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Journal articles on the topic 'Trinucleotide repeat instability'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Miret, J. J., L. Pessoa-Brandão, and R. S. Lahue. "Instability of CAG and CTG trinucleotide repeats in Saccharomyces cerevisiae." Molecular and Cellular Biology 17, no. 6 (1997): 3382–87. http://dx.doi.org/10.1128/mcb.17.6.3382.

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A quantitative genetic assay was developed to monitor alterations in tract lengths of trinucleotide repeat sequences in Saccharomyces cerevisiae. Insertion of (CAG)50 or (CTG)50 repeats into a promoter that drives expression of the reporter gene ADE8 results in loss of expression and white colony color. Contractions within the trinucleotide sequences to repeat lengths of 8 to 38 restore functional expression of the reporter, leading to red colony color. Reporter constructs including (CAG)50 or (CTG)50 repeat sequences were integrated into the yeast genome, and the rate of red colony formation

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2

Lahue, Robert S. "DNA repair and trinucleotide repeat instability." Frontiers in Bioscience 8, no. 6 (2003): s653–665. http://dx.doi.org/10.2741/1107.

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3

Nelson, David L., and Stephen T. Warren. "Trinucleotide repeat instability: when and where?" Nature Genetics 4, no. 2 (1993): 107–8. http://dx.doi.org/10.1038/ng0693-107.

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4

Cohen, Haim, Dorothy D. Sears, Drora Zenvirth, Philip Hieter, and Giora Simchen. "Increased Instability of Human CTG Repeat Tracts on Yeast Artificial Chromosomes during Gametogenesis." Molecular and Cellular Biology 19, no. 6 (1999): 4153–58. http://dx.doi.org/10.1128/mcb.19.6.4153.

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ABSTRACT Expansion of trinucleotide repeat tracts has been shown to be associated with numerous human diseases. The mechanism and timing of the expansion events are poorly understood, however. We show that CTG repeats, associated with the human DMPK gene and implanted in two homologous yeast artificial chromosomes (YACs), are very unstable. The instability is 6 to 10 times more pronounced in meiosis than during mitotic division. The influence of meiosis on instability is 4.4 times greater when the second YAC with a repeat tract is not present. Most of the changes we observed in trinucleotide r

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5

Pepers, B. A., J. T. den Dunnen, G.-J. B. van Ommen, and W. M. C. van Roon-Mom. "C01 Trinucleotide repeat instability in Huntington's disease." Journal of Neurology, Neurosurgery & Psychiatry 81, Suppl 1 (2010): A16.1—A16. http://dx.doi.org/10.1136/jnnp.2010.222588.1.

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6

Kovtun, Irina V., and Cynthia T. McMurray. "Features of trinucleotide repeat instability in vivo." Cell Research 18, no. 1 (2008): 198–213. http://dx.doi.org/10.1038/cr.2008.5.

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7

Guo, Jinzhen, Luping Chen, and Guo-Min Li. "DNA mismatch repair in trinucleotide repeat instability." Science China Life Sciences 60, no. 10 (2017): 1087–92. http://dx.doi.org/10.1007/s11427-017-9186-7.

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8

Maurer, D. J., B. L. O'Callaghan, and D. M. Livingston. "Orientation dependence of trinucleotide CAG repeat instability in Saccharomyces cerevisiae." Molecular and Cellular Biology 16, no. 12 (1996): 6617–22. http://dx.doi.org/10.1128/mcb.16.12.6617.

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To examine the chromosomal stability of repetitions of the trinucleotide CAG, we have cloned CAG repeat tracts onto the 3' end of the Saccharomyces cerevisiae ADE2 gene and placed the appended gene into the ARO2 locus of chromosome VII. Examination of chromosomal DNA from sibling colonies arising from clonal expansion of strains harboring repeat tracts showed that repeat tracts often change in length. Most changes in tract length are decreases, but rare increases also occur. Longer tracts are more unstable than smaller tracts. The most unstable tracts, of 80 to 90 repeats, undergo changes at r

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9

Rolfsmeier, Michael L., Michael J. Dixon, Luis Pessoa-Brandão, Richard Pelletier, Juan José Miret, and Robert S. Lahue. "Cis-Elements Governing Trinucleotide Repeat Instability in Saccharomyces cerevisiae." Genetics 157, no. 4 (2001): 1569–79. http://dx.doi.org/10.1093/genetics/157.4.1569.

