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Atrophin 1

April 10, 2024

Atrophin-1 is a protein that in humans is encoded by the ATN1 gene.[5] The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat.[6] The function of Atrophin-1 has not yet been determined.[7] There is evidence provided by studies of Atrophin-1 in animals to suggest it acts as a transcriptional co-repressor.[7] Atrophin-1 can be found in the nuclear and cytoplasmic compartments of neurons.[7] It is expressed in nervous tissue.[8]

ATN1
Identifiers
AliasesATN1, B37, D12S755E, DRPLA, HRS, NOD, atrophin 1, CHEDDA
External IDsOMIM: 607462 MGI: 104725 HomoloGene: 1461 GeneCards: ATN1
Orthologs
SpeciesHumanMouse
Entrez

1822

13498

Ensembl

ENSG00000111676

ENSMUSG00000004263

UniProt

P54259

O35126

RefSeq (mRNA)

NM_001940
NM_001007026

NM_007881

RefSeq (protein)

NP_001007027
NP_001931

NP_031907

Location (UCSC)Chr 12: 6.92 – 6.94 MbChr 6: 124.72 – 124.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

The function of Atrophin-1 has not been defined yet. It is widely hypothesized that Atrophin-1 functions as a transcriptional co-repressor.[9] A transcriptional co-repressor is a protein that indirectly suppresses the activity of specific genes by interacting with DNA-binding proteins.[9]

Clinical significance edit

The ATN1 gene has a segment of DNA called the CAG trinucleotide repeat.[9] It is made up of cytosine, adenine, and guanine.[9] The number of CAG repeats in the ATN1 gene in a healthy person will range from six to thirty-five repeats.[9] CAG repeats that exceed thirty-five can cause a gain-of-function mutation in ATN1.[10] Studies have supported the idea that mutated Atrophin-1 gathers in neurons and disrupts cell function.[11] The sequence of the ATN1 gene contains a nuclear localizing signal (NLS) and a nuclear export signal (NES).[11] It has been shown that a mutation of the NES in ATN1 can change where ATN1 localizes, and can cause aggregation to occur in the nucleus.[11] This can lead to an increase in cellular toxicity.[11]

Mutations in ATN1 are associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy". Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia.[5] The disorder is related to the expansion of a trinucleotide repeat within this gene.[5] In patients with DRPLA, truncated ATN1 has been observed forming intranuclear aggregates that cause cell death.[11] The symptoms of this disorder can be credited to the significant reduction of brain and spinal tissue observed in those afflicted with DRPLA.[12] There are both juvenile-onset and late adult-onset variants of DRPLA, which show differing degrees of severity of specific symptoms.[12]

Interactions edit

ATN1 has been shown to interact with:

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000111676 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004263 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "ATN1 atrophin 1 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-03-12.
  6. ^ "Entrez Gene: ATN1 atrophin 1".
  7. ^ a b c Wood JD, Nucifora FC, Duan K, Zhang C, Wang J, Kim Y, Schilling G, Sacchi N, Liu JM, Ross CA (September 2000). "Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription". The Journal of Cell Biology. 150 (5): 939–48. doi:10.1083/jcb.150.5.939. PMC 2175251. PMID 10973986.
  8. ^ Shen Y, Peterson AS (February 2009). "Atrophins' emerging roles in development and neurodegenerative disease". Cellular and Molecular Life Sciences. 66 (3): 437–46. doi:10.1007/s00018-008-8403-9. PMID 18953689. S2CID 11380927.
  9. ^ a b c d e "ATN1 gene". Genetics Home Reference. Retrieved 2017-02-21.
  10. ^ Shen Y, Lee G, Choe Y, Zoltewicz JS, Peterson AS (February 2007). "Functional architecture of atrophins". The Journal of Biological Chemistry. 282 (7): 5037–44. doi:10.1074/jbc.M610274200. PMID 17150957.
  11. ^ a b c d e Suzuki Y, Yazawa I (April 2011). "Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy". International Journal of Clinical and Experimental Pathology. 4 (4): 378–84. PMC 3093063. PMID 21577324.
  12. ^ a b "Dentatorubral-Pallidoluysian Atrophy, DRPLA". themedicalbiochemistrypage.org. Retrieved 2017-02-21.
  13. ^ Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M (June 1999). "Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate". Human Molecular Genetics. 8 (6): 947–57. doi:10.1093/hmg/8.6.947. PMID 10332026.
  14. ^ a b c Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA (June 1998). "Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins". Molecular and Cellular Neurosciences. 11 (3): 149–60. doi:10.1006/mcne.1998.0677. PMID 9647693. S2CID 20003277.
  15. ^ Yanagisawa H, Bundo M, Miyashita T, Okamura-Oho Y, Tadokoro K, Tokunaga K, Yamada M (May 2000). "Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine". Human Molecular Genetics. 9 (9): 1433–42. doi:10.1093/hmg/9.9.1433. PMID 10814707.

