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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Ataxin 8 opposite strand''', also known as '''ATXN8OS''', is a human [[gene]].<ref name="entrez">{{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 = }}</ref>
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| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Ataxin 8 opposite strand
| HGNCid = 10561
| Symbol = ATXN8OS
| AltSymbols =; SCA8; KLHL1AS
| OMIM = 603680
| ECnumber = 
| Homologene = 
| MGIid = 
| Function =  
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6315
    | Hs_Ensembl = 
    | Hs_RefseqProtein = 
    | Hs_RefseqmRNA = 
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
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    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = 
    | Mm_RefseqProtein = 
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
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{{SI}}


SCA8 is an [[Complementarity (molecular biology)#Antisense transcripts|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 disease|polyglutamine]] mutant protein results.<ref>{{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}}</ref> Presumably the expansion interferes with normal antisense function of this transcript.<ref name="entrez" />


'''Ataxin 8 opposite strand''', also known as '''ATXN8OS''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ATXN8OS ataxin 8 opposite strand| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6315| accessdate = }}</ref>
== References ==
{{reflist}}
{{Clear}}


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Further reading ==
{{PBB_Summary
| section_title =
| summary_text = 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 CTG trinucleotide repeat expansion that is incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript.<ref name="entrez">{{cite web | title = Entrez Gene: ATXN8OS ataxin 8 opposite strand| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6315| accessdate = }}</ref>
}}
 
==References==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 }}
| citations =
* {{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 | author=Koob MD, Moseley ML, Schut LJ, ''et al.'' |title=An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 379-84 |year= 1999 |pmid= 10192387 |doi= 10.1038/7710 }}
* {{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 | author=Nemes JP, Benzow KA, Moseley ML, ''et al.'' |title=The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). |journal=Hum. Mol. Genet. |volume=9 |issue= 10 |pages= 1543-51 |year= 2000 |pmid= 10888605 |doi= }}
* {{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 | author=Jardim LB, Silveira I, Pereira ML, ''et al.'' |title=A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. |journal=J. Neurol. |volume=248 |issue= 10 |pages= 870-6 |year= 2002 |pmid= 11697524 |doi= }}
* {{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 | author=Benzow KA, Koob MD |title=The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved. |journal=Mamm. Genome |volume=13 |issue= 3 |pages= 134-41 |year= 2002 |pmid= 11919683 |doi= 10.1007/s00335-001-2105-2 }}
* {{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 | author=Brusco A, Cagnoli C, Franco A, ''et al.'' |title=Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. |journal=J. Neurol. |volume=249 |issue= 7 |pages= 923-9 |year= 2002 |pmid= 12140678 |doi= 10.1007/s00415-002-0760-y }}
* {{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 | author=Andrés AM, Soldevila M, Saitou N, ''et al.'' |title=Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes. |journal=Neurosci. Lett. |volume=336 |issue= 3 |pages= 143-6 |year= 2003 |pmid= 12505613 |doi= }}
* {{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 | author=Wu YR, Lin HY, Chen CM, ''et al.'' |title=Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. |journal=Clin. Genet. |volume=65 |issue= 3 |pages= 209-14 |year= 2004 |pmid= 14756671 |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 | author=Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, ''et al.'' |title=Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. |journal=J. Appl. Genet. |volume=45 |issue= 1 |pages= 101-5 |year= 2004 |pmid= 14960773 |doi=  }}
* {{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 | author=Ikeda Y, Dalton JC, Moseley ML, ''et al.'' |title=Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. |journal=Am. J. Hum. Genet. |volume=75 |issue= 1 |pages= 3-16 |year= 2004 |pmid= 15152344 |doi= 10.1086/422014 }}
* {{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 }}
*{{cite journal | author=Factor SA, Qian J, Lava NS, ''et al.'' |title=False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 462-3 |year= 2005 |pmid= 15732096 |doi= 10.1002/ana.20389 }}
*{{cite journal | author=Moseley ML, Zu T, Ikeda Y, ''et al.'' |title=Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. |journal=Nat. Genet. |volume=38 |issue= 7 |pages= 758-69 |year= 2006 |pmid= 16804541 |doi= 10.1038/ng1827 }}
}}
{{refend}}
{{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}}




{{WH}}
{{protein-stub}}

Latest revision as of 11:33, 9 January 2019

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 1.0 1.1 "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. doi:10.1007/s12311-008-0010-7. ISSN 1473-4230. PMID 18418692.

Further reading

  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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. 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.
  • 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.

External links


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