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Abstract Trinucleotide repeat (TNR) instability in humans is governed by unique cis-elements. One element is a threshold, or minimal repeat length, conferring frequent mutations. Since thresholds have not been directly demonstrated in model systems, their molecular nature remains uncertain. Another element is sequence specificity. Unstable TNR sequences are almost always CNG, whose hairpin-forming ability is thought to promote instability by inhibiting DNA repair. To understand these cis-elements further, TNR expansions and contractions were monitored by yeast genetic assays. A threshold of ∼1

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10

McMurray, Cynthia T. "Mechanisms of trinucleotide repeat instability during human development." Nature Reviews Genetics 11, no. 11 (2010): 786–99. http://dx.doi.org/10.1038/nrg2828.

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11

Kaytor, M. D., E. N. Burright, L. A. Duvick, H. Y. Zoghbi, and H. T. Orr. "Increased Trinucleotide Repeat Instability with Advanced Maternal Age." Human Molecular Genetics 6, no. 12 (1997): 2135–39. http://dx.doi.org/10.1093/hmg/6.12.2135.

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12

R. La Spada, Albert. "Trinucleotide Repeat Instability: Genetic Features and Molecular Mechanisms." Brain Pathology 7, no. 3 (1997): 943–63. http://dx.doi.org/10.1111/j.1750-3639.1997.tb00895.x.

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13

Lai, Yanhao, Jill M. Beaver, Eduardo Laverde, and Yuan Liu. "Trinucleotide repeat instability via DNA base excision repair." DNA Repair 93 (September 2020): 102912. http://dx.doi.org/10.1016/j.dnarep.2020.102912.

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14

Chatterjee, Nimrat, Yunfu Lin, Beatriz A. Santillan, Patricia Yotnda, and John H. Wilson. "Environmental stress induces trinucleotide repeat mutagenesis in human cells." Proceedings of the National Academy of Sciences 112, no. 12 (2015): 3764–69. http://dx.doi.org/10.1073/pnas.1421917112.

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The dynamic mutability of microsatellite repeats is implicated in the modification of gene function and disease phenotype. Studies of the enhanced instability of long trinucleotide repeats (TNRs)—the cause of multiple human diseases—have revealed a remarkable complexity of mutagenic mechanisms. Here, we show that cold, heat, hypoxic, and oxidative stresses induce mutagenesis of a long CAG repeat tract in human cells. We show that stress-response factors mediate the stress-induced mutagenesis (SIM) of CAG repeats. We show further that SIM of CAG repeats does not involve mismatch repair, nucleot

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15

McMurray, Cynthia T. "Erratum: Mechanisms of trinucleotide repeat instability during human development." Nature Reviews Genetics 11, no. 12 (2010): 886. http://dx.doi.org/10.1038/nrg2917.

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16

Spiro, Craig, and Cynthia T. McMurray. "Nuclease-Deficient FEN-1 Blocks Rad51/BRCA1-Mediated Repair and Causes Trinucleotide Repeat Instability." Molecular and Cellular Biology 23, no. 17 (2003): 6063–74. http://dx.doi.org/10.1128/mcb.23.17.6063-6074.2003.

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ABSTRACT Previous studies have shown that expansion-prone repeats form structures that inhibit human flap endonuclease (FEN-1). We report here that faulty processing by FEN-1 initiates repeat instability in mammalian cells. Disease-length CAG tracts in Huntington's disease mice heterozygous for FEN-1 display a tendency toward expansions over contractions during intergenerational inheritance compared to those in homozygous wild-type mice. Further, with regard to human cells expressing a nuclease-defective FEN-1, we provide direct evidence that an unprocessed FEN-1 substrate is a precursor to in

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17

Dion, Vincent. "Tissue specificity in DNA repair: lessons from trinucleotide repeat instability." Trends in Genetics 30, no. 6 (2014): 220–29. http://dx.doi.org/10.1016/j.tig.2014.04.005.

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18

Potter, N. T. "Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13." Journal of Medical Genetics 34, no. 5 (1997): 411–13. http://dx.doi.org/10.1136/jmg.34.5.411.

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19

Brouwer, Judith Rixt, Aline Huguet, Annie Nicole, Arnold Munnich, and Geneviève Gourdon. "Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus." Journal of Nucleic Acids 2013 (2013): 1–16. http://dx.doi.org/10.1155/2013/567435.

