메뉴 건너뛰기




Volumn 30, Issue 6, 2014, Pages 220-229

Tissue specificity in DNA repair: Lessons from trinucleotide repeat instability

Author keywords

Base excision repair; DNA repair; Genome stability; Nucleotide excision repair; Single strand break repair; Tissue specific DNA repair; Trinucleotide repeat instability

Indexed keywords

DNA; DNA METHYLTRANSFERASE 1;

EID: 84901407827     PISSN: 01689525     EISSN: 13624555     Source Type: Journal    
DOI: 10.1016/j.tig.2014.04.005     Document Type: Review
Times cited : (34)

References (108)
  • 1
    • 0027278557 scopus 로고
    • Instability and decay of the primary structure of DNA
    • Lindahl T. Instability and decay of the primary structure of DNA. Nature 1993, 362:709-715.
    • (1993) Nature , vol.362 , pp. 709-715
    • Lindahl, T.1
  • 2
    • 84880607469 scopus 로고    scopus 로고
    • DNA damage response in peripheral nervous system: coping with cancer therapy-induced DNA lesions
    • Englander E.W. DNA damage response in peripheral nervous system: coping with cancer therapy-induced DNA lesions. DNA Repair (Amst.) 2013, 12:685-690.
    • (2013) DNA Repair (Amst.) , vol.12 , pp. 685-690
    • Englander, E.W.1
  • 3
    • 84880586724 scopus 로고    scopus 로고
    • DNA repair mechanisms in dividing and non-dividing cells
    • Iyama T., Wilson D.M. DNA repair mechanisms in dividing and non-dividing cells. DNA Repair (Amst.) 2013, 12:620-636.
    • (2013) DNA Repair (Amst.) , vol.12 , pp. 620-636
    • Iyama, T.1    Wilson, D.M.2
  • 4
    • 84882837534 scopus 로고    scopus 로고
    • Signatures of mutational processes in human cancer
    • Alexandrov L.B., et al. Signatures of mutational processes in human cancer. Nature 2013, 500:415-421.
    • (2013) Nature , vol.500 , pp. 415-421
    • Alexandrov, L.B.1
  • 5
    • 84886867688 scopus 로고    scopus 로고
    • Maintaining genome stability in the nervous system
    • McKinnon P.J. Maintaining genome stability in the nervous system. Nat. Neurosci. 2013, 16:1523-1529.
    • (2013) Nat. Neurosci. , vol.16 , pp. 1523-1529
    • McKinnon, P.J.1
  • 6
    • 0025779567 scopus 로고
    • Spectra of spontaneous and mutagen-induced mutations in the lacI gene in transgenic mice
    • Kohler S.W., et al. Spectra of spontaneous and mutagen-induced mutations in the lacI gene in transgenic mice. Proc. Natl. Acad. Sci. U.S.A. 1991, 88:7958-7962.
    • (1991) Proc. Natl. Acad. Sci. U.S.A. , vol.88 , pp. 7958-7962
    • Kohler, S.W.1
  • 7
    • 0037133550 scopus 로고    scopus 로고
    • Embryonic stem cells and somatic cells differ in mutation frequency and type
    • Cervantes R.B., et al. Embryonic stem cells and somatic cells differ in mutation frequency and type. Proc. Natl. Acad. Sci. U.S.A. 2002, 99:3586-3590.
    • (2002) Proc. Natl. Acad. Sci. U.S.A. , vol.99 , pp. 3586-3590
    • Cervantes, R.B.1
  • 8
    • 0033961277 scopus 로고    scopus 로고
    • Terminally differentiated human neurons repair transcribed genes but display attenuated global DNA repair and modulation of repair gene expression
    • Nouspikel T., Hanawalt P.C. Terminally differentiated human neurons repair transcribed genes but display attenuated global DNA repair and modulation of repair gene expression. Mol. Cell. Biol. 2000, 20:1562-1570.
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 1562-1570
    • Nouspikel, T.1    Hanawalt, P.C.2
  • 9
    • 33750821636 scopus 로고    scopus 로고
    • Impaired nucleotide excision repair upon macrophage differentiation is corrected by E1 ubiquitin-activating enzyme
    • Nouspikel T., Hanawalt P.C. Impaired nucleotide excision repair upon macrophage differentiation is corrected by E1 ubiquitin-activating enzyme. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:16188-16193.