Further reading edit

  • Wang L, Rajan H, Pitman JL, McKeown M, Tsai CC (March 2006). "Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors". Genes & Development. 20 (5): 525–30. doi:10.1101/gad.1393506. PMC 1410805. PMID 16481466.
  • Onodera O, Oyake M, Takano H, Ikeuchi T, Igarashi S, Tsuji S (November 1995). "Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS". American Journal of Human Genetics. 57 (5): 1050–60. PMC 1801383. PMID 7485154.
  • Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I (May 1995). "Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain". Nature Genetics. 10 (1): 99–103. doi:10.1038/ng0595-99. PMID 7647802. S2CID 5850726.
  • Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M (October 1994). "Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)". Nature Genetics. 8 (2): 177–82. doi:10.1038/ng1094-177. PMID 7842016. S2CID 2590882.
  • Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM (August 1994). "The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family". Nature Genetics. 7 (4): 521–4. doi:10.1038/ng0894-521. PMID 7951323. S2CID 40759301.
  • Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N (January 1994). "Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p". Nature Genetics. 6 (1): 14–8. doi:10.1038/ng0194-14. PMID 8136826. S2CID 19708585.
  • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T (January 1994). "Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)". Nature Genetics. 6 (1): 9–13. doi:10.1038/ng0194-9. PMID 8136840. S2CID 27241147.
  • Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA (June 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, Lu F, Lilley CE, Spanos S, Malley T, Gibbs RA (April 1996). "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13". Genome Research. 6 (4): 314–26. doi:10.1101/gr.6.4.314. PMID 8723724.
  • Takano T, Yamanouchi Y, Nagafuchi S, Yamada M (February 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, Nakahori Y, Nakagome Y, Akane A, Nakamura M, Sano A, Komure O, Kondo I, Jin DK, Sørensen SA, Potter NT, Young SR, Nakamura K, Nukina N, Nagao Y, Tadokoro K, Okuyama T, Miyashita T, Inoue T, Kanazawa I, Yamada M (March 1996). "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats". Human Molecular Genetics. 5 (3): 373–9. doi:10.1093/hmg/5.3.373. PMID 8852663.
  • Margolis RL, Li SH, Young WS, Wagster MV, Stine OC, Kidwai AS, Ashworth RG, Ross CA (March 1996). "DRPLA gene (atrophin-1) sequence and mRNA expression in human brain". Brain Research. Molecular Brain Research. 36 (2): 219–26. doi:10.1016/0169-328X(95)00241-J. PMID 8965642.
  • Ansari-Lari MA, Shen Y, Muzny DM, Lee W, Gibbs RA (March 1997). "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination". Genome Research. 7 (3): 268–80. doi:10.1101/gr.7.3.268. PMID 9074930.
  • Miyashita T, Okamura-Oho Y, Mito Y, Nagafuchi S, Yamada M (November 1997). "Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis". The Journal of Biological Chemistry. 272 (46): 29238–42. doi:10.1074/jbc.272.46.29238. PMID 9361003.
  • Wellington CL, Ellerby LM, Hackam AS, Margolis RL, Trifiro MA, Singaraja R, McCutcheon K, Salvesen GS, Propp SS, Bromm M, Rowland KJ, Zhang T, Rasper D, Roy S, Thornberry N, Pinsky L, Kakizuka A, Ross CA, Nicholson DW, Bredesen DE, Hayden MR (April 1998). "Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract". The Journal of Biological Chemistry. 273 (15): 9158–67. doi:10.1074/jbc.273.15.9158. PMID 9535906.
  • Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA (June 1998). "Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins". Molecular and Cellular Neurosciences. 11 (3): 149–60. doi:10.1006/mcne.1998.0677. PMID 9647693. S2CID 20003277.
  • Hayashi Y, Kakita A, Yamada M, Koide R, Igarashi S, Takano H, Ikeuchi T, Wakabayashi K, Egawa S, Tsuji S, Takahashi H (December 1998). "Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain". Acta Neuropathologica. 96 (6): 547–52. doi:10.1007/s004010050933. PMID 9845282. S2CID 12861680.
  • Takiyama Y, Sakoe K, Amaike M, Soutome M, Ogawa T, Nakano I, Nishizawa M (March 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". Human Molecular Genetics. 8 (3): 453–7. doi:10.1093/hmg/8.3.453. PMID 9949204.
  • Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M (June 1999). "Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate". Human Molecular Genetics. 8 (6): 947–57. doi:10.1093/hmg/8.6.947. PMID 10332026.
  • Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
  • Yanagisawa H, Bundo M, Miyashita T, Okamura-Oho Y, Tadokoro K, Tokunaga K, Yamada M (May 2000). "Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine". Human Molecular Genetics. 9 (9): 1433–42. doi:10.1093/hmg/9.9.1433. PMID 10814707.