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An expanded CTG-repeat in the 3′ UTR of theDMPKgene is responsible for myotonic dystrophy type I (DM1). Somatic and intergenerational instability cause the disease to become more severe during life and in subsequent generations. Evidence is accumulating that trinucleotide repeat instability and disease progression involve aberrant chromatin dynamics. We explored the chromatin environment in relation to expanded CTG-repeat tracts in hearts from transgenic mice carrying the DM1 locus with different repeat lengths. Using bisulfite sequencing we detected abundant CpG methylation in the regions fla

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20

Gorbunova, Vera, Andrei Seluanov, Vincent Dion, Zoltan Sandor, James L. Meservy, and John H. Wilson. "Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells." Molecular and Cellular Biology 23, no. 13 (2003): 4485–93. http://dx.doi.org/10.1128/mcb.23.13.4485-4493.2003.

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ABSTRACT Despite substantial progress in understanding the mechanism by which expanded CTG/CAG trinucleotide repeats cause neurodegenerative diseases, little is known about the basis for repeat instability itself. By taking advantage of a novel phenomenon, we have developed a selectable assay to detect contractions of CTG/CAG triplets. When inserted into an intron in the APRT gene or the HPRT minigene, long tracts of CTG/CAG repeats (more than about 33 repeat units) are efficiently incorporated into mRNA as a new exon, thereby rendering the encoded protein nonfunctional, whereas short repeat t

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21

Mangin, Antoine, Laure de Pontual, Yu-Chih Tsai, et al. "Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1." International Journal of Molecular Sciences 22, no. 5 (2021): 2616. http://dx.doi.org/10.3390/ijms22052616.

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Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat disorder caused by an unstable CTG repeat expansion, reaching up to 4000 CTG in the most severe cases. The genetic and clinical variability of DM1 depend on the sex and age of the transmitting parent, but also on the CTG repeat number, presence of repeat interruptions and/or on the degree of somatic instability. Currently, it is difficult to simultaneously and accurately determine these contributing factors in DM1 patients due to the limitations of gold standard methods used in molecular diagnostics and resea

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22

Biancalana, V., F. Serville, J. Prommier, J. Julien, A. Hanauer, and J. L. Mandel. "Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy." Human Molecular Genetics 1, no. 4 (1992): 255–58. http://dx.doi.org/10.1093/hmg/1.4.255.

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23

Duyao, M., C. Ambrose, R. Myers, et al. "Trinucleotide repeat length instability and age of onset in Huntington's disease." Nature Genetics 4, no. 4 (1993): 387–92. http://dx.doi.org/10.1038/ng0893-387.

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24

Auer, Rebecca L., Christopher Jones, Roman A. Mullenbach, et al. "Role for CCG-trinucleotide repeats in the pathogenesis of chronic lymphocytic leukemia." Blood 97, no. 2 (2001): 509–15. http://dx.doi.org/10.1182/blood.v97.2.509.

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Abstract Chromosome 11q deletions are frequently observed in chronic lymphocytic leukemia (CLL) in association with progressive disease and a poor prognosis. A minimal region of deletion has been assigned to 11q22-q23. Trinucleotide repeats have been associated with anticipation in disease, and evidence of anticipation has been observed in various malignancies including CLL. Loss of heterozygosity at 11q22-23 is common in a wide range of cancers, suggesting this is an unstable area prone to chromosome breakage. The location of 8 CCG-trinucleotide repeats on 11q was determined by Southern blot

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25

Brown, T. C., J. C. Tarleton, R. C. P. Go, J. W. Longshore, and M. Descartes. "Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles." American Journal of Medical Genetics 73, no. 4 (1997): 447–55. http://dx.doi.org/10.1002/(sici)1096-8628(19971231)73:4<447::aid-ajmg14>3.0.co;2-r.

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26

Ren, Yaou, Yanhao Lai, Eduardo E. Laverde, Ruipeng Lei, Hayley L. Rein та Yuan Liu. "Modulation of trinucleotide repeat instability by DNA polymerase β polymorphic variant R137Q". PLOS ONE 12, № 5 (2017): e0177299. http://dx.doi.org/10.1371/journal.pone.0177299.

