| 释义 |
- Function
- References
- Further reading
- External links
{{Infobox_gene}}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 cystine, thymine, guanine (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 results.[2] Presumably the expansion interferes with normal antisense function of this transcript.[1] References 1. ^1 {{cite web | title = Entrez Gene: ATXN8OS ataxin 8 opposite strand| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6315| accessdate = }}
2. ^{{Cite journal|last=Ikeda|first=Yoshio|last2=Daughters|first2=Randy S.|last3=Ranum|first3=Laura P. W.|date=2008|title=Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes|journal=Cerebellum (London, England)|volume=7|issue=2|pages=150–158|doi=10.1007/s12311-008-0010-7|issn=1473-4230|pmid=18418692}}
{{Clear}} Further reading {{refbegin | 2}}- {{cite journal | vauthors = Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP | title = An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) | journal = Nature Genetics | volume = 21 | issue = 4 | pages = 379–84 | date = Apr 1999 | pmid = 10192387 | doi = 10.1038/7710 }}
- {{cite journal | vauthors = Nemes JP, Benzow KA, Moseley ML, Ranum LP, Koob MD | title = The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1) | journal = Human Molecular Genetics | volume = 9 | issue = 10 | pages = 1543–51 | date = Jun 2000 | pmid = 10888605 | doi = 10.1093/hmg/9.10.1543 }}
- {{cite journal | vauthors = Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, do Céu Moreira M, Mendonça P, Ferreirinha F, Sequeiros J, Giugliani R | title = A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations | journal = Journal of Neurology | volume = 248 | issue = 10 | pages = 870–6 | date = Oct 2001 | pmid = 11697524 | doi = 10.1007/s004150170072 }}
- {{cite journal | vauthors = Benzow KA, Koob MD | title = The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved | journal = Mammalian Genome | volume = 13 | issue = 3 | pages = 134–41 | date = Mar 2002 | pmid = 11919683 | doi = 10.1007/s00335-001-2105-2 }}
- {{cite journal | vauthors = Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L | title = Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions | journal = Journal of Neurology | volume = 249 | issue = 7 | pages = 923–9 | date = Jul 2002 | pmid = 12140678 | doi = 10.1007/s00415-002-0760-y }}
- {{cite journal | vauthors = Andrés AM, Soldevila M, Saitou N, Volpini V, Calafell F, Bertranpetit J | title = Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes | journal = Neuroscience Letters | volume = 336 | issue = 3 | pages = 143–6 | date = Jan 2003 | pmid = 12505613 | doi = 10.1016/S0304-3940(02)01249-1 }}
- {{cite journal | vauthors = 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 | title = Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease | journal = Clinical Genetics | volume = 65 | issue = 3 | pages = 209–14 | date = Mar 2004 | pmid = 14756671 | doi = 10.1111/j.0009-9163.2004.00213.x }}
- {{cite journal | vauthors = Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J | title = Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group | journal = Journal of Applied Genetics | volume = 45 | issue = 1 | pages = 101–5 | year = 2004 | pmid = 14960773 | doi = }}
- {{cite journal | vauthors = 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 | title = Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia | journal = American Journal of Human Genetics | volume = 75 | issue = 1 | pages = 3–16 | date = Jul 2004 | pmid = 15152344 | pmc = 1182005 | doi = 10.1086/422014 }}
- {{cite journal | vauthors = Factor SA, Qian J, Lava NS, Hubbard JD, Payami H | title = False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy | journal = Annals of Neurology | volume = 57 | issue = 3 | pages = 462–3 | date = Mar 2005 | pmid = 15732096 | doi = 10.1002/ana.20389 }}
- {{cite journal | vauthors = Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP | title = Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 | journal = Nature Genetics | volume = 38 | issue = 7 | pages = 758–69 | date = Jul 2006 | pmid = 16804541 | doi = 10.1038/ng1827 }}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca8 GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 8]
- {{UCSC gene info|ATXN8OS}}
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