ATN1

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Atrophin 1
Identifiers
Symbols ATN1 ; B37; D12S755E; DRPLA; NOD
External IDs Template:OMIM5 Template:MGI HomoloGene1461
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
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/a n/a
PubMed search n/a n/a

ATN1 is a protein found in nervous tissue.

It is associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".

Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein.[1]

References

  1. "Entrez Gene: ATN1 atrophin 1".

Further reading

  • Onodera O, Oyake M, Takano H; et al. (1995). "Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS". Am. J. Hum. Genet. 57 (5): 1050–60. PMID 7485154.
  • Yazawa I, Nukina N, Hashida H; et al. (1995). "Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain". Nat. Genet. 10 (1): 99–103. doi:10.1038/ng0595-99. PMID 7647802.
  • Nagafuchi S, Yanagisawa H, Ohsaki E; et al. (1995). "Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)". Nat. Genet. 8 (2): 177–82. doi:10.1038/ng1094-177. PMID 7842016.
  • Burke JR, Wingfield MS, Lewis KE; et al. (1994). "The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family". Nat. Genet. 7 (4): 521–4. doi:10.1038/ng0894-521. PMID 7951323.
  • Nagafuchi S, Yanagisawa H, Sato K; et al. (1994). "Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p". Nat. Genet. 6 (1): 14–8. doi:10.1038/ng0194-14. PMID 8136826.
  • Koide R, Ikeuchi T, Onodera O; et al. (1994). "Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)". Nat. Genet. 6 (1): 9–13. doi:10.1038/ng0194-9. PMID 8136840.
  • Li SH, McInnis MG, Margolis RL; et al. (1993). "Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms". Genomics. 16 (3): 572–9. doi:10.1006/geno.1993.1232. PMID 8325628.
  • Ansari-Lari MA, Muzny DM, Lu J; et al. (1996). "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13". Genome Res. 6 (4): 314–26. PMID 8723724.
  • Takano T, Yamanouchi Y, Nagafuchi S, Yamada M (1996). "Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization". Genomics. 32 (1): 171–2. doi:10.1006/geno.1996.0100. PMID 8786114.
  • Yanagisawa H, Fujii K, Nagafuchi S; et al. (1997). "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats". Hum. Mol. Genet. 5 (3): 373–9. PMID 8852663.
  • Margolis RL, Li SH, Young WS; et al. (1996). "DRPLA gene (atrophin-1) sequence and mRNA expression in human brain". Brain Res. Mol. Brain Res. 36 (2): 219–26. PMID 8965642.
  • Ansari-Lari MA, Shen Y, Muzny DM; et al. (1997). "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination". Genome Res. 7 (3): 268–80. PMID 9074930.
  • Miyashita T, Okamura-Oho Y, Mito Y; et al. (1997). "Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis". J. Biol. Chem. 272 (46): 29238–42. PMID 9361003.
  • Wellington CL, Ellerby LM, Hackam AS; et al. (1998). "Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract". J. Biol. Chem. 273 (15): 9158–67. PMID 9535906.
  • Wood JD, Yuan J, Margolis RL; et al. (1998). "Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins". Mol. Cell. Neurosci. 11 (3): 149–60. doi:10.1006/mcne.1998.0677. PMID 9647693.
  • Hayashi Y, Kakita A, Yamada M; et al. (1999). "Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain". Acta Neuropathol. 96 (6): 547–52. PMID 9845282.
  • Takiyama Y, Sakoe K, Amaike M; et al. (1999). "Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases". Hum. Mol. Genet. 8 (3): 453–7. PMID 9949204.
  • Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M (1999). "Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate". Hum. Mol. Genet. 8 (6): 947–57. PMID 10332026.
  • Dias Neto E, Correa RG, Verjovski-Almeida S; et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800.
  • Yanagisawa H, Bundo M, Miyashita T; et al. (2000). "Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine". Hum. Mol. Genet. 9 (9): 1433–42. PMID 10814707.


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