All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion...

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Published inScientific reports Vol. 14; no. 1; pp. 13772 - 10
Main Authors Hayward, Bruce, Kumari, Daman, Santra, Saikat, van Karnebeek, Clara D. M., van Kuilenburg, André B. P., Usdin, Karen
Format Journal Article
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Published London Nature Publishing Group UK 14.06.2024
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Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion mechanism is unclear. To date, expansion has only been studied in a limited number of REDs. Here we report the first studies of the expansion mechanism in induced pluripotent stem cells derived from a patient with a form of the glutaminase deficiency disorder known as Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine (GDPAG; OMIM# 618412) caused by the expansion of a CAG-STR in the 5′ UTR of the glutaminase ( GLS ) gene. We show that alleles with as few as ~ 120 repeats show detectable expansions in culture despite relatively low levels of R-loops formed at this locus. Additionally, using a CRISPR-Cas9 knockout approach we show that PMS2 and MLH3, the constituents of MutLα and MutLγ, the 2 mammalian MutL complexes known to be involved in mismatch repair (MMR), are essential for expansion. Furthermore, PMS1, a component of a less well understood MutL complex, MutLβ, is also important, if not essential, for repeat expansion in these cells. Our results provide insights into the factors important for expansion and lend weight to the idea that, despite some differences, the same mechanism is responsible for expansion in many, if not all, REDs.
AbstractList The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion mechanism is unclear. To date, expansion has only been studied in a limited number of REDs. Here we report the first studies of the expansion mechanism in induced pluripotent stem cells derived from a patient with a form of the glutaminase deficiency disorder known as Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine (GDPAG; OMIM# 618412) caused by the expansion of a CAG-STR in the 5' UTR of the glutaminase (GLS) gene. We show that alleles with as few as ~ 120 repeats show detectable expansions in culture despite relatively low levels of R-loops formed at this locus. Additionally, using a CRISPR-Cas9 knockout approach we show that PMS2 and MLH3, the constituents of MutLα and MutLγ, the 2 mammalian MutL complexes known to be involved in mismatch repair (MMR), are essential for expansion. Furthermore, PMS1, a component of a less well understood MutL complex, MutLβ, is also important, if not essential, for repeat expansion in these cells. Our results provide insights into the factors important for expansion and lend weight to the idea that, despite some differences, the same mechanism is responsible for expansion in many, if not all, REDs.
The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion mechanism is unclear. To date, expansion has only been studied in a limited number of REDs. Here we report the first studies of the expansion mechanism in induced pluripotent stem cells derived from a patient with a form of the glutaminase deficiency disorder known as Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine (GDPAG; OMIM# 618412) caused by the expansion of a CAG-STR in the 5′ UTR of the glutaminase ( GLS ) gene. We show that alleles with as few as ~ 120 repeats show detectable expansions in culture despite relatively low levels of R-loops formed at this locus. Additionally, using a CRISPR-Cas9 knockout approach we show that PMS2 and MLH3, the constituents of MutLα and MutLγ, the 2 mammalian MutL complexes known to be involved in mismatch repair (MMR), are essential for expansion. Furthermore, PMS1, a component of a less well understood MutL complex, MutLβ, is also important, if not essential, for repeat expansion in these cells. Our results provide insights into the factors important for expansion and lend weight to the idea that, despite some differences, the same mechanism is responsible for expansion in many, if not all, REDs.