    • (2006) Proc. Natl. Acad. Sci. U.S.A. , vol.103 , pp. 16188-16193
    • Nouspikel, T.1    Hanawalt, P.C.2
  • 10
    • 78549278708 scopus 로고    scopus 로고
    • Triggers for genomic rearrangements: insights into genomic, cellular and environmental influences
    • Mani R.S., Chinnaiyan A.M. Triggers for genomic rearrangements: insights into genomic, cellular and environmental influences. Nat. Rev. Genet. 2010, 11:819-829.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 819-829
    • Mani, R.S.1    Chinnaiyan, A.M.2
  • 11
    • 0036904776 scopus 로고    scopus 로고
    • Base excision repair capacity in mitochondria and nuclei: tissue-specific variations
    • Karahalil B., et al. Base excision repair capacity in mitochondria and nuclei: tissue-specific variations. FASEB J. 2002, 16:1895-1902.
    • (2002) FASEB J. , vol.16 , pp. 1895-1902
    • Karahalil, B.1
  • 12
    • 79960563344 scopus 로고    scopus 로고
    • Determinants and dynamics of genome accessibility
    • Bell O., et al. Determinants and dynamics of genome accessibility. Nat. Rev. Genet. 2011, 12:554-564.
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 554-564
    • Bell, O.1
  • 13
    • 84856287453 scopus 로고    scopus 로고
    • DNA double-strand break repair within heterochromatic regions
    • Murray J.M., et al. DNA double-strand break repair within heterochromatic regions. Biochem. Soc. Trans. 2012, 40:173-178.
    • (2012) Biochem. Soc. Trans. , vol.40 , pp. 173-178
    • Murray, J.M.1
  • 14
    • 34249337762 scopus 로고    scopus 로고
    • OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
    • Kovtun I.V., et al. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 2007, 447:447-452.
    • (2007) Nature , vol.447 , pp. 447-452
    • Kovtun, I.V.1
  • 15
    • 84876449659 scopus 로고    scopus 로고
    • The unstable repeats - three evolving faces of neurological disease
    • Nelson D.L., et al. The unstable repeats - three evolving faces of neurological disease. Neuron 2013, 77:825-843.
    • (2013) Neuron , vol.77 , pp. 825-843
    • Nelson, D.L.1
  • 16
    • 34247634326 scopus 로고    scopus 로고
    • Transgenic mouse models of unstable trinucleotide repeats: toward an understanding of disease-associated repeat size mutation
    • Academic Press, R.D. Wells, T. Ashizawa (Eds.)
    • Gomes-Pereira M., et al. Transgenic mouse models of unstable trinucleotide repeats: toward an understanding of disease-associated repeat size mutation. Genetic Instabilities and Neurological Diseases 2006, 563-586. Academic Press. 2nd edn. R.D. Wells, T. Ashizawa (Eds.).
    • (2006) Genetic Instabilities and Neurological Diseases , pp. 563-586
    • Gomes-Pereira, M.1
  • 17
    • 77649144557 scopus 로고    scopus 로고
    • Repeat instability as the basis for human diseases and as a potential target for therapy
    • Lopez Castel A., et al. Repeat instability as the basis for human diseases and as a potential target for therapy. Nat. Rev. Mol. Cell Biol. 2010, 11:165-170.
    • (2010) Nat. Rev. Mol. Cell Biol. , vol.11 , pp. 165-170
    • Lopez Castel, A.1
  • 18
    • 34250878426 scopus 로고    scopus 로고
    • Expandable DNA repeats and human disease
    • Mirkin S.M. Expandable DNA repeats and human disease. Nature 2007, 447:932-940.
    • (2007) Nature , vol.447 , pp. 932-940
    • Mirkin, S.M.1
  • 19
    • 77958109197 scopus 로고    scopus 로고
    • Mechanisms of trinucleotide repeat instability during human development
    • McMurray C.T. Mechanisms of trinucleotide repeat instability during human development. Nat. Rev. Genet. 2010, 11:786-799.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 786-799
    • McMurray, C.T.1
  • 20
    • 27644525713 scopus 로고    scopus 로고
    • Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
    • Cho D.H., et al. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol. Cell 2005, 20:483-489.
