopus 로고    scopus 로고
    • Nucleolar localization of cirhin, the protein mutated in North American Indian Childhood Cirrhosis
    • Yu B., Mitchell G.A., Richter A. Nucleolar localization of cirhin, the protein mutated in North American Indian Childhood Cirrhosis. Exp. Cell Res. 2005, 311:218-228.
    • (2005) Exp. Cell Res. , vol.311 , pp. 218-228
    • Yu, B.1    Mitchell, G.A.2    Richter, A.3
  • 22
    • 63749125711 scopus 로고    scopus 로고
    • Spermatogenesis associated retrogenes are expressed in the human ovary and ovarian cancers
    • Rohozinski J., Anderson M.L., Broaddus R.E., Edwards C.L., Bishop C.E. Spermatogenesis associated retrogenes are expressed in the human ovary and ovarian cancers. PloS ONE 2009, 4:e5064.
    • (2009) PloS ONE , vol.4
    • Rohozinski, J.1    Anderson, M.L.2    Broaddus, R.E.3    Edwards, C.L.4    Bishop, C.E.5
  • 23
    • 34047113849 scopus 로고    scopus 로고
    • Utp14b: a unique retrogene within a gene that has acquired multiple promoters and a specific function in spermatogenesis
    • Zhao M., Rohozinski J., Sharma M., Ju J., Braun R.E., Bishop C.E., Meistrich M.L. Utp14b: a unique retrogene within a gene that has acquired multiple promoters and a specific function in spermatogenesis. Dev. Biol. 2007, 304:848-859.
    • (2007) Dev. Biol. , vol.304 , pp. 848-859
    • Zhao, M.1    Rohozinski, J.2    Sharma, M.3    Ju, J.4    Braun, R.E.5    Bishop, C.E.6    Meistrich, M.L.7
  • 24
    • 84878034404 scopus 로고    scopus 로고
    • The rRNA methyltransferase Bud23 shows functional interaction with components of the SSU processome and RNase MRP
    • Sardana R., White J.P., Johnson A.W. The rRNA methyltransferase Bud23 shows functional interaction with components of the SSU processome and RNase MRP. RNA 2013, 19:828-840.
    • (2013) RNA , vol.19 , pp. 828-840
    • Sardana, R.1    White, J.P.2    Johnson, A.W.3
  • 26
    • 4143115756 scopus 로고    scopus 로고
    • The mouse juvenile spermatogonial depletion (jsd) phenotype is due to a mutation in the X-derived retrogene, mUtp14b
    • Rohozinski J., Bishop C.E. The mouse juvenile spermatogonial depletion (jsd) phenotype is due to a mutation in the X-derived retrogene, mUtp14b. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:11695-11700.
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 11695-11700
    • Rohozinski, J.1    Bishop, C.E.2
  • 27
    • 0023769517 scopus 로고
    • Juvenile spermatogonial depletion (jsd): a genetic defect of germ cell proliferation of male mice
    • Beamer W.G., Cunliffe-Beamer T.L., Shultz K.L., Langley S.H., Roderick T.H. Juvenile spermatogonial depletion (jsd): a genetic defect of germ cell proliferation of male mice. Biol. Reprod. 1988, 38:899-908.
    • (1988) Biol. Reprod. , vol.38 , pp. 899-908
    • Beamer, W.G.1    Cunliffe-Beamer, T.L.2    Shultz, K.L.3    Langley, S.H.4    Roderick, T.H.5
  • 28
    • 33745119083 scopus 로고    scopus 로고
    • Spermatogonial differentiation in juvenile spermatogonial depletion (jsd) mice with androgen receptor or follicle-stimulating hormone mutations
    • Shetty G., Weng C.C., Porter K.L., Zhang Z., Pakarinen P., Kumar T.R., Meistrich M.L. Spermatogonial differentiation in juvenile spermatogonial depletion (jsd) mice with androgen receptor or follicle-stimulating hormone mutations. Endocrinology 2006, 147:3563-3570.
