CDNAs with long CAG trinucleotide repeats from human brain

Human Genetics

Volumn 100, Issue 1, 1997, Pages 114-122

  Margolis, Russell L ^a   Abraham, Meena R ^a   Gatchell, Shawn B ^a   Li, Shi Hua ^a   Kidwai, Arif S ^a   Breschel, Theresa S ^a   Stine, O Colin ^a   Callahan, Colleen ^a   McInnis, Melvin G ^a   Ross, Christopher A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUTAMINE;

ARTICLE; BRAIN; CHROMOSOME 1; CHROMOSOME 12; CHROMOSOME 16; CHROMOSOME 19; CHROMOSOME 2; CHROMOSOME 20; CHROMOSOME 4; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME 8; CHROMOSOME 9; DNA LIBRARY; FETUS; GENE ISOLATION; GENE MAPPING; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; NEUROLOGIC DISEASE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; X CHROMOSOME;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BRAIN; BRAIN CHEMISTRY; CHROMOSOME MAPPING; DNA, COMPLEMENTARY; FETUS; FRONTAL LOBE; GENE LIBRARY; HETEROZYGOTE; HUMANS; MEMBRANE PROTEINS; MENTAL DISORDERS; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEPTIDES; SEQUENCE HOMOLOGY, AMINO ACID; TRINUCLEOTIDE REPEATS;

ATAXIA;

EID: 0030840917     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050476     Document Type: Article

References (80)

