Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

Human Genetics

Volumn 99, Issue 5, 1997, Pages 692-695

  Sathasivam, Kirupa ^a   Amaechi, Iheoma ^a   Mangiarini, Laura ^a   Bates, Gillian ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; POLYAMINOACID; REPETITIVE DNA;

ARTICLE; BACTERIOPHAGE LAMBDA; CASE REPORT; CHILD; CLONE; CODON; GENE MUTATION; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; MOLECULAR CLONING; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; TRANSGENIC MOUSE;

EID: 0030897816     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050432     Document Type: Article

References (13)

1. Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, Graham RK, Hayden MR (1993) The relationship between trinucleotide (CAG) repeat length and the clinical features of Huntington's disease. Nat Genet 4:398-403
2. Barron LH, Warner JP, Porteous M, Holloway S, Simpson S, Davidson R, Brock DJH (1993) A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. J Med Genet 30:1003-1007
3. Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet 10:344-350
4. Crauford D, Dodge A (1993) Mutation size and age of onset in Huntington's disease. J Med Genet 30:1008-1011
5. Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, Gray J, Conneally MP, Young A, Penney J, Hollingsworth Z, Shoulson I, Lazzarini A, Falek A, Koroshetz W, Sax D, Bird E, Vonsattel J, Bonilla E, Alvir J, Conde JB, Cha J-H, Dure L, Gomez F, Ramos M, Sanchez-Ramos J, Snodgrass S, Young M de, Wexler N, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson M, Jenkins B, Srinidhi J, Barnes G, Gusella J, MacDonald M (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 4:387-392
6. HDCRG (1993) A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes. Cell 72: 971-983
7. Kang S, Jaworski A, Ohshima K, Wells RD (1995) Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 10:213-218
8. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP (1996) Exon 1 of the Huntington's disease gene containing a highly expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87:493-506
9. n repeats causing Huntington's disease. Hum Mol Genet 2:637
10. Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman J-J, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ A-M, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Jackson A, Kaplan J-C, Losekoot M, MacMillan JC, Morrison P, Trottier Y, Novelletto A, Simpson SA, Theilmann J, Whittaker JL, Folstein SE, Ross CA, Hayden MR (1996) Phenotypic characterisation of individuals with 30-40 CAG repeats in the Huntington's 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
11. Stine OC, Pleasant N, Franz ML, Abbott MH, Folstein SE, Ross CA (1993) Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet 2:1547-1549
12. n repeat length is the sex of the affected parent. Hum Mol Genet 2:1535-1540
13. Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF, Sheer D, Lehrach H (1992) The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. Genomics 14:350-356