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27

Bhattacharyya, Saumitri, Michael L. Rolfsmeier, Michael J. Dixon, Kara Wagoner, and Robert S. Lahue. "Identification of RTG2 as a Modifier Gene for CTG·CAG Repeat Instability in Saccharomyces cerevisiae." Genetics 162, no. 2 (2002): 579–89. http://dx.doi.org/10.1093/genetics/162.2.579.

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Abstract Trinucleotide repeats (TNRs) undergo frequent mutations in families affected by TNR diseases and in model organisms. Much of the instability is conferred in cis by the sequence and length of the triplet tract. Trans-acting factors also modulate TNR instability risk, on the basis of such evidence as parent-of-origin effects. To help identify trans-acting modifiers, a screen was performed to find yeast mutants with altered CTG·CAG repeat mutation frequencies. The RTG2 gene was identified as one such modifier. In rtg2 mutants, expansions of CTG·CAG repeats show a modest increase in rate,

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28

Bhattacharyya, Saumitri, and Robert S. Lahue. "Saccharomyces cerevisiae Srs2 DNA Helicase Selectively Blocks Expansions of Trinucleotide Repeats." Molecular and Cellular Biology 24, no. 17 (2004): 7324–30. http://dx.doi.org/10.1128/mcb.24.17.7324-7330.2004.

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ABSTRACT Trinucleotide repeats (TNRs) undergo frequent mutations in families afflicted with certain neurodegenerative disorders and in model organisms. TNR instability is modulated both by the repeat tract itself and by cellular proteins. Here we identified the Saccharomyces cerevisiae DNA helicase Srs2 as a potent and selective inhibitor of expansions. srs2 mutants had up to 40-fold increased expansion rates of CTG, CAG, and CGG repeats. The expansion phenotype was specific, as mutation rates at dinucleotide repeats, at unique sequences, or for TNR contractions in srs2 mutants were not altere

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29

Laverde, Eduardo E., Yanhao Lai, Fenfei Leng, Lata Balakrishnan, Catherine H. Freudenreich, and Yuan Liu. "R-loops promote trinucleotide repeat deletion through DNA base excision repair enzymatic activities." Journal of Biological Chemistry 295, no. 40 (2020): 13902–13. http://dx.doi.org/10.1074/jbc.ra120.014161.

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Trinucleotide repeat (TNR) expansion and deletion are responsible for over 40 neurodegenerative diseases and associated with cancer. TNRs can undergo somatic instability that is mediated by DNA damage and repair and gene transcription. Recent studies have pointed toward a role for R-loops in causing TNR expansion and deletion, and it has been shown that base excision repair (BER) can result in CAG repeat deletion from R-loops in yeast. However, it remains unknown how BER in R-loops can mediate TNR instability. In this study, using biochemical approaches, we examined BER enzymatic activities an

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30

Mosbach, Valentine, Lucie Poggi, and Guy-Franck Richard. "Trinucleotide repeat instability during double-strand break repair: from mechanisms to gene therapy." Current Genetics 65, no. 1 (2018): 17–28. http://dx.doi.org/10.1007/s00294-018-0865-1.

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31

La Spada, A. "Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability." Human Molecular Genetics 7, no. 6 (1998): 959–67. http://dx.doi.org/10.1093/hmg/7.6.959.

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32

Lenzmeier, B. A., and C. H. Freudenreich. "Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair." Cytogenetic and Genome Research 100, no. 1-4 (2003): 7–24. http://dx.doi.org/10.1159/000072836.

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33

Cleary, John D., Kerrie Nichol, Yuh-Hwa Wang, and Christopher E. Pearson. "Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells." Nature Genetics 31, no. 1 (2002): 37–46. http://dx.doi.org/10.1038/ng870.

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34

Koefoed, Pernille, L. Hasholt, Kirsten Fenger, et al. "Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1." Human Genetics 103, no. 5 (1998): 564. http://dx.doi.org/10.1007/s004390050870.

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35

Xu, Jun, Jenny Chong, and Dong Wang. "Strand-specific effect of Rad26 and TFIIS in rescuing transcriptional arrest by CAG trinucleotide repeat slip-outs." Nucleic Acids Research 49, no. 13 (2021): 7618–27. http://dx.doi.org/10.1093/nar/gkab573.

