Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations

American Journal of Human Genetics

Volumn 65, Issue 1, 1999, Pages 192-198

  Deka, Ranjan ^a   Guangyun, Sun ^a,c   Wiest, Jonathan ^a   Smelser, Diane ^a   Chunhua, Su ^a   Zhong, Yixi ^b   Chakraborty, Ranajit ^b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^c SICHUAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; ASIAN; CAUCASIAN; CHROMOSOME 17Q; DNA POLYMORPHISM; GENE LOCUS; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; MEIOSIS; MUTATION RATE; NEGRO; PARENT; POPULATION GENETICS; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

FELIS CATUS;

EID: 0033362098     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302453     Document Type: Article

References (27)

1. Benson KF, Horwitz M, Wolff J, Friend K, Thompson E, White S, Richards RI, et al (1998) CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients. Hum Mol Genet 7:1779-1786
2. Breschel TS, McInnis MG, Margolis RL, Sirugo G, Corneliussen B, Simpson SG, McMahon FJ, et al (1997) A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. Hum Mol Genet 11:1855-1863
3. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, et al (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
4. Chakraborty R, Kimmel M, Stivers DN, Davison LJ, Deka R (1997) Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci. Proc Natl Acad Sci USA 94:1041-1046
5. Chakraborty R, Stivers DN, Deka R, Yu LM, Shriver MD, Ferrell RE (1996) Segregation distortion of the CTG repeats at the myotonic dystrophy locus. Am J Hum Genet 59: 109-118
6. Chung M-Y, Ranum LPW, Duvick LA, Servadio A, Zoghvi H, Orr HT (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5:254-258
7. David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Wever C, et al (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70
8. n polymorphisms in world populations. Am J Hum Genet 56:461-474
9. Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, et al (1994) Length of uninterrupted CGG repeats determines stability in the FMR1 gene. Nat Genet 8:88-94
10. Guo SW, Thompson EA (1992) Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361-372
11. Huntington's Disease Collaborative Research Group, The (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
12. Ikeuchi T, Kazuhiro S, Takano H, Sasaki H, Tashiro K, Cancel G, Brice A, et al (1998) A novel long and unstable CAG/ CTG trinucleotide repeat on chromosome 17q. Genomics 49:321-326
13. Kawaguchi Y, Okamora T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, et al (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228
14. Kimmel M, Chakraborty R, Stivers DN, Deka R (1996) Dynamics of repeat polymorphisms under a forward-backward mutation model: within-and between-population variability at microsatellite loci. Genetics 143:549-555
15. Koide R, Ikeuchi T, Onodera O, Tanaka H, Kondo R, Ishikawa A, Hayashi T, et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
16. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LPW (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384
17. LaSpada AR, Wilson AM, Lubahn DB, Harding AE, Fishbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79
18. Li CC (1976) First course in population genetics. Boxwood, Pacific Grove, CA, pp 1-15
19. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255
20. Monckton DG, Neumann R, Guram T, Fretwell N, Tamaki K, MacLeod A, Jeffreys AJ (1994) Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism. Nat Genet 8:162-170
21. Nakamoto M, Takebayashi H, Kawaguchi Y, Narumiya S, Taniwaki M, Nakamura Y, Ishikawa Y, et al (1997) A CAG/ CTG expansion in the normal population. Nat Genet 17: 385-386
22. Nei M (1978) Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics 89: 583-590
23. Orr HT, Chung M, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226
24. Pulst S-M, Nechiporuk A, Nechiporuk T, Gispert S, Chen X-N, Lopes-Cendes I, Pearlman S, et al (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276
25. Snedecor GW, Cochran WG (1976) Statistical methods, 5th ed. Iowa State University Press, Ames, pp 246-248
26. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 8:1123-1128
27. IA-voltage-dependent calcium channel. Nat Genet 15:62-69