Mosaicism of the CAG repeat sequence in the huntington disease gene in a pair of monozygotic twins

American Journal of Medical Genetics

Volumn 130 A, Issue 2, 2004, Pages 154-159

  Nørremølle, Anne ^a   Hasholt, Lis ^a   Petersen, Cathrine Bie ^a   Eiberg, Hans ^a   Hasselbalch, Steen G ^b   Gideon, Peter ^b   Nielsen, Jørgen E ^a   Sørensen, Sven Asger ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

Author keywords

Huntington disease; Monozygotic twins; Mosaicism

Indexed keywords

DNA;

ADULT; ALLELE; ARTICLE; BLOOD CELL; CAG REPEAT SEQUENCE; CASE REPORT; CELL LINE; CHEEK MUCOSA; CLINICAL FEATURE; DNA DETERMINATION; HAIR ROOT; HAPLOTYPE; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; MALE; MONOZYGOTIC TWINS; MOSAICISM; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN FIBROBLAST;

ADULT; DNA; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; HAIR; HUMANS; HUNTINGTON DISEASE; MALE; MOSAICISM; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; SKIN; SPERMATOZOA; TRINUCLEOTIDE REPEATS; TWINS, MONOZYGOTIC;

RAPHIA FRATER;

EID: 4644246788     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30128     Document Type: Article

References (33)

1. Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR. 1994. A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3:65-67.
2. Aronin N, Chase K, Young C, Sapp E, Schwarz C, Matta N, Kornreich R, Landwehrmeyer B, Bird E, Beal MF, Vonsattel J-P, Smith T, Carraway R, Boyce FM, Young AB, Penney JB, DiFiglia M. 1995. CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain. Neuron 15:1193-1201.
3. Bendel-Stenzel M, Anderson R, Heasman J, Wylie C. 1998. The origin and migration of primordial germ cells in the mouse. Semin Cell Dev Biol 9:393-400.
4. Benitez J, Robledo M, Ramos C, Ayuso C, Astarloa R, Garcia Yebenes J, Brambati B. 1995. Somatic stability in chorionic villi samples and other Huntington fetal tissues. Hum Genet 96:229-232.
5. Brenner CH. 1997. Symbolic kinship program. Genetics 145:535-542.
6. Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR. 1997. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 60:1202-1210.
7. Cantú JM, Díaz-Gallardo MY, Barros-Núñez P, Figuera LE. 1998. Heteroallelic monozygotic twins and triplets. Am J Med Genet 77:166-167.
8. Chomczynski P, Sacchi N. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159.
9. Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR. 1997. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses. Hum Mol Genet 6:301-309.
10. Coles R, Leggo J, Rubinsztein DC. 1997. Analysis of the 5′ upstream sequence of the Huntington's disease (HD) gene shows 6 new rare alleles which are unrelated to the age at onset of HD. J Med Genet 34:371-374.
11. Dancis J, Silvers DN, Balis ME, Cox RP, Schwartz MS. 1981. Evidence for the derivation of individual hair roots from 3 progenitor cells. Hum Genet 58:414-416.
12. Georgiou N, Bradshaw JL, Chiu E, Tudor A, O'Gorman L, Phillips JG. 1999. Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease. Mov Disord 14:320-325.
13. Giovannone B, Sabbadini G, Di Maio L, Calabrese O, Castaldo I, Frontali M, Novelleto A, Squitieri F. 1997. Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers. Hum Mutat 10:458-464.
14. Gringras P, Chen W. 2001. Mechanisms for differences in monozygous twins. Early Hum Dev 64:105-117.
15. Gusella JF, MacDonald ME. 1996. Trinucleotide instability: A repeating theme in human inherited disorders. Annu Rev Med 47:201-209.
16. Helderman-van den Enden AT, Maaswinkel-Mooij PD, Hoogendoorn E, Willemsen R, Maat-Kievit JA, Losekoot M, Oostra BA. 1999. Monozygotic twin brothers with the fragile X syndrome: Different CGG repeats and different mental capacities. J Med Genet 36:253-257.
17. Kahlem P, Djian P. 2000. The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum. Neurosci Lett 286:203-207.
18. Kono Y, Agawa Y, Watanabe Y, Ohama E, Nanba E, Nakashima K. 1999. Analysis of the CAG repeat number in a patient with Huntington's disease. Intern Med 38:407-411.
19. Kruyer H, Mila M, Glover G, Carbonell P, Ballesta F, Estivill X. 1994. Fragile X syndrome and the (CGG)n mutation: Two families with discordant MZ twins. Am J Hum Genet 54:437-442.
20. Leeflang EP, Zhang L, Tavare S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF, Arnheim N. 1995. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum. Hum Mol Genet 4:1519-1526.
21. Lopez de Munain A, Cobo AM, Huguet E, Marti Masso JF, Johnson K, Baiget M. 1994. CTG trinucleotide repeat variability in identical twins with myotonic dystrophy. Ann Neurol 35:374-375.
22. MacDonald ME, Barnes G, Srinidhi J, Duyao MP, Ambrose CM, Myers RH, Gray J, et al. 1993. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet 30:982-986.
23. Nørremølle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sorensen SA. 1993. Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families. Hum Mol Genet 2:1475-1476.
24. Riess O, Noerremoelle A, Soerensen SA, Epplen JT. 1993. Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease. Hum Mol Genet 2:1523.
25. Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, et al. 1996. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 59:16-22.
26. Rudbeck L, Dissing J. 1998. Rapid, simple alkaline extraction of human genomic DNA from whole blood, buccal epithelial cells, semen, and forensic stains for PCR. Biotechniques 25:588-590:592.
27. Sathasivam K, Woodman B, Mahal A, Bertaux F, Wanker EE, Shima DT, Bates GP. 2001. Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients. Hum Mol Genet 10:2425-2435.
28. Sawa A, Wiegand GW, Cooper J, Margolis RL, Sharp AH, Lawler JF Jr, Greenamyre JT, Snyder SH, Ross CA. 1999. Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization. Nat Med 5:1194-1198.
29. Schmucker B, Seidel J. 1999. Mosaicism for a full mutation and a normal size allele in two fragile X males. Am J Med Genet 84:221-225.
30. Telenius H, Kremer B, Goldberg YP, Theilmann J, Andrew SE, Zeisler J, Adam S, Greenberg C, Ives EJ, Clarke LA, Hayden MR. 1994. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 6:409-414.
31. The Huntington's Disease Collaborative Research Group. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983.
32. Youssoufian H, Pyeritz RE. 2002. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3:748-758.
33. Zühlke C, Riess O, Bockel B, Lange H, Thies U. 1993. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum Mol Genet 2:2063-2067.