Verification of somatic CAG repeat expansion by pre-PCR fractionation

Journal of Neuroscience Methods

Volumn 144, Issue 1, 2005, Pages 11-17

  Hunter, Jesse M ^a,b,c   Crouse, Andrew B ^b   Lesort, Mathieu ^a,c   Johnson, Gail V W ^a,c   Detloff, Peter J ^b  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

PCR; Polyglutamine; Repeat instability; Shadow band; Trinucleotide

Indexed keywords

CYSTEINYLALANYLGLYCINE; PEPTIDE DERIVATIVE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BRAIN; CONTROLLED STUDY; FRACTIONATION; KNOCKOUT MOUSE; MOUSE; NONHUMAN; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT;

EID: 17444424273     PISSN: 01650270     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jneumeth.2004.10.006     Document Type: Article

References (32)

1. M.B. Bogdanov, O.A. Andreassen, A. Dedeoglu, R.J. Ferrante, and M.F. Beal Increased oxidative damage to DNA in a transgenic mouse model of Huntington's disease J Neurochem 79 2001 1246 1249
2. N.J. Butterworth, L. Williams, J.Y. Bullock, D.R. Love, R.L. Faull, and M. Dragunow (CAG) repeat length is positively correlated with the degree of DNA fragmentation in Huntington's disease striatum Neuroscience 87 1998 49 53
3. K.E. De Rooij, P.A. De Koning Gans, R.A. Roos, G.J. Van Ommen, and J.T. Den Dunnen Somatic expansion of the (CAG)n repeat in Huntington disease brains Hum Genet 95 1995 270 274
4. M. Dragunow, R.L. Faull, P. Lawlor, E.J. Beilharz, K. Singleton, and E.B. Walker In situ evidence for DNA fragmentation in Huntington's disease striatum and Alzheimer's disease temporal lobes Neuroreport 6 1995 1053 1057
5. P. Giuliano, T. De Cristofaro, A. Affaitati, G.M. Pizzulo, A. Feliciello, and C. Criscuolo DNA damage induced by polyglutamine-expanded proteins Hum Mol Genet 12 2003 2301 2309
6. M. Gomes-Pereira, M.T. Fortune, L. Ingram, J.P. McAbney, and D.G. Monckton Pms2 is a genetic enhancer of trinucleotide CAG. CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion Hum Mol Genet 13 2004 1815 1825
7. G. Gourdon, F. Radvanyi, A.S. Lia, C. Duros, M. Blanche, and M. Abitbol Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice Nat Genet 15 1997 190 192
8. J.F. Gusella, S. McNeil, F. Persichetti, J. Srinidhi, A. Nevelletto, and E. Bird Huntington's disease Cold Spring Harbor Symp 61 1996 615 626
9. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72:971-983.
10. H. Ishiguro, K. Yamada, H. Sawada, K. Nishii, N. Ichino, and M. Sawada Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene J Neurosci Res 65 2001 289 297
11. A.J. Jeffreys, and R. Neumann Somatic mutation processes at a human minisatellite Hum Mol Genet 6 129-132; 1997 134 136
12. A.J. Jeffreys, R. Neumann, and V. Wilson Repeat unit sequence variation in minisatellites: a novel source of DNA polymorphism for studying variation and mutation by single molecule analysis Cell 60 1990 473 485
13. L. Kennedy, and P.F. Shelbourne Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum Mol Genet 9 2000 2539 2544
14. L. Kennedy, E. Evans, C.M. Chen, L. Craven, P.J. Detloff, and M. Ennis Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis Hum Mol Genet 12 2003 3359 3367
15. B. Kremer Clinical neurology of Huntington's disease G. Bates P. Harper L. Jones Huntington's Disease 2002 Oxford University Press Oxford 28 61
16. C-H. Lin, S. Tallaksen-Greene, W-M. Chein, J.A. Cearley, W.S. Jackson, and A.B. Crouse Neurological abnormalities in a knock-in mouse model of Huntington's disease Hum Mol Genet 10 2001 137 144
17. M.E. MacDonald, G. Barnes, J. Srinidhi, M.P. Duyao, C.M. Ambrose, and R.H. Myers Gametic but not somatic instability of CAG repeat length in Huntington's disease J Med Genet 30 1993 982 986
18. L. Mangiarini, K. Sathasivam, A. Mahal, R. Mott, M. Seller, and G.P. Bates Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation Nat Genet 15 1997 197 200
19. C.T. McMurray DNA secondary structure: a common and causative factor for expansion in human disease. Proc Natl Acad Sci USA 96 1999 1823 1825
20. D.G. Monckton, L.J. Wong, T. Ashizawa, and C.T. Caskey Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses Hum Mol Genet 4 1995 1 8
21. D.G. Monckton, M.I. Coolbaugh, K.T. Ashizawa, M.J. Siciliano, and C.T. Caskey Hypermutable myotonic dystrophy CTG repeats in transgenic mice Nat Genet 15 1997 193 196
22. H. Moore, P.W. Greenwell, C.P. Liu, N. Arnheim, and T.D. Petes Triplet repeats form secondary structures that escape DNA repair in yeast Proc Natl Acad Sci USA 96 1999 1504 1509
23. G.L. Mutter, and K.A. Boynton PCR bias in amplification of androgen receptor alleles, a trinucleotide repeat marker used in clonality studies Nucleic Acids Res 23 1995 1411 1418
24. J.M. Ordway, and P.J. Detloff In vitro synthesis and cloning of long CAG repeats Biotechniques 21 1996 609 610
25. P. Parniewski, and P. Staczek Molecular mechanisms of TRS instability Adv Exp Med Biol 516 2002 1 25
26. C. Portera-Cailliau, J.C. Hedreen, D.L. Price, and V.E. Koliatsos Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models J Neurosci 15 1995 3775 3787
27. C. Spiro, and C.T. McMurray Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability Mol Cell Biol 23 2003 6063 6074
28. W.M. Strauss Preparation of Genomic DNA from Mammalian Tissue F.M. Ausubel R. Brent R.E. Kingston D.D. Moore J.A. Seidman J.A. Smith K. Struhl F.M. Ausubel R. Brent R.E. Kingston D.D. Moore J.A. Seidman J.A. Smith F.M. Struhl KAusubel R. Brent R.E. Kingston D.D. Moore J.A. Seidman J.A. Smith K. Struhl Current Protocols in Molecular Biology 1998 John Wiley & Sons, Inc 2.2.1 2.2.3
29. H. Telenius, B. Kremer, Y.P. Goldberg, J. Theilmann, S.E. Andrew, and J. Zeisler Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm Nat Genet 6 1994 409 414
30. L.B. Thomas, D.J. Gates, E.K. Richfield, T.F. O'Brien, J.B. Schweitzer, and D.A. Steindler DNA end labeling (TUNEL) in Huntington's disease and other neuropathological conditions Exp Neurol 133 1995 265 272
31. V.C. Wheeler, L.A. Lebel, V. Vrbanac, A. Teed, H. te Riele, and M.E. MacDonald Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum Hum Mol Genet 12 2003 273 281
32. V.C. Wheeler, W. Auerbach, J.K. White, J. Srinidhi, A. Auerbach, and A. Ryan Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse Hum Mol Genet 8 1999 115 122