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Abstract Transcription induced CAG repeat instability is associated with fatal neurological disorders. Genetic approaches found transcription-coupled nucleotide excision repair (TC-NER) factor CSB protein and TFIIS play critical roles in modulating the repeat stability. Here, we took advantage of an in vitro reconstituted yeast transcription system to investigate the underlying mechanism of RNA polymerase II (Pol II) transcriptional pausing/stalling by CAG slip-out structures and the functions of TFIIS and Rad26, the yeast ortholog of CSB, in modulating transcriptional arrest. We identified le

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36

Slean, Meghan M., Gagan B. Panigrahi, Laura P. Ranum, and Christopher E. Pearson. "Mutagenic roles of DNA “repair” proteins in antibody diversity and disease-associated trinucleotide repeat instability." DNA Repair 7, no. 7 (2008): 1135–54. http://dx.doi.org/10.1016/j.dnarep.2008.03.014.

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37

Freudenreich, C. H., J. B. Stavenhagen, and V. A. Zakian. "Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome." Molecular and Cellular Biology 17, no. 4 (1997): 2090–98. http://dx.doi.org/10.1128/mcb.17.4.2090.

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Trinucleotide repeat expansion is the causative mutation for a growing number of diseases including myotonic dystrophy, Huntington's disease, and fragile X syndrome. A (CTG/CAG)130 tract cloned from a myotonic dystrophy patient was inserted in both orientations into the genome of Saccharomyces cerevisiae. This insertion was made either very close to the 5' end or very close to the 3' end of a URA3 transcription unit. Regardless of its orientation, no evidence was found for triplet-mediated transcriptional repression of the nearby gene. However, the stability of the tract correlated with its or

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38

Gray, Steven J., Jeannine Gerhardt, Walter Doerfler, Lawrence E. Small, and Ellen Fanning. "An Origin of DNA Replication in the Promoter Region of the Human Fragile X Mental Retardation (FMR1) Gene." Molecular and Cellular Biology 27, no. 2 (2006): 426–37. http://dx.doi.org/10.1128/mcb.01382-06.

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ABSTRACT Fragile X syndrome, the most common form of inherited mental retardation in males, arises when the normally stable 5 to 50 CGG repeats in the 5′ untranslated region of the fragile X mental retardation protein 1 (FMR1) gene expand to over 200, leading to DNA methylation and silencing of the FMR1 promoter. Although the events that trigger local CGG expansion remain unknown, the stability of trinucleotide repeat tracts is affected by their position relative to an origin of DNA replication in model systems. Origins of DNA replication in the FMR1 locus have not yet been described. Here, we

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39

Zahra, Rabaab, John K. Blackwood, Jill Sales, and David R. F. Leach. "Proofreading and Secondary Structure Processing Determine the Orientation Dependence of CAG·CTG Trinucleotide Repeat Instability inEscherichia coli." Genetics 176, no. 1 (2007): 27–41. http://dx.doi.org/10.1534/genetics.106.069724.

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40

Hubert, Leroy, Yunfu Lin, Vincent Dion, and John H. Wilson. "Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1." Human Molecular Genetics 20, no. 24 (2011): 4822–30. http://dx.doi.org/10.1093/hmg/ddr421.

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41

Kremer, E., M. Pritchard, M. Lynch, et al. "Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n." Science 252, no. 5013 (1991): 1711–14. http://dx.doi.org/10.1126/science.1675488.

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42

Palmirotta, R., F. Guadagni, A. Savonarola, et al. "PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability." Clinical Genetics 79, no. 4 (2011): 397–98. http://dx.doi.org/10.1111/j.1399-0004.2010.01536.x.

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43

Zhao, Xiaonan, Daman Kumari, Carson J. Miller, et al. "Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease." Journal of Huntington's Disease 10, no. 1 (2021): 149–63. http://dx.doi.org/10.3233/jhd-200423.

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Huntington’s disease (HD) is one of a large group of human disorders that are caused by expanded DNA repeats. These repeat expansion disorders can have repeat units of different size and sequence that can be located in any part of the gene and, while the pathological consequences of the expansion can differ widely, there is evidence to suggest that the underlying mutational mechanism may be similar. In the case of HD, the expanded repeat unit is a CAG trinucleotide located in exon 1 of the huntingtin (HTT) gene, resulting in an expanded polyglutamine tract in the huntingtin protein. Expansion

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44

Szwarocka, Sylwia T., Paweł Stączek, and Paweł Parniewski. "Chromosomal model for analysis of a long CTG/CAG tract stability in wild-type Escherichia coli and its nucleotide excision repair mutants." Canadian Journal of Microbiology 53, no. 7 (2007): 860–68. http://dx.doi.org/10.1139/w07-047.

