ATXN8OS
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(Redirected from SCA8)
Template:Short description An Error has occurred retrieving Wikidata item for infobox 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.[1]
See also
References
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- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: ATXN8OS ataxin 8 opposite strand".
- ^ Page Module:Citation/CS1/styles.css has no content.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. doi:10.1007/s12311-008-0010-7. ISSN 1473-4230. PMID 18418692. S2CID 31192490.
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP (Apr 1999). "An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)". Nature Genetics. 21 (4): 379–84. doi:10.1038/7710. PMID 10192387. S2CID 92533.
- Page Module:Citation/CS1/styles.css has no content.Nemes JP, Benzow KA, Moseley ML, Ranum LP, Koob MD (Jun 2000). "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. doi:10.1093/hmg/9.10.1543. PMID 10888605.
- Page Module:Citation/CS1/styles.css has no content.Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, do Céu Moreira M, Mendonça P, Ferreirinha F, Sequeiros J, Giugliani R (Oct 2001). "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. doi:10.1007/s004150170072. PMID 11697524. S2CID 8668841.
- Page Module:Citation/CS1/styles.css has no content.Benzow KA, Koob MD (Mar 2002). "The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved". Mammalian Genome. 13 (3): 134–41. doi:10.1007/s00335-001-2105-2. PMID 11919683.
- Page Module:Citation/CS1/styles.css has no content.Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L (Jul 2002). "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. doi:10.1007/s00415-002-0760-y. PMID 12140678. S2CID 13078473.
- Page Module:Citation/CS1/styles.css has no content.Andrés AM, Soldevila M, Saitou N, Volpini V, Calafell F, Bertranpetit J (Jan 2003). "Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes". Neuroscience Letters. 336 (3): 143–6. doi:10.1016/S0304-3940(02)01249-1. PMID 12505613. S2CID 45644080.
- Page Module:Citation/CS1/styles.css has no content.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 (Mar 2004). "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. doi:10.1111/j.0009-9163.2004.00213.x. PMID 14756671. S2CID 25348236.
- Page Module:Citation/CS1/styles.css has no content.Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J (2004). "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. PMID 14960773.
- Page Module:Citation/CS1/styles.css has no content.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 (Jul 2004). "Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia". American Journal of Human Genetics. 75 (1): 3–16. doi:10.1086/422014. PMC 1182005. PMID 15152344.
- Page Module:Citation/CS1/styles.css has no content.Factor SA, Qian J, Lava NS, Hubbard JD, Payami H (Mar 2005). "False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy". Annals of Neurology. 57 (3): 462–3. doi:10.1002/ana.20389. PMID 15732096. S2CID 33177240.
- Page Module:Citation/CS1/styles.css has no content.Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP (Jul 2006). "Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8". Nature Genetics. 38 (7): 758–69. doi:10.1038/ng1827. PMID 16804541. S2CID 10208298.
