Pus3 Reference Search Result - Rat Genome Database

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RGD ID	Title	Citation	Abstract	PubMed	Pub Date
11531490	A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.	Shaheen R, etal., Hum Genet. 2016 Jul;135(7):707-13. doi: 10.1007/s00439-016-1665-7. Epub 2016 Apr 7.	Intellectual disability is a common and highly heterogeneous disorder etiologically. In a multiplex consanguineous family, we applied autozygosity mapping and exome sequencing and identified a novel homozygous truncating mutation in PUS3 that fully segregates wi ... (more) th the intellectual disability phenotype. Consistent with the known role of Pus3 in isomerizing uracil to pseudouridine at positions 38 and 39 in tRNA, we found a significant reduction in this post-transcriptional modification of tRNA in patient cells. Our finding adds to a growing list of intellectual disability disorders that are caused by perturbation of various tRNA modifications, which highlights the sensitivity of the brain to these highly conserved processes.	27055666	2016-09-01