PUS1 explained

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.^{[1] [2]}

PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs.[supplied by OMIM]. The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.^{[3] [4]}

See also

• Pseudouridine kinase
• Mitochondrial tRNA pseudouridine27/28 synthase
• TRNA pseudouridine38/39 synthase
• TRNA pseudouridine32 synthase

Further reading

• Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N . Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA) . American Journal of Human Genetics . 74 . 6 . 1303–8 . June 2004 . 15108122 . 1182096 . 10.1086/421530 .
• Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, Zhou X, Li H, Qiu X, Zhong F, He L, Yu J, Yao G, Jiang H, Qian L, Yu Y, Shu H, Chen X, Xu H, Guo M, Pan Z, Chen Y, Ge C, Yang S, Gu J . 6 . 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 . November 2004 . 15498874 . 524842 . 10.1073/pnas.0404089101 . 2004PNAS..10115724W . free .
• Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N . 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 . May 2005 . 15772074 . 10.1074/jbc.M500216200 . free .
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP . A probability-based approach for high-throughput protein phosphorylation analysis and site localization . Nature Biotechnology . 24 . 10 . 1285–92 . October 2006 . 16964243 . 10.1038/nbt1240 . 14294292 .
• Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M . 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 . March 2007 . 17056637 . 2598032 . 10.1136/jmg.2006.045252 .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . November 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .

Notes and References

1. Chen J, Patton JR . Cloning and characterization of a mammalian pseudouridine synthase . RNA . 5 . 3 . 409–19 . March 1999 . 10094309 . 1369769 . 10.1017/S1355838299981591 .
2. Web site: Entrez Gene: PUS1 pseudouridylate synthase 1.
3. Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M . Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) . BMJ Case Reports . 2009 . bcr0520091889 . 2009 . 21686963 . 3030164 . 10.1136/bcr.05.2009.1889 .
4. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N . Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA) . American Journal of Human Genetics . 74 . 6 . 1303–8 . June 2004 . 15108122 . 1182096 . 10.1086/421530 .