tRNA pseudouridine 합성효소 A는 [5] [6] 유전자 에 의해 인체에서 암호화되는 효소 이다.
PUS1은 뉴클레오티드 가 RNA 에 통합된 후 우리딘 을 의사우리딘 으로 변환한다. 의사우리딘은 tRNA에서 기능적 역할을 할 수 있으며 rRNA의 펩티딜 전달 반응을 도울 수 있다. [[6] PUS1 유전자의 돌연변이는 미토콘드리아 미오파시 와 사이더아세포성 [7] [8]
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000177192 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000029507 - 앙상블 , 2017년 5월^ "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 . ^ a b "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 .
추가 정보 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, et al. (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 .