The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion mechanism is unclear. To date, expansion has only been studied in a limited number of REDs. Here we report the first studies of the expansion mechanism in induced pluripotent stem cells derived from a patient with a form of the glutaminase deficiency disorder known as Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine (GDPAG; OMIM# 618412) caused by the expansion of a CAG-STR in the 5' UTR of the glutaminase (GLS) gene. We show that alleles with as few as ~ 120 repeats show detectable expansions in culture despite relatively low levels of R-loops formed at this locus. Additionally, using a CRISPR-Cas9 knockout approach we show that PMS2 and MLH3, the constituents of MutLα and MutLγ, the 2 mammalian MutL complexes known to be involved in mismatch repair (MMR), are essential for expansion. Furthermore, PMS1, a component of a less well understood MutL complex, MutLβ, is also important, if not essential, for repeat expansion in these cells. Our results provide insights into the factors important for expansion and lend weight to the idea that, despite some differences, the same mechanism is responsible for expansion in many, if not all, REDs.The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion mechanism is unclear. To date, expansion has only been studied in a limited number of REDs. Here we report the first studies of the expansion mechanism in induced pluripotent stem cells derived from a patient with a form of the glutaminase deficiency disorder known as Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine (GDPAG; OMIM# 618412) caused by the expansion of a CAG-STR in the 5' UTR of the glutaminase (GLS) gene. We show that alleles with as few as ~ 120 repeats show detectable expansions in culture despite relatively low levels of R-loops formed at this locus. Additionally, using a CRISPR-Cas9 knockout approach we show that PMS2 and MLH3, the constituents of MutLα and MutLγ, the 2 mammalian MutL complexes known to be involved in mismatch repair (MMR), are essential for expansion. Furthermore, PMS1, a component of a less well understood MutL complex, MutLβ, is also important, if not essential, for repeat expansion in these cells. Our results provide insights into the factors important for expansion and lend weight to the idea that, despite some differences, the same mechanism is responsible for expansion in many, if not all, REDs.
Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion mechanism is unclear. To date, expansion has only been studied in a limited number of REDs. Here we report the first studies of the expansion mechanism in induced pluripotent stem cells derived from a patient with a form of the glutaminase deficiency disorder known as Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine (GDPAG; OMIM# 618412) caused by the expansion of a CAG-STR in the 5′ UTR of the glutaminase (GLS) gene. We show that alleles with as few as ~ 120 repeats show detectable expansions in culture despite relatively low levels of R-loops formed at this locus. Additionally, using a CRISPR-Cas9 knockout approach we show that PMS2 and MLH3, the constituents of MutLα and MutLγ, the 2 mammalian MutL complexes known to be involved in mismatch repair (MMR), are essential for expansion. Furthermore, PMS1, a component of a less well understood MutL complex, MutLβ, is also important, if not essential, for repeat expansion in these cells. Our results provide insights into the factors important for expansion and lend weight to the idea that, despite some differences, the same mechanism is responsible for expansion in many, if not all, REDs.
