ATXN8OS explained

Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene.^[1]

Function

SCA8 is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A cytidine, thymidine, guanosine (CTG) trinucleotide repeat expansion that is incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. When the CTG expansion is present, a polyglutamine mutant protein is produced.^[2] Presumably the expansion interferes with normal antisense function of this transcript.

See also

• RAN translation
• Trinucleotide repeat disorder

References

Further reading

• 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) . Nature Genetics . 21 . 4 . 379–84 . Apr 1999 . 10192387 . 10.1038/7710 . 92533 .
• Nemes JP, Benzow KA, Moseley ML, Ranum LP, Koob MD . The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1) . Human Molecular Genetics . 9 . 10 . 1543–51 . Jun 2000 . 10888605 . 10.1093/hmg/9.10.1543 .
• Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, do Céu Moreira M, Mendonça P, Ferreirinha F, Sequeiros J, Giugliani R . A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations . Journal of Neurology . 248 . 10 . 870–6 . Oct 2001 . 11697524 . 10.1007/s004150170072 . 8668841 .
• Benzow KA, Koob MD . The KLHL1-antisense transcript (KLHL1AS) is evolutionarily conserved . Mammalian Genome . 13 . 3 . 134–41 . Mar 2002 . 11919683 . 10.1007/s00335-001-2105-2 .
• Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L . Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions . Journal of Neurology . 249 . 7 . 923–9 . Jul 2002 . 12140678 . 10.1007/s00415-002-0760-y . 13078473 .
• Andrés AM, Soldevila M, Saitou N, Volpini V, Calafell F, Bertranpetit J . Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes . Neuroscience Letters . 336 . 3 . 143–6 . Jan 2003 . 12505613 . 10.1016/S0304-3940(02)01249-1 . 45644080 .
• Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ . Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease . Clinical Genetics . 65 . 3 . 209–14 . Mar 2004 . 14756671 . 10.1111/j.0009-9163.2004.00213.x . 25348236 .
• Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J . Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group . Journal of Applied Genetics . 45 . 1 . 101–5 . 2004 . 14960773 .
• 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 . Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia . American Journal of Human Genetics . 75 . 1 . 3–16 . Jul 2004 . 15152344 . 1182005 . 10.1086/422014 .
• Factor SA, Qian J, Lava NS, Hubbard JD, Payami H . False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy . Annals of Neurology . 57 . 3 . 462–3 . Mar 2005 . 15732096 . 10.1002/ana.20389 . 33177240 .
• Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP . Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 . Nature Genetics . 38 . 7 . 758–69 . Jul 2006 . 16804541 . 10.1038/ng1827 . 10208298 .

External links

• GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 8

Notes and References

1. Web site: Entrez Gene: ATXN8OS ataxin 8 opposite strand.
2. Ikeda. Yoshio. Daughters. Randy S.. Ranum. Laura P. W.. 2008. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum (London, England). 7. 2. 150–158. 10.1007/s12311-008-0010-7. 1473-4230. 18418692. 31192490.