Haplotype diversity and somatic instability in normal and expanded SCA8 alleles

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 139 B, Issue 1, 2005, Pages 109-114

  Martins, Sandra ^a   Seixas, Ana I ^a,b   Magalhães, Paula ^a   Coutinho, Paula ^c   Sequeiros, Jorge ^a,b   Silveira, Isabel ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c Hospital So Sebastio   (Portugal)

Author keywords

CTG repeat; Haplotype; Somatic mosaicism; Spinocerebellar ataxia

Indexed keywords

GENOMIC DNA;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DNA SEQUENCE; EXON; GENE LOCUS; GENE SEGREGATION; GENETIC STABILITY; HAPLOTYPE; HUMAN; NUCLEOTIDE SEQUENCE; PENETRANCE; POLYMERASE CHAIN REACTION; PORTUGAL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

ALLELES; FEMALE; GENOMIC INSTABILITY; HAPLOTYPES; HUMANS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

ATAXIA;

EID: 27644506104     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30235     Document Type: Article

References (15)

1. Andres AM, Soldevila M, Saitou N, Volpini V, Calafell F, Bertranpetit J. 2003. Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes. Neurosci Lett 336:143-146.
2. Ikeda Y, Shizuka M, Watanabe M, Okamoto K, Shoji M. 2000. Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology 54:950-955.
3. Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP. 2004. Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 75:3-16.
4. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. 2003. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am J Hum Genet 72:869-878.
5. Juvonen V, Hietala M, Paivarinta M, Rantamaki M, Hakamies L, Kaakkola S, Vierimaa O, Penttinen M, Savontaus ML. 2000. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann Neurol 48:354-361.
6. 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.
7. Moseley ML, Schut LJ, Bird TD, Koob MD, Day JW, Ranum LP. 2000. SCA8 CTG repeat: En masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet 9:2125-2130.
8. Nemes JP, Benzow KA, Moseley ML, Ranum LP, Koob MD. 2000. The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum Mol Genet 9:1543-1551.
9. Silveira I, Alonso I, Guimaraes L, Mendonca P, Santos C, Maciel P, Fidalgo De Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J. 2000. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet 66:830-840.
10. Stephens M, Smith NJ, Donnelly P, PHASE version 2.0.2. 2001. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989.
11. Stevanin G, Herman A, Durr A, Jodice C, Frontali M, Agid Y, Brice A. 2000. Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nat Genet 24:213.
12. Strong PN, Brewster BS. 1997. Myotonic dystrophy: Molecular and cellular consequences of expanded DNA repeats are elusive. J Inherit Metab Dis 20:159-170.
13. 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. 1998. 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 63:1060-1066.
14. Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi F, Gurling HM, Potkin SG, Pato CN, Macedo A, Kovacs M, Davies M, Lieberman JA, Meltzer HY, Petronis A, Kennedy JL. 2000. An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: A common expansion locus. Am J Hum Genet 66:819-829.
15. Worth PF, Houlden H, Giunti P, Davis MB, Wood NW. 2000. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet 24:214-215.