Author Kumari, Daman
Santra, Saikat
Usdin, Karen
Hayward, Bruce
van Karnebeek, Clara D. M.
van Kuilenburg, André B. P.
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Cites_doi 10.3390/brainsci9030052
10.1038/s41598-022-14183-0
10.1371/journal.pone.0047085
10.1056/NEJMoa1806627
10.1038/nmeth.1318
10.1093/brain/awz115
10.1074/jbc.REV119.007678
10.1016/j.stem.2010.09.014
10.1038/srep11319
10.1038/s41598-022-17452-0
10.1016/j.molcel.2012.01.017
10.3233/JHD-200426
10.1007/s10689-007-9145-9
10.1007/978-1-4939-9080-1_4
10.1002/stem.1293
10.1073/pnas.96.12.6850
10.1093/hmg/ddh186
10.1093/nar/16.3.1215
10.1038/s41593-022-01033-5
10.1073/pnas.1010662107
10.1038/ng0398-276
10.1002/humu.20318
10.3390/ijms22179167
10.1016/j.jmoldx.2016.06.001
10.1534/genetics.118.301672
10.1093/hmg/ddt386
10.1038/ncomms10606
10.1073/pnas.1914718117
10.1016/j.ajhg.2020.05.012
10.4161/rna.7.5.12745
10.1093/nar/gky099
10.1128/MCB.00332-10
10.1073/pnas.1711283114
10.1371/journal.pgen.1008902
10.1038/nprot.2013.143
10.1093/hmg/ddw215
10.1016/B978-0-444-63233-3.00009-9
10.1371/journal.pgen.1004294
10.1016/j.celrep.2021.109649
10.1093/nar/gky354
10.1016/0022-1759(86)90040-2
10.1371/journal.pgen.1001242
10.3233/JHD-200438
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Issue 1
Keywords Mismatch repair (MMR)
Repeat expansion disease
GDPAG
Microsatellite instability
Glutaminase deficiency disorder
GLSD
Language English
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References Yao (CR22) 1999; 96
Ran (CR14) 2013; 8
Ginno, Lott, Christensen, Korf, Chedin (CR40) 2012; 45
Ku (CR28) 2010; 7
van Kuilenburg (CR1) 2019; 380
Boland, Koi, Chang, Carethers (CR23) 2008; 7
Pluciennik (CR42) 2010; 107
Wheeler, Dion (CR5) 2021; 10
Neil, Liang, Khristich, Shah, Mirkin (CR31) 2018; 46
Boguslawski (CR34) 1986; 89
Zhao (CR4) 2019
McIvor, Polak, Napierala (CR33) 2010; 7
Flower (CR9) 2019; 142
CR15
Li, Matsui, Corey (CR35) 2016; 7
Zhao, Usdin (CR3) 2021
Du, Campau, Soragni, Jespersen, Gottesfeld (CR27) 2013; 22
Møllersen, Rowe, Larsen, Rognes, Klungland (CR29) 2010; 6
Gomes-Pereira, Fortune, Ingram, McAbney, Monckton (CR12) 2004; 13
Hayward, Zhou, Kumari, Usdin (CR25) 2016; 18
Prolla (CR43) 1998; 18
Khristich, Mirkin (CR32) 2020; 295
Loomis, Sanz, Chedin, Hagerman (CR36) 2014; 10
Clendenning (CR18) 2006; 27
Hayward, Usdin (CR24) 2019; 1942
McAllister (CR6) 2022; 25
Concordet, Haeussler (CR19) 2018; 46
Iyer, Pluciennik (CR44) 2021; 10
Okita (CR16) 2013; 31
Kadyrova, Gujar, Burdett, Modrich, Kadyrov (CR41) 2020; 117
Miller, Kim, Zhao, Usdin (CR11) 2020; 16
Hwang (CR8) 2022; 12
Abu Diab (CR38) 2018; 210
Paulson (CR2) 2018; 147
Bourn (CR13) 2012; 7
Su, Freudenreich (CR30) 2017; 114
Kim (CR7) 2020; 107
Gibson (CR17) 2009; 6
Beers (CR20) 2015; 5
Miller, Dykes, Polesky (CR21) 1988; 16
Kumari, Usdin (CR37) 2016; 25
Lin, Leng, Wan, Wilson (CR10) 2010; 30
Goold (CR26) 2021; 36
Thongthip, Carlson, Crossley, Schwer (CR39) 2022; 12
38260514 - bioRxiv. 2024 May 09:2023.12.26.573357. doi: 10.1101/2023.12.26.573357
References_xml – year: 2019
  ident: CR4
  article-title: Repeat instability in the fragile X-related disorders: Lessons from a mouse model
  publication-title: Brain Sci.
  doi: 10.3390/brainsci9030052
  contributor:
    fullname: Zhao
– volume: 12
  start-page: 10419
  year: 2022
  ident: CR8
  article-title: Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation
  publication-title: Sci. Rep.