    • (2006) Endocrinology , vol.147 , pp. 3563-3570
    • Shetty, G.1    Weng, C.C.2    Porter, K.L.3    Zhang, Z.4    Pakarinen, P.5    Kumar, T.R.6    Meistrich, M.L.7
  • 29
    • 1842509200 scopus 로고    scopus 로고
    • Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle
    • Dixon J., Dixon M.J. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Dev. Dyn. 2004, 229:907-914.
    • (2004) Dev. Dyn. , vol.229 , pp. 907-914
    • Dixon, J.1    Dixon, M.J.2
  • 31
    • 33645049053 scopus 로고    scopus 로고
    • UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man
    • Rohozinski J., Lamb D.J., Bishop C.E. UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man. Biol. Reprod. 2006, 74:644-651.
    • (2006) Biol. Reprod. , vol.74 , pp. 644-651
    • Rohozinski, J.1    Lamb, D.J.2    Bishop, C.E.3
  • 32
    • 78951487623 scopus 로고    scopus 로고
    • A small ribosomal subunit (SSU) processome component, the human U3 protein 14A (hUTP14A) binds p53 and promotes p53 degradation
    • Hu L., Wang J., Liu Y., Zhang Y., Zhang L., Kong R., Zheng Z., Du X., Ke Y. A small ribosomal subunit (SSU) processome component, the human U3 protein 14A (hUTP14A) binds p53 and promotes p53 degradation. J. Biol. Chem. 2011, 286:3119-3128.
    • (2011) J. Biol. Chem. , vol.286 , pp. 3119-3128
    • Hu, L.1    Wang, J.2    Liu, Y.3    Zhang, Y.4    Zhang, L.5    Kong, R.6    Zheng, Z.7    Du, X.8    Ke, Y.9
  • 33
    • 84858161043 scopus 로고    scopus 로고
    • Does expression of the retrogene UTP14c in the ovary pre-dispose women to ovarian cancer?
    • Rohozinski J., Edwards C.L., Anderson M.L. Does expression of the retrogene UTP14c in the ovary pre-dispose women to ovarian cancer?. Med. Hypotheses 2012, 78:446-449.
    • (2012) Med. Hypotheses , vol.78 , pp. 446-449
    • Rohozinski, J.1    Edwards, C.L.2    Anderson, M.L.3
  • 35
    • 73949101143 scopus 로고    scopus 로고
    • Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect
    • De Souza R.A. Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect. Clin. Genet. 2010, 77:116-118.
    • (2010) Clin. Genet. , vol.77 , pp. 116-118
    • De Souza, R.A.1
  • 36
    • 0017172068 scopus 로고
    • Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs
    • Bowen P., Conradi G.J. Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig. Artic. Ser. 1976, 12:101-108.
    • (1976) Birth Defects Orig. Artic. Ser. , vol.12 , pp. 101-108
    • Bowen, P.1    Conradi, G.J.2
  • 37
    • 0018601352 scopus 로고
    • The Bowen-Conradi syndrome - a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities
    • Hunter A.G., Woerner S.J., Montalvo-Hicks L.D., Fowlow S.B., Haslam R.H., Metcalf P.J., Lowry R.B. The Bowen-Conradi syndrome - a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities. Am. J. Med. Genet. 1979, 3:269-279.
    • (1979) Am. J. Med. Genet. , vol.3 , pp. 269-279
    • Hunter, A.G.1    Woerner, S.J.2    Montalvo-Hicks, L.D.3    Fowlow, S.B.4    Haslam, R.H.5    Metcalf, P.J.6    Lowry, R.B.7
  • 41
  • 43
    • 79953683436 scopus 로고    scopus 로고
    • Structural insight into the functional mechanism of Nep1/Emg1 N1-specific pseudouridine methyltransferase in ribosome biogenesis
    • Thomas S.R., Keller C.A., Szyk A., Cannon J.R., Laronde-Leblanc N.A. Structural insight into the functional mechanism of Nep1/Emg1 N1-specific pseudouridine methyltransferase in ribosome biogenesis. Nucleic Acids Res. 2011, 39:2445-2457.