    • (2005) Mol. Cell , vol.20 , pp. 483-489
    • Cho, D.H.1
  • 21
    • 11044230096 scopus 로고    scopus 로고
    • Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations
    • Kovtun I.V., et al. Somatic deletion events occur during early embryonic development and modify the extent of CAG expansion in subsequent generations. Hum. Mol. Genet. 2004, 13:3057-3068.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 3057-3068
    • Kovtun, I.V.1
  • 22
    • 42449090287 scopus 로고    scopus 로고
    • Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline
    • Dion V., et al. Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline. Hum. Mol. Genet. 2008, 17:1306-1317.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 1306-1317
    • Dion, V.1
  • 23
    • 77956345129 scopus 로고    scopus 로고
    • Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus
    • Cleary J.D., et al. Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus. Nat. Struct. Mol. Biol. 2010, 17:1079-1087.
    • (2010) Nat. Struct. Mol. Biol. , vol.17 , pp. 1079-1087
    • Cleary, J.D.1
  • 24
    • 33846123946 scopus 로고    scopus 로고
    • An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene
    • Gray S.J., et al. An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene. Mol. Cell. Biol. 2007, 27:426-437.
    • (2007) Mol. Cell. Biol. , vol.27 , pp. 426-437
    • Gray, S.J.1
  • 25
    • 33746592986 scopus 로고    scopus 로고
    • A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene
    • Chastain P.D., et al. A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene. Cell Cycle 2006, 5:869-872.
    • (2006) Cell Cycle , vol.5 , pp. 869-872
    • Chastain, P.D.1
  • 26
    • 84892178896 scopus 로고    scopus 로고
    • The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells
    • Gerhardt J., et al. The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells. Mol. Cell 2014, 53:19-31.
    • (2014) Mol. Cell , vol.53 , pp. 19-31
    • Gerhardt, J.1
  • 27
    • 84868115310 scopus 로고    scopus 로고
    • Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice
    • Mollersen L., et al. Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice. Hum. Mol. Genet. 2012, 21:4939-4947.
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 4939-4947
    • Mollersen, L.1
  • 28
    • 4444323468 scopus 로고    scopus 로고
    • Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
    • Gomes-Pereira M., et al. Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum. Mol. Genet. 2004, 13:1815-1825.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1815-1825
    • Gomes-Pereira, M.1
  • 29
    • 84866056680 scopus 로고    scopus 로고
    • Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice
    • Kovalenko M., et al. Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice. PLoS ONE 2012, 7:e44273.
    • (2012) PLoS ONE , vol.7
    • Kovalenko, M.1
  • 30
    • 0035065524 scopus 로고    scopus 로고
    • Trinucleotide expansion in haploid germ cells by gap repair
    • Kovtun I.V., McMurray C.T. Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet. 2001, 27:407-411.
    • (2001) Nat. Genet. , vol.27 , pp. 407-411
    • Kovtun, I.V.1    McMurray, C.T.2
  • 31
    • 0032708840 scopus 로고    scopus 로고
    • Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
    • Manley K., et al. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 1999, 23:471-473.
    • (1999) Nat. Genet. , vol.23 , pp. 471-473
    • Manley, K.1
  • 32
    • 0037543991 scopus 로고    scopus 로고
    • CTG repeat instability and size variation timing in DNA repair-deficient mice
    • Savouret C., et al. CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J. 2003, 22:2264-2273.
    • (2003) EMBO J. , vol.22 , pp. 2264-2273
    • Savouret, C.1
  • 33
    • 0346725953 scopus 로고    scopus 로고
    • MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice
    • Savouret C., et al. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol. Cell. Biol. 2004, 24:629-637.
    • (2004) Mol. Cell. Biol. , vol.24 , pp. 629-637
    • Savouret, C.1
  • 34
    • 67149083322 scopus 로고    scopus 로고
    • MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice
    • Tome S., et al. MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice. PLoS Genet. 2009, 5:e1000482.
    • (2009) PLoS Genet. , vol.5
    • Tome, S.1
  • 35
    • 0037081784 scopus 로고    scopus 로고
    • Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
    • van den Broek W.J., et al. Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Mol. Genet. 2002, 11:191-198.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 191-198
    • van den Broek, W.J.1
  • 37
    • 84874787154 scopus 로고    scopus 로고
    • MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice
    • Tome S., et al. MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice. PLoS Genet. 2013, 9:e1003280.
    • (2013) PLoS Genet. , vol.9
    • Tome, S.1
  • 38
    • 33646168124 scopus 로고    scopus 로고
    • Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice
    • Foiry L., et al. Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum. Genet. 2006, 119:520-526.