  doi: 10.1038/s41598-022-14183-0
  contributor:
    fullname: Hwang
– volume: 7
  start-page: e47085
  year: 2012
  ident: CR13
  article-title: Pms2 suppresses large expansions of the (GAA.TTC)n sequence in neuronal tissues
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0047085
  contributor:
    fullname: Bourn
– volume: 380
  start-page: 1433
  year: 2019
  end-page: 1441
  ident: CR1
  article-title: Glutaminase deficiency caused by short tandem repeat expansion in GLS
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJMoa1806627
  contributor:
    fullname: van Kuilenburg
– volume: 6
  start-page: 343
  year: 2009
  end-page: 345
  ident: CR17
  article-title: Enzymatic assembly of DNA molecules up to several hundred kilobases
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.1318
  contributor:
    fullname: Gibson
– volume: 142
  start-page: 1876
  year: 2019
  end-page: 1886
  ident: CR9
  article-title: MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
  publication-title: Brain
  doi: 10.1093/brain/awz115
  contributor:
    fullname: Flower
– volume: 295
  start-page: 4134
  year: 2020
  end-page: 4170
  ident: CR32
  article-title: On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.REV119.007678
  contributor:
    fullname: Mirkin
– volume: 7
  start-page: 631
  year: 2010
  end-page: 637
  ident: CR28
  article-title: Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability
  publication-title: Cell Stem Cell
  doi: 10.1016/j.stem.2010.09.014
  contributor:
    fullname: Ku
– volume: 5
  start-page: 11319
  year: 2015
  ident: CR20
  article-title: A cost-effective and efficient reprogramming platform for large-scale production of integration-free human induced pluripotent stem cells in chemically defined culture
  publication-title: Sci. Rep.
  doi: 10.1038/srep11319
  contributor:
    fullname: Beers
– volume: 12
  start-page: 13373
  year: 2022
  ident: CR39
  article-title: Relationships between genome-wide R-loop distribution and classes of recurrent DNA breaks in neural stem/progenitor cells
  publication-title: Sci. Rep.
  doi: 10.1038/s41598-022-17452-0
  contributor:
    fullname: Schwer
– volume: 45
  start-page: 814
  year: 2012
  end-page: 825
  ident: CR40
  article-title: R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters
  publication-title: Mol. Cell
  doi: 10.1016/j.molcel.2012.01.017
  contributor:
    fullname: Chedin
– volume: 10
  start-page: 123
  year: 2021
  end-page: 148
  ident: CR5
  article-title: Modifiers of CAG/CTG repeat instability: Insights from Mammalian models
  publication-title: J. Huntingt. Dis.
  doi: 10.3233/JHD-200426
  contributor:
    fullname: Dion
– volume: 7
  start-page: 41
  year: 2008
  end-page: 52
  ident: CR23
  article-title: The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: From bench to bedside
  publication-title: Fam. Cancer
  doi: 10.1007/s10689-007-9145-9
  contributor:
    fullname: Carethers
– volume: 1942
  start-page: 49
  year: 2019
  end-page: 59
  ident: CR24
  article-title: Assays for determining repeat number, methylation status, and AGG interruptions in the fragile X-related disorders
  publication-title: Methods Mol. Biol.
  doi: 10.1007/978-1-4939-9080-1_4
  contributor:
    fullname: Usdin
– volume: 31
  start-page: 458
  year: 2013
  end-page: 466
  ident: CR16
  article-title: An efficient nonviral method to generate integration-free human-induced pluripotent stem cells from cord blood and peripheral blood cells
  publication-title: Stem Cells
  doi: 10.1002/stem.1293
  contributor:
    fullname: Okita
– volume: 96
  start-page: 6850
  year: 1999
  end-page: 6855
  ident: CR22
  article-title: Different mutator phenotypes in Mlh1- versus Pms2-deficient mice
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.96.12.6850
  contributor:
    fullname: Yao
– volume: 13
  start-page: 1815
  year: 2004
  end-page: 1825
  ident: CR12
  article-title: Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: Implications for the mechanism of triplet repeat expansion
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddh186
  contributor:
    fullname: Monckton
– volume: 16
  start-page: 1215
  year: 1988
  ident: CR21
  article-title: A simple salting out procedure for extracting DNA from human nucleated cells
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/16.3.1215
  contributor:
    fullname: Polesky
– volume: 25
  start-page: 446
  year: 2022
  end-page: 457
  ident: CR6
  article-title: Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
  publication-title: Nat. Neurosci.
