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Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the PABPN1gene.[1][2]
This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.[3] Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed.[2]
↑Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP (Aug 1995). "The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13". Hum Mol Genet. 4 (3): 429–34. doi:10.1093/hmg/4.3.429. PMID7795598.
↑Brais B (January 2009). "Oculopharyngeal muscular dystrophy: a polyalanine myopathy". Current Neurology and Neuroscience Reports. 9 (1): 76–82. doi:10.1007/s11910-009-0012-y. PMID19080757.
↑Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K (May 2001). "The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression". Hum. Mol. Genet. England. 10 (11): 1129–39. doi:10.1093/hmg/10.11.1129. ISSN0964-6906. PMID11371506.
Further reading
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA, Korcyn AD (1998). "Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy". Nat. Genet. 18 (2): 164–7. doi:10.1038/ng0298-164. PMID9462747.
Smith JJ, Rücknagel KP, Schierhorn A, Tang J, Nemeth A, Linder M, Herschman HR, Wahle E (1999). "Unusual sites of arginine methylation in Poly(A)-binding protein II and in vitro methylation by protein arginine methyltransferases PRMT1 and PRMT3". J. Biol. Chem. 274 (19): 13229–34. doi:10.1074/jbc.274.19.13229. PMID10224081.
Hoshino S, Imai M, Kobayashi T, Uchida N, Katada T (1999). "The eukaryotic polypeptide chain releasing factor (eRF3/GSPT) carrying the translation termination signal to the 3'-Poly(A) tail of mRNA. Direct association of erf3/GSPT with polyadenylate-binding protein". J. Biol. Chem. 274 (24): 16677–80. doi:10.1074/jbc.274.24.16677. PMID10358005.
Calado A, Tomé FM, Brais B, Rouleau GA, Kühn U, Wahle E, Carmo-Fonseca M (2001). "Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA". Hum. Mol. Genet. 9 (15): 2321–8. doi:10.1093/oxfordjournals.hmg.a018924. PMID11001936.
Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K (2001). "The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression". Hum. Mol. Genet. 10 (11): 1129–39. doi:10.1093/hmg/10.11.1129. PMID11371506.
Fan X, Dion P, Laganiere J, Brais B, Rouleau GA (2002). "Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death". Hum. Mol. Genet. 10 (21): 2341–51. doi:10.1093/hmg/10.21.2341. PMID11689481.
van der Sluijs BM, van Engelen BG, Hoefsloot LH (2003). "Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene". Hum. Mutat. 21 (5): 553. doi:10.1002/humu.9138. PMID12673802.
Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA (2003). "HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy". The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 30 (3): 244–51. doi:10.1017/s0317167100002675. PMID12945950.
Sugaya K, Matsubara S, Miyamoto K, Kawata A, Hayashi H (2004). "An aggregate-prone conformational epitope in trinucleotide repeat diseases". NeuroReport. 14 (18): 2331–5. doi:10.1097/01.wnr.0000089568.45990.3d. PMID14663186.
Dettwiler S, Aringhieri C, Cardinale S, Keller W, Barabino SM (2005). "Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization". J. Biol. Chem. 279 (34): 35788–97. doi:10.1074/jbc.M403927200. PMID15169763.
Rodríguez M, Camejo C, Bertoni B, Braida C, Rodríguez MM, Brais B, Medici M, Roche L (2005). "(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families". Neuromuscul. Disord. 15 (2): 185–90. doi:10.1016/j.nmd.2004.10.012. PMID15694141.
Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I (2005). "Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman". Neuromuscul. Disord. 15 (3): 262–4. doi:10.1016/j.nmd.2004.10.016. PMID15725589.
Dion P, Shanmugam V, Gaspar C, Messaed C, Meijer I, Toulouse A, Laganiere J, Roussel J, Rochefort D, Laganiere S, Allen C, Karpati G, Bouchard JP, Brais B, Rouleau GA (2005). "Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice". Neurobiol. Dis. 18 (3): 528–36. doi:10.1016/j.nbd.2004.09.021. PMID15755680.