    • (2006) Hum. Genet. , vol.119 , pp. 520-526
    • Foiry, L.1
  • 39
    • 84887286407 scopus 로고    scopus 로고
    • Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches
    • Pinto R.M., et al. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. PLoS Genet. 2013, 9:e1003930.
    • (2013) PLoS Genet. , vol.9
    • Pinto, R.M.1
  • 40
    • 79956016286 scopus 로고    scopus 로고
    • Maternal germline-specific effect of DNA ligase I on CTG/CAG instability
    • Tome S., et al. Maternal germline-specific effect of DNA ligase I on CTG/CAG instability. Hum. Mol. Genet. 2011, 20:2131-2143.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2131-2143
    • Tome, S.1
  • 41
    • 0042470700 scopus 로고    scopus 로고
    • Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability
    • Spiro C., McMurray C.T. Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability. Mol. Cell. Biol. 2003, 23:6063-6074.
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 6063-6074
    • Spiro, C.1    McMurray, C.T.2
  • 42
    • 79960328293 scopus 로고    scopus 로고
    • Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo
    • Kovtun I.V., et al. Cockayne syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo. Aging (Albany NY) 2011, 3:509-514.
    • (2011) Aging (Albany NY) , vol.3 , pp. 509-514
    • Kovtun, I.V.1
  • 43
    • 80052288666 scopus 로고    scopus 로고
    • Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver
    • Lee J.M., et al. Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver. PLoS ONE 2011, 6:e23647.
    • (2011) PLoS ONE , vol.6
    • Lee, J.M.1
  • 44
    • 81855206487 scopus 로고    scopus 로고
    • Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1
    • Hubert L., et al. Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Hum. Mol. Genet. 2011, 20:4822-4830.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 4822-4830
    • Hubert, L.1
  • 45
    • 84881632395 scopus 로고    scopus 로고
    • Tissue-dependent regulation of RNAP II dynamics: the missing link between transcription and trinucleotide repeat instability in diseases?
    • Goula A.V., et al. Tissue-dependent regulation of RNAP II dynamics: the missing link between transcription and trinucleotide repeat instability in diseases?. Transcription 2013, 4:172-176.
    • (2013) Transcription , vol.4 , pp. 172-176
    • Goula, A.V.1
  • 46
    • 67650501195 scopus 로고    scopus 로고
    • Structure-dependent DNA damage and repair in a trinucleotide repeat sequence
    • Jarem D.A., et al. Structure-dependent DNA damage and repair in a trinucleotide repeat sequence. Biochemistry 2009, 48:6655-6663.
    • (2009) Biochemistry , vol.48 , pp. 6655-6663
    • Jarem, D.A.1
  • 47
    • 74249102052 scopus 로고    scopus 로고
    • Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice
    • Goula A.V., et al. Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice. PLoS Genet. 2009, 5:e1000749.
    • (2009) PLoS Genet. , vol.5
    • Goula, A.V.1
  • 48
    • 33744912521 scopus 로고    scopus 로고
    • Mitochondrial and nuclear DNA-repair capacity of various brain regions in mouse is altered in an age-dependent manner
    • Imam S.Z., et al. Mitochondrial and nuclear DNA-repair capacity of various brain regions in mouse is altered in an age-dependent manner. Neurobiol. Aging 2006, 27:1129-1136.
    • (2006) Neurobiol. Aging , vol.27 , pp. 1129-1136
    • Imam, S.Z.1
  • 49
    • 84892748443 scopus 로고    scopus 로고
    • Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues
    • Axford M.M., et al. Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues. PLoS Genet. 2013, 9:e1003866.
    • (2013) PLoS Genet. , vol.9
    • Axford, M.M.1
  • 50
    • 84890803414 scopus 로고    scopus 로고
    • The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model
    • Lokanga R.A., et al. The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model. Hum. Mutat. 2013, 35:129-136.
    • (2013) Hum. Mutat. , vol.35 , pp. 129-136
    • Lokanga, R.A.1
  • 51
    • 84867417215 scopus 로고    scopus 로고
    • Pms2 suppresses large expansions of the (GAA.TTC)n sequence in neuronal tissues
    • Bourn R.L., et al. Pms2 suppresses large expansions of the (GAA.TTC)n sequence in neuronal tissues. PLoS ONE 2012, 7:e47085.