  doi: 10.1038/s41593-022-01033-5
  contributor:
    fullname: McAllister
– volume: 107
  start-page: 16066
  year: 2010
  end-page: 16071
  ident: CR42
  article-title: PCNA function in the activation and strand direction of MutLalpha endonuclease in mismatch repair
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.1010662107
  contributor:
    fullname: Pluciennik
– volume: 18
  start-page: 276
  year: 1998
  end-page: 279
  ident: CR43
  article-title: Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair
  publication-title: Nat. Genet.
  doi: 10.1038/ng0398-276
  contributor:
    fullname: Prolla
– volume: 27
  start-page: 490
  year: 2006
  end-page: 495
  ident: CR18
  article-title: Long-range PCR facilitates the identification of PMS2-specific mutations
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.20318
  contributor:
    fullname: Clendenning
– year: 2021
  ident: CR3
  article-title: (Dys)function follows form: nucleic acid structure, repeat expansion, and disease pathology in FMR1 disorders
  publication-title: Int. J. Mol. Sci.
  doi: 10.3390/ijms22179167
  contributor:
    fullname: Usdin
– volume: 18
  start-page: 762
  year: 2016
  end-page: 774
  ident: CR25
  article-title: A set of assays for the comprehensive analysis of FMR1 Alleles in the Fragile X-related disorders
  publication-title: J. Mol. Diagn.
  doi: 10.1016/j.jmoldx.2016.06.001
  contributor:
    fullname: Usdin
– volume: 210
  start-page: 1239
  year: 2018
  end-page: 1252
  ident: CR38
  article-title: The G-rich Repeats in FMR1 and C9orf72 Loci Are Hotspots for Local Unpairing of DNA
  publication-title: Genetics
  doi: 10.1534/genetics.118.301672
  contributor:
    fullname: Abu Diab
– volume: 22
  start-page: 5276
  year: 2013
  end-page: 5287
  ident: CR27
  article-title: Length-dependent CTG.CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddt386
  contributor:
    fullname: Gottesfeld
– volume: 7
  start-page: 10606
  year: 2016
  ident: CR35
  article-title: Activating frataxin expression by repeat-targeted nucleic acids
  publication-title: Nat. Commun.
  doi: 10.1038/ncomms10606
  contributor:
    fullname: Corey
– volume: 117
  start-page: 3535
  year: 2020
  end-page: 3542
  ident: CR41
  article-title: Human MutLgamma, the MLH1-MLH3 heterodimer, is an endonuclease that promotes DNA expansion
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.1914718117
  contributor:
    fullname: Kadyrov
– ident: CR15
– volume: 107
  start-page: 96
  year: 2020
  end-page: 110
  ident: CR7
  article-title: Genetic and functional analyses point to FAN1 as the source of multiple Huntington disease modifier effects
  publication-title: Am. J. Hum. Genet.
  doi: 10.1016/j.ajhg.2020.05.012
  contributor:
    fullname: Kim
– volume: 7
  start-page: 551
  year: 2010
  end-page: 558
  ident: CR33
  article-title: New insights into repeat instability: Role of RNA*DNA hybrids
  publication-title: RNA Biol.
  doi: 10.4161/rna.7.5.12745
  contributor:
    fullname: Napierala
– volume: 46
  start-page: 3487
  year: 2018
  end-page: 3497
  ident: CR31
  article-title: RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gky099
  contributor:
    fullname: Mirkin
– volume: 30
  start-page: 4435
  year: 2010
  end-page: 4451
  ident: CR10
  article-title: Convergent transcription through a long CAG tract destabilizes repeats and induces apoptosis
  publication-title: Mol. Cell. Biol.