External links edit

April 10, 2024
atrophin, atrophin, protein, that, humans, encoded, atn1, gene, encoded, protein, includes, serine, repeat, region, alternating, acidic, basic, amino, acids, well, variable, glutamine, repeat, function, atrophin, been, determined, there, evidence, provided, st. Atrophin 1 is a protein that in humans is encoded by the ATN1 gene 5 The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids as well as the variable glutamine repeat 6 The function of Atrophin 1 has not yet been determined 7 There is evidence provided by studies of Atrophin 1 in animals to suggest it acts as a transcriptional co repressor 7 Atrophin 1 can be found in the nuclear and cytoplasmic compartments of neurons 7 It is expressed in nervous tissue 8 ATN1IdentifiersAliasesATN1 B37 D12S755E DRPLA HRS NOD atrophin 1 CHEDDAExternal IDsOMIM 607462 MGI 104725 HomoloGene 1461 GeneCards ATN1Gene location Human Chr Chromosome 12 human 1 Band12p13 31Start6 924 463 bp 1 End6 942 321 bp 1 Gene location Mouse Chr Chromosome 6 mouse 2 Band6 F2 6 59 17 cMStart124 719 507 bp 2 End124 733 487 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inanterior pituitaryright uterine tuberight lobe of thyroid glandleft lobe of thyroid glandgastric mucosacanal of the cervixright adrenal glandleft uterine tuberight coronary arterypopliteal arteryTop expressed insuperior frontal gyruscerebellar cortexlipdorsomedial hypothalamic nucleusyolk sachabenulasubiculumcerebellar vermisskeletal muscle tissuesuperior colliculusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding transcription corepressor activity protein domain specific binding DNA bindingCellular componentnuclear matrix perinuclear region of cytoplasm cell junction nucleoplasm cytoplasm nucleusBiological processneuron apoptotic process central nervous system development regulation of transcription DNA templated negative regulation of transcription by RNA polymerase II transcription DNA templatedSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez182213498EnsemblENSG00000111676ENSMUSG00000004263UniProtP54259O35126RefSeq mRNA NM 001940NM 001007026NM 007881RefSeq protein NP 001007027NP 001931NP 031907Location UCSC Chr 12 6 92 6 94 MbChr 6 124 72 124 73 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 Interactions 4 References 5 Further reading 6 External linksFunction editThe function of Atrophin 1 has not been defined yet It is widely hypothesized that Atrophin 1 functions as a transcriptional co repressor 9 A transcriptional co repressor is a protein that indirectly suppresses the activity of specific genes by interacting with DNA binding proteins 9 Clinical significance editThe ATN1 gene has a segment of DNA called the CAG trinucleotide repeat 9 It is made up of cytosine adenine and guanine 9 The number of CAG repeats in the ATN1 gene in a healthy person will range from six to thirty five repeats 9 CAG repeats that exceed thirty five can cause a gain of function mutation in ATN1 10 Studies have supported the idea that mutated Atrophin 1 gathers in neurons and disrupts cell function 11 The sequence of the ATN1 gene contains