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Many human hereditary neurological diseases, including fragile X syndrome, myotonic dystrophy, and Friedreich’s ataxia, are associated with expansions of the triplet repeat sequences (TRS) (CGG/CCG, CTG/CAG, and GAA/TTC) within or near specific genes. Mechanisms that mediate mutations of TRS include DNA replication, repair, and gene conversion and (or) recombination. The involvement of the repair systems in TRS instability was investigated in Escherichia coli on plasmid models, and the results showed that the deficiency of some nucleotide excision repair (NER) functions dramatically affects th

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45

Seriola, Anna, Claudia Spits, Jodie P. Simard, et al. "Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation." Human Molecular Genetics 20, no. 1 (2010): 176–85. http://dx.doi.org/10.1093/hmg/ddq456.

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46

Mollersen, L., A. D. Rowe, J. L. Illuzzi, et al. "Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice." Human Molecular Genetics 21, no. 22 (2012): 4939–47. http://dx.doi.org/10.1093/hmg/dds337.

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47

Bjerregaard, Victoria A., Lorenza Garribba, Cynthia T. McMurray, Ian D. Hickson, and Ying Liu. "Folate deficiency drives mitotic missegregation of the human FRAXA locus." Proceedings of the National Academy of Sciences 115, no. 51 (2018): 13003–8. http://dx.doi.org/10.1073/pnas.1808377115.

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The instability of chromosome fragile sites is implicated as a causative factor in several human diseases, including cancer [for common fragile sites (CFSs)] and neurological disorders [for rare fragile sites (RFSs)]. Previous studies have indicated that problems arising during DNA replication are the underlying source of this instability. Although the role of replication stress in promoting instability at CFSs is well documented, much less is known about how the fragility of RFSs arises. Many RFSs, as exemplified by expansion of a CGG trinucleotide repeat sequence in the fragile X syndrome-as

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48

Blackwood, J. K., E. A. Okely, R. Zahra, J. K. Eykelenboom, and D. R. F. Leach. "DNA tandem repeat instability in the Escherichia coli chromosome is stimulated by mismatch repair at an adjacent CAG{middle dot}CTG trinucleotide repeat." Proceedings of the National Academy of Sciences 107, no. 52 (2010): 22582–86. http://dx.doi.org/10.1073/pnas.1012906108.

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49

Tarantino, Mary E., Katharina Bilotti, Ji Huang, and Sarah Delaney. "Rate-determining Step of Flap Endonuclease 1 (FEN1) Reflects a Kinetic Bias against Long Flaps and Trinucleotide Repeat Sequences." Journal of Biological Chemistry 290, no. 34 (2015): 21154–62. http://dx.doi.org/10.1074/jbc.m115.666438.

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Flap endonuclease 1 (FEN1) is a structure-specific nuclease responsible for removing 5′-flaps formed during Okazaki fragment maturation and long patch base excision repair. In this work, we use rapid quench flow techniques to examine the rates of 5′-flap removal on DNA substrates of varying length and sequence. Of particular interest are flaps containing trinucleotide repeats (TNR), which have been proposed to affect FEN1 activity and cause genetic instability. We report that FEN1 processes substrates containing flaps of 30 nucleotides or fewer at comparable single-turnover rates. However, for

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50

Hickman, R. A., P. L. Faust, M. K. Rosenblum, K. Marder, M. F. Mehler, and J. P. Vonsattel. "Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains." Acta Neuropathologica 141, no. 3 (2021): 399–413. http://dx.doi.org/10.1007/s00401-021-02269-4.

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AbstractNeuropathologic hallmarks of Huntington Disease (HD) include the progressive neurodegeneration of the striatum and the presence of Huntingtin (HTT) aggregates that result from abnormal polyQ expansion of the HTT gene. Whether the pathogenic trinucleotide repeat expansion of the HTT gene causes neurodevelopmental abnormalities has garnered attention in both murine and human studies; however, documentation of discrete malformations in autopsy brains of HD individuals has yet to be described. We retrospectively searched the New York Brain Bank (discovery cohort) and an independent cohort

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