  doi: 10.1128/MCB.00332-10
  contributor:
    fullname: Wilson
– volume: 114
  start-page: E8392
  year: 2017
  end-page: E8401
  ident: CR30
  article-title: Cytosine deamination and base excision repair cause R-loop-induced CAG repeat fragility and instability in
  publication-title: Proc. Natl. Acad. Sci. U. S. A.
  doi: 10.1073/pnas.1711283114
  contributor:
    fullname: Freudenreich
– volume: 16
  year: 2020
  ident: CR11
  article-title: All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1008902
  contributor:
    fullname: Usdin
– volume: 8
  start-page: 2281
  year: 2013
  end-page: 2308
  ident: CR14
  article-title: Genome engineering using the CRISPR-Cas9 system
  publication-title: Nat. Protoc.
  doi: 10.1038/nprot.2013.143
  contributor:
    fullname: Ran
– volume: 25
  start-page: 3689
  year: 2016
  end-page: 3698
  ident: CR37
  article-title: Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddw215
  contributor:
    fullname: Usdin
– volume: 147
  start-page: 105
  year: 2018
  end-page: 123
  ident: CR2
  article-title: Repeat expansion diseases
  publication-title: Handb. Clin. Neurol.
  doi: 10.1016/B978-0-444-63233-3.00009-9
  contributor:
    fullname: Paulson
– volume: 10
  year: 2014
  ident: CR36
  article-title: Transcription-associated R-loop formation across the human FMR1 CGG-repeat region
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1004294
  contributor:
    fullname: Hagerman
– volume: 36
  year: 2021
  ident: CR26
  article-title: FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease
  publication-title: Cell Rep.
  doi: 10.1016/j.celrep.2021.109649
  contributor:
    fullname: Goold
– volume: 46
  start-page: W242
  year: 2018
  end-page: W245
  ident: CR19
  article-title: CRISPOR: Intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/gky354
  contributor:
    fullname: Haeussler
– volume: 89
  start-page: 123
  year: 1986
  end-page: 130
  ident: CR34
  article-title: Characterization of monoclonal antibody to DNA.RNA and its application to immunodetection of hybrids
  publication-title: J. Immunol. Methods
  doi: 10.1016/0022-1759(86)90040-2
  contributor:
    fullname: Boguslawski
– volume: 6
  year: 2010
  ident: CR29
  article-title: Continuous and periodic expansion of CAG repeats in Huntington's disease R6/1 mice
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1001242
  contributor:
    fullname: Klungland
– volume: 10
  start-page: 75
  year: 2021
  end-page: 94
  ident: CR44
  article-title: DNA mismatch repair and its role in Huntington's disease
  publication-title: J. Huntingt. Dis.
  doi: 10.3233/JHD-200438
  contributor:
    fullname: Pluciennik
SSID ssj0000529419
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Snippet The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat...
Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to...
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StartPage 13772
SubjectTerms 5' Untranslated Regions
631/208/211/2120
631/337
631/45/147
631/45/173
Ataxia
Cell culture
Child development
Cooperation
CRISPR
CRISPR-Cas Systems
Disease
Endocrinology
GDPAG
GLSD
Glutaminase
Glutaminase - genetics
Glutaminase - metabolism
Glutaminase deficiency disorder
Humanities and Social Sciences
Humans
Induced Pluripotent Stem Cells - metabolism
Metabolic disorders
Microsatellite instability
Mismatch repair
Mismatch repair (MMR)
multidisciplinary
MutL Proteins - genetics
MutL Proteins - metabolism
Plasmids
Pluripotency
Polyglutamine
R-loops
Repeat expansion disease
Science
Science (multidisciplinary)
Stem cells
Trinucleotide Repeat Expansion - genetics
Trinucleotide repeats
Yeast
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Title All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency
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Volume 14
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