    • (2012) PLoS ONE , vol.7
    • Bourn, R.L.1
  • 52
    • 84858159939 scopus 로고    scopus 로고
    • The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
    • Ezzatizadeh V., et al. The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model. Neurobiol. Dis. 2012, 46:165-171.
    • (2012) Neurobiol. Dis. , vol.46 , pp. 165-171
    • Ezzatizadeh, V.1
  • 53
    • 57449091694 scopus 로고    scopus 로고
    • Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes
    • Dragileva E., et al. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol. Dis. 2009, 33:37-47.
    • (2009) Neurobiol. Dis. , vol.33 , pp. 37-47
    • Dragileva, E.1
  • 54
    • 84871712940 scopus 로고    scopus 로고
    • Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues
    • Tome S., et al. Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues. DNA Repair (Amst.) 2013, 12:46-52.
    • (2013) DNA Repair (Amst.) , vol.12 , pp. 46-52
    • Tome, S.1
  • 55
    • 84894519258 scopus 로고    scopus 로고
    • Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age
    • Mason A.G., et al. Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age. Hum. Mol. Genet. 2013, 23:1606-1618.
    • (2013) Hum. Mol. Genet. , vol.23 , pp. 1606-1618
    • Mason, A.G.1
  • 56
    • 79952270884 scopus 로고    scopus 로고
    • HDACs link the DNA damage response, processing of double-strand breaks and autophagy
    • Robert T., et al. HDACs link the DNA damage response, processing of double-strand breaks and autophagy. Nature 2011, 471:74-79.
    • (2011) Nature , vol.471 , pp. 74-79
    • Robert, T.1
  • 57
    • 84869005181 scopus 로고    scopus 로고
    • MutSbeta and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells
    • Gannon A.M., et al. MutSbeta and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells. Nucleic Acids Res. 2012, 40:10324-10333.
    • (2012) Nucleic Acids Res. , vol.40 , pp. 10324-10333
    • Gannon, A.M.1
  • 58
    • 84860745933 scopus 로고    scopus 로고
    • The nucleotide sequence, DNA damage location, and protein stoichiometry influence the base excision repair outcome at CAG/CTG repeats
    • Goula A.V., et al. The nucleotide sequence, DNA damage location, and protein stoichiometry influence the base excision repair outcome at CAG/CTG repeats. Biochemistry 2012, 51:3919-3932.
    • (2012) Biochemistry , vol.51 , pp. 3919-3932
    • Goula, A.V.1
  • 59
    • 0035903189 scopus 로고    scopus 로고
    • Involvement of the nucleotide excision repair protein UvrA in instability of CAG*CTG repeat sequences in Escherichia coli
    • Oussatcheva E.A., et al. Involvement of the nucleotide excision repair protein UvrA in instability of CAG*CTG repeat sequences in Escherichia coli. J. Biol. Chem. 2001, 276:30878-30884.
    • (2001) J. Biol. Chem. , vol.276 , pp. 30878-30884
    • Oussatcheva, E.A.1
  • 60
    • 0033556218 scopus 로고    scopus 로고
    • Nucleotide excision repair affects the stability of long transcribed (CTG*CAG) tracts in an orientation-dependent manner in Escherichia coli
    • Parniewski P., et al. Nucleotide excision repair affects the stability of long transcribed (CTG*CAG) tracts in an orientation-dependent manner in Escherichia coli. Nucleic Acids Res. 1999, 27:616-623.
    • (1999) Nucleic Acids Res. , vol.27 , pp. 616-623
    • Parniewski, P.1
  • 61
    • 32244438870 scopus 로고    scopus 로고
    • Transcription promotes contraction of CAG repeat tracts in human cells
    • Lin Y., et al. Transcription promotes contraction of CAG repeat tracts in human cells. Nat. Struct. Mol. Biol. 2006, 13:179-180.
    • (2006) Nat. Struct. Mol. Biol. , vol.13 , pp. 179-180
    • Lin, Y.1
  • 62
    • 34548204316 scopus 로고    scopus 로고
    • Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair
    • Lin Y., Wilson J.H. Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair. Mol. Cell. Biol. 2007, 27:6209-6217.
    • (2007) Mol. Cell. Biol. , vol.27 , pp. 6209-6217
    • Lin, Y.1    Wilson, J.H.2
  • 63
    • 78651099242 scopus 로고    scopus 로고
    • Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats
    • Nakamori M., et al. Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats. Hum. Mol. Genet. 2011, 20:580-588.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 580-588
    • Nakamori, M.1
  • 64
    • 34147136044 scopus 로고    scopus 로고
    • CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease
    • Jung J., Bonini N. CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease. Science 2007, 315:1857-1859.