1. Altschul AF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215 : 403-410
2. Barren LH, Warner JP, Porteous M, Holloway S, Simpson S, Davidson R, Brock DJ (1993) A study of the Huntington's disease associated trinucleotide repeat in the Scottish population. J Med Genet 30 : 1003-1007
3. Bonifati V, Fabrizio E, Vanacore N, De Mari M, Meco G (1995) Familial Parkinson's disease: a clinical genetic analysis. Can J Neurol Sci 22 : 272-279
4. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE (1992) 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 68 : 799-808
5. Cairns BR, Henry NL, Kornberg RD (1996) TFG/TAF30/ANC1, a component of the yeast SWI/SNF complex that is similar to the leukemogenic proteins ENL and AF-9. Mol Cell Biol 16 : 3308-3316
6. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, Demichele G, Filla A, Defrutos R, Palau F, Patel PI, Didonato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 : 1423-1427
7. Chamberlain NL, Driver ED, Miesfelf RL (1994) The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 22 : 3181-3186
8. Chotai J, Engstrom C, Ekholm B, son Berg ML, Adolfsson R, Nulander PO (1995) Anticipation in Swedish families with schizophrenia. Psychiatr Genet 5 : 181-186
9. Dubois BL, Naylor SL (1993) Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR. Genomics 16 : 315-319
10. Engstrom C, Thornlund AS, Johansson EL, Langstrom M, Chotai J, Adolfsson R, Nylander PO (1995) Anticipation in unipolar affective disorder. J Affect Disord 35 : 31-40
11. Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67 : 1047-1058
12. Fu Y-H, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, De Jong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255 : 1256-1258
13. Gerber H-P, Seipel K, Georgiev O, Hofferer M, Hug M, Rusconi S, Schaffner W (1994) Transciptional activation modulated by homopolymeric glutamine and proline stretches. Science 263 : 808-811
14. Gorwood P, Leboyer M, Falissard B, Jay M, Rouillon F, Feingold J (1996) Anticipation in schizophrenia: new light on a controversial problem. Am J Psychiatry 153 : 1173-1177
15. Henikoff S, Henikoff JG, Alford WJ, Pietrokovski S (1995) Automated contruction and graphical presentation of protein blocks from unaligned sequences. Gene 163 : 17-26
16. Horwitz M, Goode EL, Jarvik GP (1996) Anticipation in familial leukemia. Am J Hum Genet 59 : 990-998
17. 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
18. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 13 : 196-202
19. Imbert G, Trottier Y, Beckmann J, Mandel JL (1994) The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. Genomics 21 : 667-668
20. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier J-M, Weber C, Mandel J-L, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14 : 285-291
21. Jones C, Penny L, Mattina T, Yu S, Baker E, Voullaire L, Langdon WY, Sutherland GR, Richards RI, Tunnacliffe A (1995) Association of a chromosome deletion syndrome with a fragile site with the proto-oncogene CBL2. Nature 376 : 145-149
22. Kawaguchi Y, Okamoto T, Taniwaki T, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8 : 221-228
23. Keshavan MS, Anderson S, Pettegrew JW (1994) Is schizophrenia due to excessive synaptic pruning in the prefrontal cortex? The Feinberg hypothesis revisited. J Psychiatr Res 28 : 239-265
24. Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middletonprice HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74 : 127-134
25. Koide R, Ikeuchi T, 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 (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6 : 9-12
26. Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252 : 1711-1714
27. LaBuda MC, Fletcher NA, Korczyn AD, Inzelberg R, Harding AE, Pauls DL (1993) Genomic imprinting and anticipation in idiopathic torsion dystonia. Neurology 43 : 2040-2043
28. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 : 77-79
29. Lawrence CE, Altschul SF, Boguski MS, Liu JS, Neuwald AF, Wooton JC (1993) Detecting subtle sequence signals: a Gibbs sampling strategy for multiple alignment. Science 262 : 208-214
30. Li S-H, McInnis MG, Margolis RL, Antonarakis SE, Ross CA (1993) Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16 : 572-579
31. Linblad K, Schalling M (1996) Clinical implications of unstalbe DNA repeat sequences. Acta Paediatrica 85 : 265-271
32. Linblad K, Savontaus M-L, Stevanin G, Holmberg M, Digre K, Zander C, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M (1996) CAG repeat expansions in SCA7. Am J Hum Genet 59 : A269
33. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Nelville C, Narang M, Barcelo J, O'Hoy K, Leblond S, Earle-MacDonald J, DeJong PJ, Wieringa B, Korneluk RG (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255 : 1253-1255
34. Margolis RL, Chuang D-M, Post RM (1994) Programmed cell death: implications for neuropsychiatric disorders. Biol Psychiatry 35 : 946-956
35. Margolis RL, Breschel TS, Li S-H, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA (1995a) Identification and characteri-zation of cDNA clones containing CCA trinucleotide repeats derived from human brain. Somat Cell Mol Genet 21 : 279-284
36. Margolis RL, Breschel TS, Li S-H, Kidwai AS, McInnis MG, Ross CA (1995b) Polymorphic (AAT)n trinucleotide repeats derived from a human brain cDNA library. Hum Genet 495-496
37. Margolis RL, Stine OC, McInnis MG, Ranen NG, Rubinsztein DC, Leggo J, Jones Brando LV, Kidwai AS, Loev SJ, Breschel TS, Callahan C, Simpson SG, Depaulo JR, McMahon FJ, Jain S, Paykel ES, Walsh C, DeLisi LE, Crow TJ, Torrey EF, Ashworth RG, Macke JP, Nathans J, Ross CA (1996) cDNA cloning of a human homologue of the Caenorhabiditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. Hum Mol Genet 5 : 607-616
38. Markopoulou K, Wszolek ZK, Pfeiffe RF (1995) A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol 38 : 373-378
39. McDermott E, Khan MA, Deighton C (1996) Further evidence for genetic anticipation in familial rheumatoid arthritis. Ann Rheum Dis 55 : 475-477
