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.[3] Presumably the expansion interferes with normal antisense function of this transcript.[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. doi:10.1007/s12311-008-0010-7. ISSN 1473-4230. PMID 18418692. S2CID 31192490.
Further readingEdit
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.
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.
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.
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.
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.
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.
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.
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.
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. PMC1182005. PMID 15152344.
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.
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.
External linksEdit
GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 8
Human ATXN8OS genome location and ATXN8OS gene details page in the UCSC Genome Browser.
This protein-related article is a stub. You can help Wikipedia by expanding it.
atxn8os, ataxin, opposite, strand, also, known, human, gene, identifiersaliases, klhl1as, ncrna00003, sca8, atxn8, opposite, strand, protein, coding, atxn8, opposite, strand, lncrnaexternal, idsomim, 603680, genecards, orthologsspecieshumanmouseentrez6315n, ae. Ataxin 8 opposite strand also known as ATXN8OS is a human gene 2 ATXN8OSIdentifiersAliasesATXN8OS KLHL1AS NCRNA00003 SCA8 ATXN8 opposite strand non protein coding ATXN8 opposite strand lncRNAExternal IDsOMIM 603680 GeneCards ATXN8OSOrthologsSpeciesHumanMouseEntrez6315n aEnsemblENSG00000230223n aUniProtnan aRefSeq mRNA n an aRefSeq protein n an aLocation UCSC n an aPubMed search 1 n aWikidataView Edit Human Contents 1 Function 2 See also 3 References 4 Further reading 5 External linksFunction EditSCA8 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 3 Presumably the expansion interferes with normal antisense function of this transcript 2 See also EditRAN translation Trinucleotide repeat disorderReferences Edit Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene ATXN8OS ataxin 8 opposite strand 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 EditKoob 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 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 Jardim LB Silveira I Pereira ML Ferro A Alonso I do Ceu Moreira M Mendonca 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 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 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 Andres 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 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 Sulek 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 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 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 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 External links EditGeneReviews NCBI NIH UW entry on Spinocerebellar Ataxia Type 8 Human ATXN8OS genome location and ATXN8OS gene details page in the UCSC Genome Browser This protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title ATXN8OS amp oldid 1171083157, wikipedia, wiki, book, books, library,