    • (2007) Science , vol.315 , pp. 1857-1859
    • Jung, J.1    Bonini, N.2
  • 65
    • 84893945596 scopus 로고    scopus 로고
    • Gender and cell-type specific effects of the transcription coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders
    • Zhao X.N., Usdin K. Gender and cell-type specific effects of the transcription coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders. Hum. Mutat. 2013, 10.1002/humu.22495.
    • (2013) Hum. Mutat.
    • Zhao, X.N.1    Usdin, K.2
  • 66
    • 77952255626 scopus 로고    scopus 로고
    • A novel approach to investigate tissue-specific trinucleotide repeat instability
    • Lee J.M., et al. A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst. Biol. 2010, 4:29.
    • (2010) BMC Syst. Biol. , vol.4 , pp. 29
    • Lee, J.M.1
  • 67
    • 71149108056 scopus 로고    scopus 로고
    • Correlation of mRNA and protein in complex biological samples
    • Maier T., et al. Correlation of mRNA and protein in complex biological samples. FEBS Lett. 2009, 583:3966-3973.
    • (2009) FEBS Lett. , vol.583 , pp. 3966-3973
    • Maier, T.1
  • 68
    • 0242718930 scopus 로고    scopus 로고
    • Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair
    • Lenzmeier B.A., Freudenreich C.H. Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair. Cytogenet. Genome Res. 2003, 100:7-24.
    • (2003) Cytogenet. Genome Res. , vol.100 , pp. 7-24
    • Lenzmeier, B.A.1    Freudenreich, C.H.2
  • 69
    • 0242607211 scopus 로고    scopus 로고
    • Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells
    • Yang Z., et al. Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells. Am. J. Hum. Genet. 2003, 73:1092-1105.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1092-1105
    • Yang, Z.1
  • 70
    • 0037405845 scopus 로고    scopus 로고
    • Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells
    • Meservy J.L., et al. Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol. Cell. Biol. 2003, 23:3152-3162.
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 3152-3162
    • Meservy, J.L.1
  • 71
    • 0038044708 scopus 로고    scopus 로고
    • Selectable system for monitoring the instability of CTG/CAG triplet repeats in mammalian cells
    • Gorbunova V., et al. Selectable system for monitoring the instability of CTG/CAG triplet repeats in mammalian cells. Mol. Cell. Biol. 2003, 23:4485-4493.
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 4485-4493
    • Gorbunova, V.1
  • 72
    • 0031827446 scopus 로고    scopus 로고
    • Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
    • Lia A.S., et al. Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Hum. Mol. Genet. 1998, 7:1285-1291.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1285-1291
    • Lia, A.S.1
  • 73
    • 67649983121 scopus 로고    scopus 로고
    • Instability and chromatin structure of expanded trinucleotide repeats
    • Dion V., Wilson J.H. Instability and chromatin structure of expanded trinucleotide repeats. Trends Genet. 2009, 25:288-297.
    • (2009) Trends Genet. , vol.25 , pp. 288-297
    • Dion, V.1    Wilson, J.H.2
  • 74
    • 0036469913 scopus 로고    scopus 로고
    • The connection between transcription and genomic instability
    • Aguilera A. The connection between transcription and genomic instability. EMBO J. 2002, 21:195-201.
    • (2002) EMBO J. , vol.21 , pp. 195-201
    • Aguilera, A.1
  • 75
    • 56749157389 scopus 로고    scopus 로고
    • Transcription-coupled DNA repair: two decades of progress and surprises
    • Hanawalt P.C., Spivak G. Transcription-coupled DNA repair: two decades of progress and surprises. Nat. Rev. Mol. Cell Biol. 2008, 9:958-970.
    • (2008) Nat. Rev. Mol. Cell Biol. , vol.9 , pp. 958-970
    • Hanawalt, P.C.1    Spivak, G.2
  • 76
    • 0028015996 scopus 로고
    • IT15 gene expression in fetal human brain
    • Dure L.S.T., et al. IT15 gene expression in fetal human brain. Brain Res. 1994, 659:33-41.
