(CTG)n expansions in various tissues from a myotonic dystrophy patient

Muscle and Nerve

Volumn 19, Issue 2, 1996, Pages 240-242

  Kinoshita, Masanobu ^a,f   Takahashi, Ryosuke ^b   Hasegawa, Takashi ^c   Komori, Tetsuo ^d   Nagasawa, Ryuji ^a   Hirose, Kazuhiko ^e   Tanabe, Hitoshi ^d  

^a SAITAMA MEDICAL UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^e TOKYO METROPOLITAN TAMA MEDICAL CENTER   (Japan)

^f SAITAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

(CTG)n triplet repeats; Cerebellum; Myotonic dystrophy; Somatic instability; Southern blot analysis

Indexed keywords

DNA; PROTEIN KINASE;

ADULT; ARTICLE; HUMAN; HUMAN TISSUE; MALE; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ADULT; BLOTTING, SOUTHERN; GENE EXPRESSION; HUMANS; MALE; MYOTONIC DYSTROPHY; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0030071077     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199602)19:2<240::AID-MUS21>3.0.CO;2-X     Document Type: Article

References (12)

1. Ashizawa T, Dubel JR, Harati Y: Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993;43: 2674-2678.
2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion J-P, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE: 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;68: 799-808.
3. Buxton J, Shelbourne P, Davies J, Jones C, Tongeren TV, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, Williamson R, Johnson K: Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-548.
4. Harper PS: Myotonic dystrophy, the clinical picture, in Haper PS (ed): Myotonic Dystrophy. London, W.B. Saunders, 1989, pp 13-36.
5. The 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.
6. n repeat variation and selection against extreme expansion in sperm. Am J Hum Gent 1994; 54:575-585.
7. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-228.
8. Koide R, Ikeuchi K, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S: Unstable expansion of the CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 1994;6:9-13.
9. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes J-P, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C: Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 1993;52:875-883.
10. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M: Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 1994; 6:14-18.
11. Telenius H, Kremer B, Goldberg YP, Thielmann J, Andrew SE, Zeisler J, Adam S, Greenberg C, Ives EJ, Clarke LA, Hayden MR: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet 1994;6:409-414.
12. Thornton CA, Johnson K, Moxley RT III: Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 1994;35:104-107.