PUS1

PUS1은 사람에서 슈도유리딘 생성효소 1을 암호화하고 있는 유전자이다. 슈도유리딘 생성효소 1은 뉴클레오타이드가 RNA에 통합된 후에 유리딘을 슈도유리딘으로 변환시킨다. 슈도유리딘은 tRNA에서 기능적 역할을 할 수 있고, rRNA의 펩티딜 전이반응을 도울 수 있다. PUS1 유전자 돌연변이는 미토콘드리아 근병증 및 철적혈모구빈혈과 관련이 있다. 슈도유리딘 키네이스 미토콘드리아 tRNA 슈도유리딘27/28 생성효소 tRNA 슈도유리딘38/39 생성효소 tRNA 슈도유리딘32 생성효소 GRCh38: Ensembl release 89: ENSG00000177192 - 앙상블, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000029507 - 앙상블, 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》.  Chen J, Patton JR (March 1999). “Cloning and characterization of a mammalian pseudouridine synthase”. 《RNA》 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.  “Entrez Gene: PUS1 pseudouridylate synthase 1”.  Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2009). “Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)”. 《BMJ Case Reports》 2009: bcr0520091889. doi:10.1136/bcr.05.2009.1889. PMC 3030164. PMID 21686963.  Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). “Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)”. 《American Journal of Human Genetics》 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.  Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). “Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)”. 《American Journal of Human Genetics》 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.  Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, 외. (November 2004). “Large-scale cDNA transfection screening for genes related to cancer development and progression”. 《Proceedings of the National Academy of Sciences of the United States of America》 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.  Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N (May 2005). “Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation”. 《The Journal of Biological Chemistry》 280 (20): 19823–8. doi:10.1074/jbc.M500216200. PMID 15772074.  Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). “A probability-based approach for high-throughput protein phosphorylation analysis and site localization”. 《Nature Biotechnology》 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.  Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (March 2007). “Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)”. 《Journal of Medical Genetics》 44 (3): 173–80. doi:10.1136/jmg.2006.045252. PMC 2598032. PMID 17056637.  Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks”. 《Cell》 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.