    • (1994) Brain Res. , vol.659 , pp. 33-41
    • Dure, L.S.T.1
  • 77
    • 9444286388 scopus 로고    scopus 로고
    • Expression of normal and mutant huntingtin in the developing brain
    • Bhide P.G., et al. Expression of normal and mutant huntingtin in the developing brain. J. Neurosci. 1996, 16:5523-5535.
    • (1996) J. Neurosci. , vol.16 , pp. 5523-5535
    • Bhide, P.G.1
  • 78
    • 80053215162 scopus 로고    scopus 로고
    • DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instability
    • Salinas-Rios V., et al. DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instability. Nucleic Acids Res. 2011, 39:7444-7454.
    • (2011) Nucleic Acids Res. , vol.39 , pp. 7444-7454
    • Salinas-Rios, V.1
  • 79
    • 84870689631 scopus 로고    scopus 로고
    • Transcription elongation and tissue-specific somatic CAG instability
    • Goula A.V., et al. Transcription elongation and tissue-specific somatic CAG instability. PLoS Genet. 2012, 8:e1003051.
    • (2012) PLoS Genet. , vol.8
    • Goula, A.V.1
  • 80
    • 84856120332 scopus 로고    scopus 로고
    • Understanding the language of Lys36 methylation at histone H3
    • Wagner E.J., Carpenter P.B. Understanding the language of Lys36 methylation at histone H3. Nat. Rev. Mol. Cell Biol. 2012, 13:115-126.
    • (2012) Nat. Rev. Mol. Cell Biol. , vol.13 , pp. 115-126
    • Wagner, E.J.1    Carpenter, P.B.2
  • 81
    • 84857485218 scopus 로고    scopus 로고
    • Histone deacetylase complexes promote trinucleotide repeat expansions
    • Debacker K., et al. Histone deacetylase complexes promote trinucleotide repeat expansions. PLoS Biol. 2012, 10:e1001257.
    • (2012) PLoS Biol. , vol.10
    • Debacker, K.1
  • 82
    • 57149089871 scopus 로고    scopus 로고
    • CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination
    • Libby R.T., et al. CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet. 2008, 4:e1000257.
    • (2008) PLoS Genet. , vol.4
    • Libby, R.T.1
  • 83
    • 79956205888 scopus 로고    scopus 로고
    • DNA repair deficiency in neurodegeneration
    • Jeppesen D.K., et al. DNA repair deficiency in neurodegeneration. Prog. Neurobiol. 2011, 94:166-200.
    • (2011) Prog. Neurobiol. , vol.94 , pp. 166-200
    • Jeppesen, D.K.1
  • 85
    • 48249095920 scopus 로고    scopus 로고
    • Single-strand break repair and genetic disease
    • Caldecott K.W. Single-strand break repair and genetic disease. Nat. Rev. Genet. 2008, 9:619-631.
    • (2008) Nat. Rev. Genet. , vol.9 , pp. 619-631
    • Caldecott, K.W.1
  • 86
    • 79956189605 scopus 로고    scopus 로고
    • Repair and biochemical effects of DNA-protein crosslinks
    • Ide H., et al. Repair and biochemical effects of DNA-protein crosslinks. Mutat. Res. 2011, 711:113-122.
    • (2011) Mutat. Res. , vol.711 , pp. 113-122
    • Ide, H.1
  • 88
    • 84900411285 scopus 로고    scopus 로고
    • DNA DSB repair pathway choice: an orchestrated handover mechanism
    • Kakarougkas A., Jeggo P. DNA DSB repair pathway choice: an orchestrated handover mechanism. Br. J. Radiol. 2014, 87:20130685.
    • (2014) Br. J. Radiol. , vol.87 , pp. 20130685
    • Kakarougkas, A.1    Jeggo, P.2
  • 89
    • 0034790947 scopus 로고    scopus 로고
    • Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
    • Date H., et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat. Genet. 2001, 29:184-188.
    • (2001) Nat. Genet. , vol.29 , pp. 184-188
    • Date, H.1
  • 90
  • 91
    • 0026772876 scopus 로고
    • Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene
    • Webster A.D., et al. Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet 1992, 339:1508-1509.
    • (1992) Lancet , vol.339 , pp. 1508-1509
    • Webster, A.D.1
  • 92
    • 77649188409 scopus 로고    scopus 로고
    • Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
    • Shen J., et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat. Genet. 2010, 42:245-249.
    • (2010) Nat. Genet. , vol.42 , pp. 245-249
    • Shen, J.1
  • 93
    • 0036478899 scopus 로고    scopus 로고
    • Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
    • Al-Tassan N., et al. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat. Genet. 2002, 30:227-232.
