CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation

Molecular Human Reproduction

Volumn 14, Issue 7, 2008, Pages 405-412

  De Temmerman, N ^a   Seneca, S ^a,b   Van Steirteghem, A ^a,b   Haentjens, P ^a,b   Van der Elst, J ^a,c   Liebaers, I ^a,b   Sermon, Karen D ^a,b  

^a VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

Author keywords

DMPK; Human embryonic stem cells; Myotonic dystrophy type 1; Triplet repeat instability

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE;

3' UNTRANSLATED REGION; ARTICLE; CELL CULTURE; CONTROLLED STUDY; EMBRYO; EMBRYONIC STEM CELL; GENE MUTATION; GENETIC VARIABILITY; GENOMIC INSTABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

BLOTTING, SOUTHERN; CELL LINE; EMBRYONIC STEM CELLS; GENOMIC INSTABILITY; HUMANS; MUTATION; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 47249136157     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gan034     Document Type: Article

References (36)

1. Allegrucci C, Wu YZ, Thurston A, Denning CN, Priddle H, Mummery CL, Ward-van Oostwaard D, Andrews PW, Stojkovic M, Smith N et al. Restriction landmark genome scanning identifies culture-induced DNA methylation instability in the human embryonic stem cell epigenome. Hum Mol Genet 2007;16:1253-1268.
2. Ashizawa T, Monckton DG, Vaishnav S, Patel BJ, Voskova A, Caskey CT. Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy. Genomics 1996;36:47-53.
3. Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, Chen C, Alleman J, Wormskamp NG, Vooijs M et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:548-551.
4. Brivanlou AH, Gage FH, Jaenisch R, Jessell T, Melton D, Rossant J. Stem cells. Setting standards for human embryonic stem cells. Science 2003;300: 913-916.
5. Brook FA, Gardner RL. The origin and efficient derivation of embryonic stem cells in the mouse. Proc Natl Acad Sci USA 1997;94 5709-5712.
6. Brook JD, McCurrach W, Harley AG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;69:385.
7. Cleary JD, Pearson CE. The contribution of cis-elements to disease-associated repeat instability: Clinical and experimental evidence. Cytogenet Genome Res 2003;100:25-55.
8. Cowan CA, Klimanskaya I, McMahon J, Atienza J, Witmyer J, Zucker JP, Wang S, Morton CC, McMahon AP, Powers D et al. Derivation of embryonic stem-cell lines from human blastocysts. N Engl J Med 2004;350:1353-1356.
9. De Temmerman N, Sermon K, Seneca S, De Rycke M, Hilven P, Lissens W, Van Steirteghem A, Liebaers I. Intergenerational instability of the expanded CTG repeat in the DMPK gene: Studies in human gametes and preimplantation embryos. Am J Hum Genet 2004;75:325-329.
10. Dean NL, Tan SL, Ao A. Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos. Fertil Steril 2006;86:98-105.
11. Fu YH, Pizzuti A, Fenwick RG, Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
12. Gomes-Pereira M, Fortune MT, Monckton DG. Mouse tissue culture models of unstable triplet repeats: In vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Hum Mol Genet 2001;10:845-854.
13. Gomes-Pereira M, Fortune MT, Ingram L, McAbney JP, Monckton DG. 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.
14. Goossens V, Sermon K, Lissens W, De Rycke M, Saerens B, De Vos A, Henderix P, Van de Velde H, Platteau P, Van Steirteghem A et al. Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the deltaF508 mutation. Mol Hum Reprod 2003;9:559-567.
15. Gosden C, Davidson C, Robertson M. Lymphocyte culture. In: Rooney DE, Czepulkowsky BH (eds). Human Cytogenetics. Oxford, UK: Oxford University Press, 1992,37-47.
16. Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Howeler C, Brunner H, Wieringa B. Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575-585.
17. Kehler J, Hubner K, Garrett S, Scholer HR. Generating oocytes and sperm from embryonic stem cells. Semin Reprod Med 2005;23:222-233.
18. Khajavi M, Tari AM, Patel NB, Tsuji K, Siwak DR, Meistrich ML, Terry NH, Ashizawa T. "Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum Mol Genet 2001;10:855-863.
19. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K et al. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-1255.
20. Manley K, Shirley TL, Flaherty L, Messer A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 1999;23:471-473.
21. Martorell L, Johnson K, Boucher CA, Baiget M. Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet 1997;6:877-880.
22. Martorell L, Monckton DG, Sanchez A, Lopez De Munain A, Baiget M. Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 2001;56:328-335.
23. Mateizel I, De Temmerman N, Ullmann U, Cauffman G, Sermon K, Van de Velde H, De Rycke M, Degreef E, Devroey P, Liebaers I et al. Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders. Hum Reprod 2006;21:503-511.
24. Monckton DG, Wong LJ, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses. Hum Mol Genet 1995;4:1-8.
25. Pearson CE, Nichol Edamura K, Cleary JD. Repeat instability: Mechanisms of dynamic mutations. Nat Rev Genet 2005;6:729-742.
26. Pickering SJ, Braude PR, Patel M, Burns CJ, Trussler J, Bolton V, Minger S. Preimplantation genetic diagnosis as a novel source of embryos for stem cell research. Reprod Biomed Online 2003;7:353-364.
27. Pickering SJ, Minger SL, Patel M, Taylor H, Black C, Burns CJ, Ekonomou A, Braude PR. Generation of a human embryonic stem cell line encoding the cystic fibrosis mutation deltaF508, using preimplantation genetic diagnosis. Reprod Biomed Online 2005;10:390-397.
28. Savouret C, Brisson E, Essers J, Kanaar R, Pastink A, te Riele H, Junien C, Gourdon G. CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J 2003;22:2264-2273.
29. Skottman H, Mikkola M, Lundin K, Olsson C, Strömberg AM, Tuuri T, Otonkoski T, Hovatta O, Lahesmaa R. Gene expression signatures of seven individual human embryonic stem cell lines. Stem Cells 2005;23 1343-1356.
30. Thomson JA, Itskovitz-Eldor J, Shapiro SS, Waknitz MA, Swiergiel JJ, Marshall VS, Jones JM. Embryonic stem cell lines derived from human blastocysts. Science 1998;282:1145-1147.
31. van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B. Somatic expansion behavior 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.
32. Verlinsky Y, Strelchenko N, Kukharenko V, Shkumatov A, Rechitsky S, Verlinsky O, Kuliev A. Repository of human embryonic stem cell lines and development of individual specific lines using stembrid technology. Reprod Biomed Online 2006;13:547-550.
33. Wöhrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum Mol Genet 1995;4:1147-1153.
34. Wong LJ, Ashizawa T, Monckton DG, Caskey CT, Richards CS. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 1995;56:114-122.
35. Yoon SR, Dubeau L, de Young M, Wexler NS, Amheim N. Huntington disease expansion mutations in humans can occur before meiosis is completed. Proc Natl Acad Sci USA 2003;100:8834-8838.
36. Zwaka TP, Thomson JA. A germ cell origin of embryonic stem cells? Development 2005;132:227-233.