    • (2011) Nucleic Acids Res. , vol.39 , pp. 2445-2457
    • Thomas, S.R.1    Keller, C.A.2    Szyk, A.3    Cannon, J.R.4    Laronde-Leblanc, N.A.5
  • 44
    • 0036122849 scopus 로고    scopus 로고
    • Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis
    • Eschrich D., Buchhaupt M., Kotter P., Entian K.D. Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis. Curr. Genet. 2002, 40:326-338.
    • (2002) Curr. Genet. , vol.40 , pp. 326-338
    • Eschrich, D.1    Buchhaupt, M.2    Kotter, P.3    Entian, K.D.4
  • 47
    • 33747617329 scopus 로고    scopus 로고
    • Genetic evidence for 18S rRNA binding and an Rps19p assembly function of yeast nucleolar protein Nep1p
    • Buchhaupt M., Meyer B., Kotter P., Entian K.D. Genetic evidence for 18S rRNA binding and an Rps19p assembly function of yeast nucleolar protein Nep1p. Mol. Genet. Genomics 2006, 276:273-284.
    • (2006) Mol. Genet. Genomics , vol.276 , pp. 273-284
    • Buchhaupt, M.1    Meyer, B.2    Kotter, P.3    Entian, K.D.4
  • 50
    • 34249090258 scopus 로고    scopus 로고
    • Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients
    • Piddubnyak V., Rigou P., Michel L., Rain J.C., Geneste O., Wolkenstein P., Vidaud D., Hickman J.A., Mauviel A., Poyet J.L. Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. Cell Death Differ. 2007, 14:1222-1233.
    • (2007) Cell Death Differ. , vol.14 , pp. 1222-1233
    • Piddubnyak, V.1    Rigou, P.2    Michel, L.3    Rain, J.C.4    Geneste, O.5    Wolkenstein, P.6    Vidaud, D.7    Hickman, J.A.8    Mauviel, A.9    Poyet, J.L.10
  • 52
    • 77956567383 scopus 로고    scopus 로고
    • Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice
    • Chi Z.L., Yasumoto F., Sergeev Y., Minami M., Obazawa M., Kimura I., Takada Y., Iwata T. Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice. Hum. Mol.Genet. 2010, 19:3806-3815.
    • (2010) Hum. Mol.Genet. , vol.19 , pp. 3806-3815
    • Chi, Z.L.1    Yasumoto, F.2    Sergeev, Y.3    Minami, M.4    Obazawa, M.5    Kimura, I.6    Takada, Y.7    Iwata, T.8
  • 53
    • 48249142323 scopus 로고    scopus 로고
    • The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway
    • Skarie J.M., Link B.A. The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway. Hum. Mol.Genet. 2008, 17:2474-2485.
    • (2008) Hum. Mol.Genet. , vol.17 , pp. 2474-2485
    • Skarie, J.M.1    Link, B.A.2
  • 55
  • 56
    • 0035736207 scopus 로고    scopus 로고
    • Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome
    • Doll A., Grzeschik K.H. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Cytogenet. Cell Genet. 2001, 95:20-27.
    • (2001) Cytogenet. Cell Genet. , vol.95 , pp. 20-27
    • Doll, A.1    Grzeschik, K.H.2
  • 57
    • 84882781969 scopus 로고    scopus 로고
    • Genetics. Mysterious ribosomopathies
    • McCann K.L., Baserga S.J. Genetics. Mysterious ribosomopathies. Science 2013, 341:849-850.
    • (2013) Science , vol.341 , pp. 849-850
    • McCann, K.L.1    Baserga, S.J.2
  • 58
    • 84861418314 scopus 로고    scopus 로고
    • Specialized ribosomes: a new frontier in gene regulation and organismal biology
    • Xue S., Barna M. Specialized ribosomes: a new frontier in gene regulation and organismal biology. Nat. Rev. Mol. Cell Biol. 2012, 13:355-369.
    • (2012) Nat. Rev. Mol. Cell Biol. , vol.13 , pp. 355-369
    • Xue, S.1    Barna, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.