    • (2002) Nat. Genet. , vol.30 , pp. 227-232
    • Al-Tassan, N.1
  • 94
    • 0142092610 scopus 로고    scopus 로고
    • Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
    • Imai K., et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat. Immunol. 2003, 4:1023-1028.
    • (2003) Nat. Immunol. , vol.4 , pp. 1023-1028
    • Imai, K.1
  • 95
    • 0032730774 scopus 로고    scopus 로고
    • Genetic susceptibility to non-polyposis colorectal cancer
    • Lynch H.T., de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J. Med. Genet. 1999, 36:801-818.
    • (1999) J. Med. Genet. , vol.36 , pp. 801-818
    • Lynch, H.T.1    de la Chapelle, A.2
  • 96
    • 18644386254 scopus 로고    scopus 로고
    • Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
    • Takashima H., et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat. Genet. 2002, 32:267-272.
    • (2002) Nat. Genet. , vol.32 , pp. 267-272
    • Takashima, H.1
  • 97
    • 84860330507 scopus 로고    scopus 로고
    • Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
    • Nakazawa Y., et al. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat. Genet. 2012, 44:586-592.
    • (2012) Nat. Genet. , vol.44 , pp. 586-592
    • Nakazawa, Y.1
  • 98
    • 79960335677 scopus 로고    scopus 로고
    • Topoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells
    • Hubert L., et al. Topoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells. Mol. Cell. Biol. 2011, 31:3105-3112.
    • (2011) Mol. Cell. Biol. , vol.31 , pp. 3105-3112
    • Hubert, L.1
  • 99
    • 25844524498 scopus 로고    scopus 로고
    • Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair
    • Panigrahi G.B., et al. Slipped (CTG)*(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair. Nat. Struct. Mol. Biol. 2005, 12:654-662.
    • (2005) Nat. Struct. Mol. Biol. , vol.12 , pp. 654-662
    • Panigrahi, G.B.1
  • 100
    • 16044373842 scopus 로고    scopus 로고
    • Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
    • Mangiarini L., et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996, 87:493-506.
    • (1996) Cell , vol.87 , pp. 493-506
    • Mangiarini, L.1
  • 101
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
    • Monckton D.G., et al. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet. 1995, 4:1-8.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1-8
    • Monckton, D.G.1
  • 102
    • 33750032103 scopus 로고    scopus 로고
    • CAG*CTG repeat instability in cultured human astrocytes
    • Farrell B.T., Lahue R.S. CAG*CTG repeat instability in cultured human astrocytes. Nucleic Acids Res. 2006, 34:4495-4505.
    • (2006) Nucleic Acids Res. , vol.34 , pp. 4495-4505
    • Farrell, B.T.1    Lahue, R.S.2
  • 103
    • 0036578758 scopus 로고    scopus 로고
    • Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
    • Cleary J.D., et al. Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat. Genet. 2002, 31:37-46.
    • (2002) Nat. Genet. , vol.31 , pp. 37-46
    • Cleary, J.D.1
  • 104
    • 0034194141 scopus 로고    scopus 로고
    • Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
    • Seznec H., et al. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum. Mol. Genet. 2000, 9:1185-1194.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1185-1194
    • Seznec, H.1
  • 105
    • 0032938295 scopus 로고    scopus 로고
    • Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
    • Wheeler V.C., et al. Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum. Mol. Genet. 1999, 8:115-122.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 115-122
    • Wheeler, V.C.1
  • 106
    • 18444386197 scopus 로고    scopus 로고
    • A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration
    • Watase K., et al. A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron 2002, 34:905-919.
    • (2002) Neuron , vol.34 , pp. 905-919
    • Watase, K.1
  • 107
    • 12244311838 scopus 로고    scopus 로고
    • Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
    • Libby R.T., et al. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum. Mol. Genet. 2003, 12:41-50.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 41-50
    • Libby, R.T.1
  • 108
    • 34548263572 scopus 로고    scopus 로고
    • Transcription and triplet repeat instability
    • Academic Press, W.A. Ashizawa (Ed.)
    • Lin Y., et al. Transcription and triplet repeat instability. Genetic Instabilities and Neurological Diseases 2006, 691-704. Academic Press. W.A. Ashizawa (Ed.).
    • (2006) Genetic Instabilities and Neurological Diseases , pp. 691-704
    • Lin, Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.