Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells

American Journal of Human Genetics

Volumn 76, Issue 2, 2005, Pages 302-311

  Edamura, Kerrie Nichol ^a   Leonard, Michelle R ^a,b   Pearson, Christopher E ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CPG ISLAND; DNA METHYLATION; DNA REPLICATION; DNA STRAND; DNA TEMPLATE; FRAGILE X SYNDROME; GENE DELETION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIMATE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ANIMALIA; PRIMATES;

EID: 12344284907     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/427928     Document Type: Article

References (41)

1. Astolfi P, Bellizzi D, Sgaramella V (2003) Frequency and coverage of trinucleotide repeats in eukaryotes. Gene 317:117-125
2. 98 repeat in the Fmr1 promoter. Hum Mol Genet 10:1693-1699
3. Cleary JD, Nichol K, Wang YH, Pearson CE (2002) Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat Genet 31:37-46
4. Cordeiro-Stone M, Zaritskaya LS, Price LK, Kaufmann WK (1997) Replication fork bypass of a pyrimidine dimer blocking leading strand DNA synthesis. J Biol Chem 272:13945-13954
5. Devys D, Biancalana V, Rousseau F, Boue J, Mandel JL, Oberle I (1992) Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet 43:208-216
6. Gluzman Y (1981) SV40-transformed simian cells support the replication of early SV40 mutants. Cell 23:175-182
7. Goto T, Wright E, Monk M (1997) Paternal X-chromosome inactivation in human trophoblastic cells. Mol Hum Reprod 3:77-80
8. Hansen RS, Canfield TK, Lamb MM, Gartler SM, Laird CD (1993) Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell 73:1403-1409
9. Hay RT, DePamphilis ML (1982) Initiation of SV40 DNA replication in vivo: location and structure of 5′ ends of DNA synthesized in the ori region. Cell 28:767-779
10. Hirst MC, White PJ (1998) Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure. Nucleic Acids Res 26:2353-2358
11. Hirt B (1967) Selective extraction of polyoma DNA from infected mouse cell cultures. J Mol Biol 26:365-369
12. Howell RT, McDermott A (1982) Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females. Hum Genet 62:282-284
13. Hyrien O, Maric C, Mechali M (1995) Transition in specification of embryonic metazoan DNA replication origins. Science 270:994-997
14. Krasilnikova MM, Mirkin SM (2004) Analysis of triplet repeat replication by two-dimensional gel electrophoresis. Methods Mol Biol 277:19-28
15. Lavedan C, Grabczyk E, Usdin K, Nussbaum RL (1998) Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics 50:229-240
16. Malter HE, Iber JC, Willemsen R, de Graaff E, Tarleton JC, Leisti J, Warren ST, Oostra BA (1997) Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet 15:165-169
17. Martorell L, Martinez JM, Carey N, Johnson K, Baiget M (1995) Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet 32:593-596
18. 2+. Nucleic Acids Res 22:5354-5359
19. Moutou C, Vincent MC, Biancalana V, Mandel JL (1997) Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. Hum Mol Genet 6:971-979
20. Nichol K, Pearson CE (2002) CpG methylation modifies the genetic stability of cloned repeat sequences. Genome Res 12:1246-1256
21. Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Vaisanen ML, von Koskull H, Sherman SL (2003) Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72:454-464
22. Pearson CE (2003) Slipping while sleeping? trinucleotide repeat expansions in germ cells. Trends Mol Med 9:490-495
23. Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR (1998) Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37:2701-2708
24. Peier AM, Nelson DL (2002) Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics 80:423-432
25. Pelletier R, Krasilnikova MM, Samadashwily GM, Lahue R, Mirkin SM (2003) Replication and expansion of trinucleotide repeats in yeast. Mol Cell Biol 23:1349-1357
26. Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ (1999) Postmortem examination of two fragile X brothers with an FMR1 full mutation. Am J Med Genet 84:245-249
27. Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk AJ, Jorens HZ, Darby JK, Oostra B, et al (1993) The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet 4:143-146
28. Rife M, Badenas C, Quinto L, Puigoriol E, Tazon B, Rodriguez-Revenga L, Jimenez L, Sanchez A, Mila M (2004) Analysis of CGG variation through 642 meioses in fragile X families. Mol Hum Reprod 10:773-776
29. Samadashwily GM, Raca G, Mirkin SM (1997) Trinucleotide repeats affect DNA replication in vivo. Nat Genet 17:298-304
30. Sasaki T, Sawado T, Yamaguchi M, Shinomiya T (1999) Specification of regions of DNA replication initiation during embryogenesis in the 65-kilobase DNApolα-dE2F locus of Drosophila melanogaster. Mol Cell Biol 19:547-555
31. Shimizu M, Gellibolian R, Oostra BA, Wells RD (1996) Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. J Mol Biol 258:614-626
32. Subramanian PS, Nelson DL, Chinault AC (1996) Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am J Hum Genet 59:407-416
33. Sutton KA (2000) Molecular mechanisms involved in the differentiation of spermatogenic stem cells. Rev Reprod 5:93-98
34. Tamanini F, Willemsen R, van Unen L, Bontekoe C, Galjaard H, Oostra BA, Hoogeveen AT (1997) Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet 6:1315-1322
35. Tassone F, Hagerman RJ, Gane LW, Taylor AK (1999) Strong similarities of the FMR1 mutation in multiple tissues: post-mortem studies of a male with a full mutation and a male carrier of a premutation. Am J Med Genet 84:240-244
36. Taylor AK, Tassone F, Dyer PN, Hersch SM, Harris JB, Greenough WT, Hagerman RJ (1999) Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. Am J Med Genet 84:233-239
37. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
38. n triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol Cell Biol 19:5675-5684
39. Wohrle D, Hennig I, Vogel W, Steinbach P (1993) Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet 4:140-142
40. Wohrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P (1995) Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum Mol Genet 4:1147-1153
41. Wohrle D, Salat U, Glaser D, Mucke J, Meisel-Stosiek M, Schindler D, Vogel W, Steinbach P (1998) Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. J Med Genet 35:103-111