a nuclear localizing signal NLS and a nuclear export signal NES 11 It has been shown that a mutation of the NES in ATN1 can change where ATN1 localizes and can cause aggregation to occur in the nucleus 11 This can lead to an increase in cellular toxicity 11 Mutations in ATN1 are associated with a form of trinucleotide repeat disorder known as dentatorubral pallidoluysian atrophy or dentatorubropallidoluysian atrophy Dentatorubral pallidoluysian atrophy DRPLA is a rare neurodegenerative disorder characterized by cerebellar ataxia myoclonic epilepsy choreoathetosis and dementia 5 The disorder is related to the expansion of a trinucleotide repeat within this gene 5 In patients with DRPLA truncated ATN1 has been observed forming intranuclear aggregates that cause cell death 11 The symptoms of this disorder can be credited to the significant reduction of brain and spinal tissue observed in those afflicted with DRPLA 12 There are both juvenile onset and late adult onset variants of DRPLA which show differing degrees of severity of specific symptoms 12 Interactions editATN1 has been shown to interact with BAIAP2 13 MAGI1 14 MAGI2 14 RERE 15 and WWP2 14 References edit a b c GRCh38 Ensembl release 89 ENSG00000111676 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000004263 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c ATN1 atrophin 1 Homo sapiens human Gene NCBI www ncbi nlm nih gov Retrieved 2017 03 12 Entrez Gene ATN1 atrophin 1 a b c Wood JD Nucifora FC Duan K Zhang C Wang J Kim Y Schilling G Sacchi N Liu JM Ross CA September 2000 Atrophin 1 the dentato rubral and pallido luysian atrophy gene product interacts with ETO MTG8 in the nuclear matrix and represses transcription The Journal of Cell Biology 150 5 939 48 doi 10 1083 jcb 150 5 939 PMC 2175251 PMID 10973986 Shen Y Peterson AS February 2009 Atrophins emerging roles in development and neurodegenerative disease Cellular and Molecular Life Sciences 66 3 437 46 doi 10 1007 s00018 008 8403 9 PMID 18953689 S2CID 11380927 a b c d e ATN1 gene Genetics Home Reference Retrieved 2017 02 21 Shen Y Lee G Choe Y Zoltewicz JS Peterson AS February 2007 Functional architecture of atrophins The Journal of Biological Chemistry 282 7 5037 44 doi 10 1074 jbc M610274200 PMID 17150957 a b c d e Suzuki Y Yazawa I April 2011 Pathological accumulation of atrophin 1 in dentatorubralpallidoluysian atrophy International Journal of Clinical and Experimental Pathology 4 4 378 84 PMC 3093063 PMID 21577324 a b Dentatorubral Pallidoluysian Atrophy DRPLA themedicalbiochemistrypage org Retrieved 2017 02 21 Okamura Oho Y Miyashita T Ohmi K Yamada M June 1999 Dentatorubral pallidoluysian atrophy protein interacts through a proline rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate Human Molecular Genetics 8 6 947 57 doi 10 1093 hmg 8 6 947 PMID 10332026 a b c Wood JD Yuan J Margolis RL Colomer V Duan K Kushi J Kaminsky Z Kleiderlein JJ Sharp AH Ross CA June 1998 Atrophin 1 the DRPLA gene product interacts with two families of WW domain containing proteins Molecular and Cellular Neurosciences 11 3 149 60 doi 10 1006 mcne 1998 0677 PMID 