Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal

Human Heredity

Volumn 60, Issue 3, 2005, Pages 156-163

  Lima, M ^a   Costa, M C ^b,c   Montiel, R ^a   Ferro, A ^c   Santos, C ^d,g   Silva, C ^a   Bettencourt, C ^a   Sousa, A ^c,e   Sequeiros, J ^c,e   Coutinho, P ^f   Maciel, P ^b,c,e  

^a UNIVERSITY OF THE AZORES   (Portugal)

^b UNIVERSITY OF MINHO   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d UNIVERSITY OF COIMBRA   (Portugal)

^e UNIVERSITY OF PORTO   (Portugal)

^f Hospital So Sebastio   (Portugal)

^g UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

Expansion disorder; Machado Joseph disease; Mutational bias; Population study; Portugal; SCA3; Triplet repeats

Indexed keywords

ALLELE; ARTICLE; CORRELATION ANALYSIS; EPIDEMIOLOGICAL DATA; GENE FREQUENCY; HUMAN; MACHADO JOSEPH DISEASE; MUTATION; NUCLEOTIDE REPEAT; POPULATION GENETICS; PORTUGAL;

DEMOGRAPHY; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; HUMANS; MACHADO-JOSEPH DISEASE; MODELS, GENETIC; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PORTUGAL; REPRESSOR PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 31144472852     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000090035     Document Type: Article

References (49)

1. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelmen 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. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
4. 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.
5. 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: Unstable expansion of CAG repeat in hereditary dentatorubral- pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
6. 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: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
7. 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: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
8. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
9. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP: An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-384.
10. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, Kagawa Y, Kanazawa I, Mizuno Y, Yoshida M, Yuasa T, Horikawa Y, Oyanagi K, Nagai H, Kondo T, Inuzuka T, Onodera O, Tsuji S: The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993;4:300-304.
11. 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. Nat Genet 1994;8:221-228.
12. Coutinho P, Andrade C: Autosomal dominant system degeneration in Portuguese families of the Azores Islands. Neurology 1978;28:703-709.
13. Lima M, Mayer FM, Coutinho P, Abade A: Origins of a mutation: Population genetics of Machado-Joseph disease in the Azores (Portugal). Hum Biol 1998;70:1011-1023.
14. Lima M, Mayer F, Coutinho P, Abade A: Prevalence, geographic distribution, and genealogical investigation of Machado-Joseph disease in the Azores (Portugal). Hum Biol 1997;69:383-391.
15. Lima M, Kay T, Vasconcelos J, Mota-Vieira L, Gonzalez C, Peixoto A, Abade A, MacLeod P, Graca R, Santos J: Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal). Community Genet 2001;4:36-42.
16. Maciel P, Costa MC, Ferro A, Rousseau M, Santos CS, Gaspar C, Barros J, Rouleau GA, Coutinho P, Sequeiros J: Improvement in the molecular diagnosis of Machado-Joseph disease. Arch Neurol 2001;58:1821-1827.
17. Takiyama Y, Sakoe K, Nakano I, Nishizawa M: Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. Neurology 1997;49:604-606.
18. van Schaik IN, Jobsis GJ, Vermeulen M, Keizers H, Bolhuis PA, de Visser M: Machado-Joseph disease presenting as severe asymmetric proximal neuropathy. J Neurol Neurosurg Psychiatry 1997;63:534-536.
19. van Alfen N, Sinke RJ, Zwarts MJ, Gabreels-Festen A, Praamstra P, Kremer BP, Horstink MW: Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol 2001;49:805-808.
20. Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeda M, Lin C, Chi H, Kennedy JL, Lang AE, Wherrett JR, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M, Kidd KK, Tsuji S, St George-Hyslop PH: Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995;4: 1137-1146.
21. Deka R, Chakraborty R: Trinucletide repeats, genetic instability and variation in the human genome; in Papiha SS, Deka R, Chakraborty R (eds): Genomic Diversity: Applications in Human Population Genetics. New York, Kluwer Academic/Plenum Publishers, 1999, pp 53-64.
22. Parniewski P, Staczec P: Molecular Mechanisms of TRS instability; in Timchenko L (ed): Triplet Repeat Diseases of the Nervous System. New York, Kluwer Academic, 2002, pp 1-25.
23. Tsuji S: Unstable expansion of triplet repeats as a new disease. Jpn J Hum Genet 1996;41: 279-290.
24. Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, Dawson DM, Sudarsky L, Guimarães J, Loureiro JE, Nezarati MM, Corwin LI, Lopes-Cendes I, Rooke K, Rosenberg R, MacLeod P, Farrer LA, Sequeiros J, Rouleau GA: Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995;57:54-61.
25. Rubinsztein DC, Amos W, Leggo J, Goodburn S, Ramesar RS, Old J, Bontrop R, McMahon R, Barton DE, Ferguson-Smith MA: Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994; 7:525-530.
26. Amos W, Sawcer SJ, Feakes RW, Rubinsztein DC: Microsatellites show mutational bias and heterozygote instability. Nat Genet 1996;13: 390-391.
27. Davies J, Yamagata H, Shelbourne P, Buxton J, Ogihara T, Nokelainen P, Nakagawa M, Williamson R, Johnson K, Miki T: Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. J Med Genet 1992;29:766-769.
28. Goldman A, Ramsay M, Jenkins T: Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J Med Genet 1994;31:37-40.
29. Watkins WS, Mamshad M, Jorde LB: Population Genetics of trinucleotide repeat polymorphisms. Hum Mol Genet 1995;4:1485-1491.
30. Zerylnick C, Torroni A, Sherman SL, Warren ST: Normal variation at the myotonic dystrophy locis in global human populations. Am J Hum Genet 1995;56:123-130.
31. Bertranpetit J, Calafell F: Genome versus population understanding in human genetic studies; in Donnelly P, Foley R (eds): Genes, Fossils and Behavior: An Integrated Approach. Amsterdam, IOS Press, 2001, pp 49-62.
32. Andres A, Lao O, Soldevila M, Calafell F, Bertranpetit J: Dynamics of CAG repeat loci revealed by the analysis of their variability. Hum Mutat 2002;21:61-70.
33. Silva MC, Coutinho P, Pinheiro CD, Neves JM, Serrano P: Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal. J Clin Epidemiol 1997;50:1377-1384.
34. Abade A, Santos C, Lima M, Freire-Gonçalves A, Carvalho S, Coutinho P: Reproductive success in families with Machado-Joseph disease from the center of Portugal; in Varela TA (ed): Investigaciones en Biodiversidad Humana. Santiago de Compostela, Universidade de Santiago de Compostela, 2000, pp 17-24.
35. Santos C, Abade A, Lima M, Freire-Gonçalves A, Carvalho S, Coutinho P: Machado-Joseph disease in Portugal: the beginning of a long 'puzzle'; in Varela TA (ed): Investigaciones en Biodiversidad Humana. Santiago de Compostela: Universidade de Santiago de Compostela, 2000, pp 944-950.
36. SPSS Inc. SPSS for windows-release 9.0.0. Chicago, 1989-1999.
37. Guo SW, Thompson EA: Performing the exact test of Hardy-Weinberg proportions for multiple alleles. Biometrics 1992;48:361-372.
38. Raymond M, Rousset F: GENEPOP 1.2: Population genetics software for exact tests and ecumenicism. J Hered 1995;86:248-249.
39. Nei M: Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics 1978;89:583-590.
40. Schneider S, Roessli D, Excoffier L: ARLEQUIN: A software for population genetics data analysis 2.000. University of Geneva, Dept of Anthropology, Genetics and Biometry Lab, 2000.
41. Borenstein M, Rothstein H, Cohen J, Schoenfeld D, Berlin J: Power and Precision 2.00. Biostat, USA, 2000.
42. Leone O, Muglia M, Gabriele AL, Annesi G, Conforti FL, Imbrogno E, Imbrogno L, Brancati C: Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy). Hum Biol 1997;69:653-662.
43. Gyurus P, Molnar J, Melegh B, Toth G, Morava E, Kosztolanyi G, Mehes K: Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population. Am J Med Genet 1999;87:245-250.
44. Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanable M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA: Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study. Am J Hum Genet 2001;68:523-528.
45. Maciel P, Gaspar C, Guimarães L, Goto J, Lopes-Cendes I, Hayes S, Arvidsson K, Dias A, Sequeiros J, Sousa A, Rouleau GA: Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. Eur J Hum Genet 1999;7:147-156.
46. Costa MC, Guimarães L, Ferreirinha F, Sousa A, Maciel P, Sequeiros J: Study of the normal CAG tract at the Huntington disease locus in the Portuguese population. Eur J Hum Genet 2002;10:263-264.
47. Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Durr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S: Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 1998;63:1060-1066.
48. Lima M, Smith MT, Silva C, Abade A, Mayer FM, Coutinho P: Natural selection at the MJD locus: Phenotypic diversity, survival and fertility among Machado-Joseph disease patients from the Azores. J Biosoc Sci 2001;33:361-373.
49. Lima M: Machado-Joseph disease in the Azores: Epidemiological, Biodemographic and Genetic study. PhD thesis (in Portuguese). Ponta Delgada, University of the Azores, 1996.