Ataxin 10 Explained

Ataxin-10 is a protein that in humans is encoded by the ATXN10 gene.^{[1] [2]}

Clinical significance

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into three different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.^[2]

Defects in ATXN10 have been associated with Joubert syndrome.^[3]

Further reading

• Harding AE . Clinical features and classification of inherited ataxias. . Advances in Neurology . 61 . 1–14 . 1993 . 8421960 .
• Ashizawa T, Matsuura T . [Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion] . Rinsho Shinkeigaku . 41 . 12 . 1120–2 . 2002 . 12235814 .
• Grewal RP, Tayag E, Figueroa KP . Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. . Neurology . 51 . 5 . 1423–6 . 1998 . 9818872 . 10.1212/wnl.51.5.1423. 31738977 . etal.
• Dunham I, Shimizu N, Roe BA . The DNA sequence of human chromosome 22. . Nature . 402 . 6761 . 489–95 . 1999 . 10591208 . 10.1038/990031 . 1999Natur.402..489D . etal. free .
• Matsuura T, Yamagata T, Burgess DL . Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. . Nat. Genet. . 26 . 2 . 191–4 . 2000 . 11017075 . 10.1038/79911 . etal. free .
• Wiemann S, Weil B, Wellenreuther R . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. . Genome Res. . 11 . 3 . 422–35 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 . etal.
• Simpson JC, Wellenreuther R, Poustka A . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 . etal.
• Fujigasaki H, Tardieu S, Camuzat A . Spinocerebellar ataxia type 10 in the French population. . Ann. Neurol. . 51 . 3 . 408–9 . 2002 . 11891842 . 10.1002/ana.10126 . 20142437 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Matsuura T, Fang P, Lin X . Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. . Am. J. Hum. Genet. . 74 . 6 . 1216–24 . 2004 . 15127363 . 10.1086/421526 . 1182085 . etal.
• Collins JE, Wright CL, Edwards CA . A genome annotation-driven approach to cloning the human ORFeome. . Genome Biol. . 5 . 10 . R84 . 2005 . 15461802 . 10.1186/gb-2004-5-10-r84 . 545604 . etal . free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Matsuura T, Fang P, Pearson CE . Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? . Am. J. Hum. Genet. . 78 . 1 . 125–9 . 2006 . 16385455 . 10.1086/498654 . 1380209 . etal.
• Waragai M, Nagamitsu S, Xu W . Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. . J. Neurosci. Res. . 83 . 7 . 1170–8 . 2006 . 16498633 . 10.1002/jnr.20807 . 19731852 . etal.
• Ewing RM, Chu P, Elisma F . Large-scale mapping of human protein-protein interactions by mass spectrometry. . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 . etal.

External links

• GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 10

Notes and References

1. Zu L, Figueroa KP, Grewal R, Pulst SM . Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22 . Am J Hum Genet . 64 . 2 . 594–9 . Apr 1999 . 9973298 . 1377770 . 10.1086/302247 .
2. Web site: Entrez Gene: ATXN10 ataxin 10.
3. Sang L, Miller JJ, Corbit KC . Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways . Cell . 145 . 4 . 513–28 . May 2011 . 21565611 . 10.1016/j.cell.2011.04.019 . 3383065. etal.