Brief noteThe human gene encoding the largest subunit of RNA polymerase II
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Cloning and sequence analysis of the mouse genomic locus encoding the largest subunit of RNA polymerase II
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Cited by (16)
Construction of a high-density genetic linkage map and QTL mapping for growth traits in gynogenetic brown-marbled grouper (Epinephelus fuscoguttatus)
2022, AquacultureCitation Excerpt :In the present study, all progenies were cultured in the same environment, which relates to the correlation between vision and feeding, leading to growth differences. DNA-directed RNA polymerase II subunit RPB1 (polr2a) encodes the RNA polymerase II subunit B1 (RPB1) protein, the largest subunit of the RNA polymerase II (pol II) enzyme (Mita et al., 1995) The pol II enzyme complex involved in the transcription of genes encoding proteins or long/short non-coding RNAs, which plays a pivotal role in the regulation of gene expression (Hansen et al., 2021). This gene may affect the growth of gynogenetic brown-marbled grouper by regulating gene expression.
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum
2022, Brain and DevelopmentCitation Excerpt :POLR2A (OMIM *180660) encodes the RNA polymerase II subunit B1 (RPB1) protein, the largest subunit of the RNA polymerase II (pol II) enzyme [1,2].
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance
2020, American Journal of Human GeneticsCitation Excerpt :An illustrative example is KMT2D (Figure S2). First, even though this gene is broadly expressed across tissues in GTEx, its canonical promoter shows POLR2A (the major subunit of RNA PolII complex24,25) ChIP-seq peaks in only 4 ENCODE experiments (out of 74 total). Even though there does exist a non-canonical transcript whose promoter has POLR2A signal in 59 experiments (as would be expected for a broadly expressed gene since binding of the RNA PolII complex is the main hallmark of transcriptional initiation at protein-coding gene promoters), that non-canonical transcript has an unusually short coding sequence, which does not even encode for the catalytic SET domain.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
2019, American Journal of Human GeneticsCitation Excerpt :Human POLR2A (MIM: 180660) encodes the highly-conserved RPB1 protein, which is the largest of twelve subunits of the essential RNA polymerase II (pol II) enzyme.1,2