40. McInnis MG (1996) Anticipation: an old idea in new genes. Am J Hum Genet 59 : 973-979
41. McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA, DePaulo JR (1993) Anticipation in bipolar affective disorder. Am J Hum Genet 53 : 385-390
42. Morrison AW (1995) Anticipation in Meniere's disease. J Laryngol Otol 109 : 499-502
43. Nagufuchi 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, Osamu K, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994) Expansion of an unstable CAG trinucleotide on chromosome 12p in dentatorubral and pallidoluysian atrophy. Nat Genet 6 : 14-17
44. Neri C, Albanese V, Lebre A-S, Holbert S, Saada C, Bougueleret L, Meier-Ewert S, Le Gall I, Millasseau P, Bui H, Giudicelli C, Massart C, Guillou S, Gervy P, Poullier E, Rigault P, Weissenbach J, Lennon G, Chumakov I, Dauseet J, Lehrach H, Cohen D, Cann HM (1996) Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders. Hum Mol Genet 5 : 1001-1009
45. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID (1996) Holt-Oram syndrome: a clinical genetic study. J Med Genet 33 : 300-307
46. Nylander PO, Engstrom C, Chotai J, Wahlstrom J, Adolfsson R (1994) Anticipation in Swedish families with bipolar affective disorder. J Med Genet 31 : 686-689
47. O'Donovan MC, Guy C, Craddock N, Murphy KC, Cardno AG, Jones LA, Owen MJ, McGuffin P (1995) Expanded CAG repeats in schizoprenia and bipolar disorder. Nat Genet 10 : 380-381
48. Orr HT, Chung M-Y, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY (1993) Expansion of an unstable trinucleotide repeat in spinocerebellar ataxia type 1. Nat Genet 4 : 221-226
49. Ott J (1991) Analysis of human genetic linkage, 2nd edn. The Johns Hopkins University Press, Baltimore
50. Paulson HL, Fischbeck KH (1996) Trinucleotide repeats in neurogenetic disorders. Annu Rev Neurosci 19 : 79-107
51. Payami H, Bernard S, Larsen K, Kaye J, Nutt J (1995) Genetic anticipation in Parkinson's disease. Neurology 45 : 135-138
52. Pearson WR, Lipman DJ (1988) Improved tools for biological squence analysis. Proc Natl Acad Sci USA 85 : 2444-2448
53. Peterson BS (1995) Neuroimaging in child and adolescent neuropsychiatric disorders. J Acad Child Adolesc Psychiatry 34 : 1560-1576
54. Pietrokovski (1996) Searching databases of conserved sequence regions by aligning protein multiple-alignments. Nucleic Acids Res24 : 3836-3845
55. Plante-Bordeneuve V, Taussig D, Thomas F, Ziegler M, Said G (1995) A clinical and genetic study of familial cases of Parkinson's disease. J Neurol Sci 133 : 164-172
56. Polito JM, Rees RC, Childs B, Mendeloff AI, Harris ML, Bayless TM (1996) Preliminary evidence for genetic anticipation in Crohn's disease. Lancet 347 : 798-800
57. Prasad R, Canaani O, Kamada N, Gale RP, Lange B, Crist WM, Nowell PC et al. (1993) Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. Proc Natl Acad Sci USA 90 : 4631-4635
58. Pulst S-M, Nechiporuk A, Nechiporuk T, Gispert S, Chen X-N, Lpes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14 : 269-276
59. Ranum LP, Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT (1995) Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 57 : 603-608
60. Raskind WR, Pericak-Vance MA, Lennon F, Wolff J, Lipe HP, Bird TD (1997) Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am J Med Genet 74 : 26-36
61. Ross CA (1995) When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15 : 493-496
62. Ross CA, Pearlson GD (1996) Schizophrenia, the heteromodal association neocortex and development: potential for a neurogenetic approach. Trends Neurosci 19 : 171-176
63. Ross CA, McInnis MG, Margolis RL, Li S-H (1993) Genes with triplet repeats: candidate mediators of neuropsychiatrie disorders. Trends Neurosci 16 : 254-260
64. Sanpai K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14 : 277-284
65. Schalling M, Hudson TJ, Buetow KH, Housman DE (1993) Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 4 : 135-139
66. Schuler GD, et al (1996) A gene map of the human genome. Science 274 : 540-546
67. Spana EP, Roe CQ (1996) Numb antagonizes notch signaling to specify sibling neuron fates. Neuron 17 : 21-26
68. Stine OC (1993) Is autism associated with an X-linked trinucleotide repeat? Psychiatr Genet 3 : 129
69. Stober G, Franzek E, Lesch KP, Beckmann H (1995) Periodic catatonia: a schizophrenic subtype with major gene effect and anticipation. Eur Arch Psychiatry Clin Neurosci 245 : 135-141
70. Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D (1996) Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 39 : 744-748
71. Thibaut F, Martinez M, Petit M, Jay M, Campion D (1995) Further evidence for anticipation in schizophrenia. Psychiatry Res 59 : 25-33
72. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378 : 403-406
73. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, Ommen van G-JB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST (1991) Identification of a gene (FMR-1) containing CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell 65 : 905-914
74. Weinberger DR (1995) From neuropathology to neurodevelopment. Lancet 346 : 552-557
75. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, Lathrop M (1992) A second-generation linkage map of the human genome. Nature 359 : 794-801
76. Welch MD, Drubin DG (1994) A nuclear protein with sequence similarity to proteins implicated in human acute leukemias is important for cellular morphogenesis and actin cytoskeletal function in Saccharomyces cerevisiae. Mol Biol Cell 5 : 617-632
77. Yamagata K, Takeda J, Menzel S, Chen X, Eng S, Lim LR, Concannon P, Hanis CL, Spielman RS, Cox NJ, Bell GI (1996) Searching for NIDDM suscpetibility genes: studies of genes with triplet repeats expressed in skeletal muscle. Diabetologia 39 : 725-730
78. Zhong W, Feder JN, Jiang M-M, Jan LY, Jan YN (1996) Asymmetric localization of a mammalian numb homolog during mouse cortical neurogenesis. Neuron 17 : 43-53
79. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the a1A-voltage dependent calcium channel. Nat Genet 15 : 62-69
80. Zoghbi HY (1996) The expanding world of ataxins. Nat Genet 14 : 237-238