9647693 S2CID 20003277 Yanagisawa H Bundo M Miyashita T Okamura Oho Y Tadokoro K Tokunaga K Yamada M May 2000 Protein binding of a DRPLA family through arginine glutamic acid dipeptide repeats is enhanced by extended polyglutamine Human Molecular Genetics 9 9 1433 42 doi 10 1093 hmg 9 9 1433 PMID 10814707 Further reading editWang L Rajan H Pitman JL McKeown M Tsai CC March 2006 Histone deacetylase associating Atrophin proteins are nuclear receptor corepressors Genes amp Development 20 5 525 30 doi 10 1101 gad 1393506 PMC 1410805 PMID 16481466 Onodera O Oyake M Takano H Ikeuchi T Igarashi S Tsuji S November 1995 Molecular cloning of a full length cDNA for dentatorubral pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS American Journal of Human Genetics 57 5 1050 60 PMC 1801383 PMID 7485154 Yazawa I Nukina N Hashida H Goto J Yamada M Kanazawa I May 1995 Abnormal gene product identified in hereditary dentatorubral pallidoluysian atrophy DRPLA brain Nature Genetics 10 1 99 103 doi 10 1038 ng0595 99 PMID 7647802 S2CID 5850726 Nagafuchi S Yanagisawa H Ohsaki E Shirayama T Tadokoro K Inoue T Yamada M October 1994 Structure and expression of the gene responsible for the triplet repeat disorder dentatorubral and pallidoluysian atrophy DRPLA Nature Genetics 8 2 177 82 doi 10 1038 ng1094 177 PMID 7842016 S2CID 2590882 Burke JR Wingfield MS Lewis KE Roses AD Lee JE Hulette C Pericak Vance MA Vance JM August 1994 The Haw River syndrome dentatorubropallidoluysian atrophy DRPLA in an African American family Nature Genetics 7 4 521 4 doi 10 1038 ng0894 521 PMID 7951323 S2CID 40759301 Nagafuchi S Yanagisawa H Sato K Shirayama T Ohsaki E Bundo M Takeda T Tadokoro K Kondo I Murayama N January 1994 Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p Nature Genetics 6 1 14 8 doi 10 1038 ng0194 14 PMID 8136826 S2CID 19708585 Koide R Ikeuchi T Onodera O Tanaka H Igarashi S Endo K Takahashi H Kondo R Ishikawa A Hayashi T January 1994 Unstable expansion of CAG repeat in hereditary dentatorubral pallidoluysian atrophy DRPLA Nature Genetics 6 1 9 13 doi 10 1038 ng0194 9 PMID 8136840 S2CID 27241147 Li SH McInnis MG Margolis RL Antonarakis SE Ross CA June 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 Lu F Lilley CE Spanos S Malley T Gibbs RA April 1996 A gene rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13 Genome Research 6 4 314 26 doi 10 1101 gr 6 4 314 PMID 8723724 Takano T Yamanouchi Y Nagafuchi S Yamada M February 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 Nakahori Y Nakagome Y Akane A Nakamura M Sano A Komure O Kondo I Jin DK Sorensen SA Potter NT Young SR Nakamura K Nukina N Nagao Y Tadokoro K Okuyama T Miyashita T Inoue T Kanazawa I Yamada M March 1996 A unique origin and multistep process for the generation of expanded DRPLA triplet repeats Human Molecular Genetics 5 3 373 9 doi 10 1093 hmg 5 3 373 PMID 8852663 Margolis RL Li SH Young WS Wagster MV Stine OC Kidwai AS Ashworth RG Ross CA March 1996 DRPLA gene atrophin 1 sequence and mRNA expression in human brain Brain Research Molecular Brain Research 36 2 219 26 doi 10 1016 0169 328X 95 00241 J PMID 8965642 