A -16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Journal of Human Genetics

Volumn 51, Issue 5, 2006, Pages 461-466

  Ohata, Takako ^a,b   Yoshida, Kunihiro ^a,c,d   Sakai, Haruya ^a   Hamanoue, Haruka ^a   Mizuguchi, Takeshi ^a   Shimizu, Yusaku ^c   Okano, Tomomi ^c   Takada, Fumio ^b   Ishikawa, Kinya ^e   Mizusawa, Hidehiro ^e   Yoshiura, Ko Ichiro ^f   Fukushima, Yoshimitsu ^d   Ikeda, Shu Ichi ^c   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b KITASATO UNIVERSITY   (Japan)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d SHINSHU UNIVERSITY HOSPITAL   (Japan)

^e TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^f NAGASAKI UNIVERSITY   (Japan)

Author keywords

16q22 linked ADCA; Autosomal dominant cerebellar ataxia; Nagano; puratrophin 1

Indexed keywords

PROTEIN; PURATROPHIN 1; THREONINE; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CONTROLLED STUDY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FAMILIAL INCIDENCE; FAMILY; FEMALE; HAPLOTYPE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PATHOGENESIS; POPULATION GENETICS; PREVALENCE; SPINOCEREBELLAR DEGENERATION;

5' UNTRANSLATED REGIONS; AGE OF ONSET; CEREBELLAR ATAXIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; GENES, DOMINANT; GENOTYPE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HAPLOTYPES; HUMANS; JAPAN; LINKAGE (GENETICS); POINT MUTATION; SPECTRIN;

ATAXIA;

EID: 33744969581     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0385-6     Document Type: Article

References (27)

1. Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 7:513-520
2. Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH (2003) Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849
3. David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70
4. Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Durr A, Brice A (2001) CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124:1939-1947
5. Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
6. Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K (2004) Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. Neurogenetics 5:215-221
7. Holmes SE, O'Hearn EE, Mclnnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL (1999) Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392
8. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, 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
9. Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T et al (2005) An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 77:280-296
10. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228
11. Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S (1999) A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 8:2047-2053
12. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384
13. Li M, Ishikawa K, Toru S, Tomimitsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H (2003) Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. J Hum Genet 48:111-118
14. Margolis RL (2003) Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future. Expert Rev Mol Diagn 3:715-732
15. Maruyama H, Izumi Y, Morino H, Oda M, Toji H, Nakamura S, Kawakami H (2002) Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Am J Med Genet 114:578-583
16. Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194
17. Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M (1994) Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet 8:177-182
18. Nagaoka U, Takashima M, Ishikawa K, Yoshizawa K, Yoshizawa T, Ishikawa M, Yamawaki T, Shoji S, Mizusawa H (2000) A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 54:1971-1975
19. Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I (2001) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441-1448
20. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-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
21. Sanpei 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
22. Sasaki H, Yabe I, Tashiro K (2003) The hereditary spinocerebellar ataxias in Japan. Cytogenet Genome Res 100:198-205
23. Schols L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291-304
24. Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, Ikeda S (2004) Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. J Hum Genet 49:610-616
25. Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H (2001) A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. J Hum Genet 46:167-171
26. Van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 72:191-199
27. 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 alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69