Ansari Lari MA Shen Y Muzny DM Lee W Gibbs RA March 1997 Large scale sequencing in human chromosome 12p13 experimental and computational gene structure determination Genome Research 7 3 268 80 doi 10 1101 gr 7 3 268 PMID 9074930 Miyashita T Okamura Oho Y Mito Y Nagafuchi S Yamada M November 1997 Dentatorubral pallidoluysian atrophy DRPLA protein is cleaved by caspase 3 during apoptosis The Journal of Biological Chemistry 272 46 29238 42 doi 10 1074 jbc 272 46 29238 PMID 9361003 Wellington CL Ellerby LM Hackam AS Margolis RL Trifiro MA Singaraja R McCutcheon K Salvesen GS Propp SS Bromm M Rowland KJ Zhang T Rasper D Roy S Thornberry N Pinsky L Kakizuka A Ross CA Nicholson DW Bredesen DE Hayden MR April 1998 Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract The Journal of Biological Chemistry 273 15 9158 67 doi 10 1074 jbc 273 15 9158 PMID 9535906 Wood JD Yuan J Margolis RL Colomer V Duan K Kushi J Kaminsky Z Kleiderlein JJ Sharp AH Ross CA June 1998 Atrophin 1 the DRPLA gene product interacts with two families of WW domain containing proteins Molecular and Cellular Neurosciences 11 3 149 60 doi 10 1006 mcne 1998 0677 PMID 9647693 S2CID 20003277 Hayashi Y Kakita A Yamada M Koide R Igarashi S Takano H Ikeuchi T Wakabayashi K Egawa S Tsuji S Takahashi H December 1998 Hereditary dentatorubral pallidoluysian atrophy detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain Acta Neuropathologica 96 6 547 52 doi 10 1007 s004010050933 PMID 9845282 S2CID 12861680 Takiyama Y Sakoe K Amaike M Soutome M Ogawa T Nakano I Nishizawa M March 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 Human Molecular Genetics 8 3 453 7 doi 10 1093 hmg 8 3 453 PMID 9949204 Okamura Oho Y Miyashita T Ohmi K Yamada M June 1999 Dentatorubral pallidoluysian atrophy protein interacts through a proline rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate Human Molecular Genetics 8 6 947 57 doi 10 1093 hmg 8 6 947 PMID 10332026 Dias Neto E Correa RG Verjovski Almeida S Briones MR Nagai MA da Silva W Zago MA Bordin S Costa FF Goldman GH Carvalho AF Matsukuma A Baia GS Simpson DH Brunstein A de Oliveira PS Bucher P Jongeneel CV O Hare MJ Soares F Brentani RR Reis LF de Souza SJ Simpson AJ March 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags Proceedings of the National Academy of Sciences of the United States of America 97 7 3491 6 Bibcode 2000PNAS 97 3491D doi 10 1073 pnas 97 7 3491 PMC 16267 PMID 10737800 Yanagisawa H Bundo M Miyashita T Okamura Oho Y Tadokoro K Tokunaga K Yamada M May 2000 Protein binding of a DRPLA family through arginine glutamic acid dipeptide repeats is enhanced by extended polyglutamine Human Molecular Genetics 9 9 1433 42 doi 10 1093 hmg 9 9 1433 PMID 10814707 External links editGeneReviews NCBI NIH UW entry on DRPLA atrophin 1 at the U S National Library of Medicine Medical Subject Headings MeSH Human ATN1 genome location and ATN1 gene details page in the UCSC Genome Browser Retrieved from https en wikipedia org w index php title Atrophin 1 amp oldid 1136109451, wikipedia, wiki, book, books, library,

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