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ProteomicsNovel biallelic mutations in POLR1A: expansion of the phenotype and insight into the molecular mechanism
The eukaryotic genome is transcribed by three RNA polymerases (Pol) I, II and III; each transcribing different classes of RNAs. Pol I transcribes ribosomal DNA and produces the polycistronic rRNA 47S, which releases 28S, 18S and 5.8S rRNAs. Heterozygous mutations in the Pol I subunit POLR1A have bee...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD017431 | Pride
Polr1a Rna polymerase i Defective rrna processing  neurodegenerative disease  seizures  childhood disease 
GenomicsHeterozygous variants in POLR1A cause diverse human phenotypes
Heterozygous variants in POLR1A cause diverse human phenotypes
PRJNA849583 | ENA
TranscriptomicsHeterozygous variants in POLR1A cause diverse human phenotypes
Heterozygous pathogenic variants in POLR1A were identified as the cause of Acrofacial Dysostosis, Cincinnati-type in 2015. Craniofacial anomalies reminiscent of Treacher Collins syndrome were the predominant phenotype observed in the first 3 affected individuals. We have subsequently identified 17 a...
ORGANISM(S): Mus musculus 
2022-08-15 | GSE206197 | GEO
UnknownA homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Not available
S-EPMC10393412 | biostudies-literature
UnknownPOLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Not available
S-EPMC10183370 | biostudies-literature
UnknownSevere neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Not available
S-EPMC5334463 | biostudies-literature
UnknownPOLR1A inhibits ferroptosis by regulating TFAM-mediated mitophagy and iron homeostasis.
Not available
S-EPMC12281011 | biostudies-literature
UnknownAcrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Not available
S-EPMC4570288 | biostudies-literature
OtherIn vivo CRISPR knockout screen reveals Polr1a as a key driver and a potential therapeutic target for melanoma metastasis.
Identification and characterization of novel mechanisms driving melanoma metastases and ways to target them are paramount for the development of effective treatment modalities. We demonstrated that higher Polr1a levels correlate with increased metastasis and reduced survival in patients. In this stu...
ORGANISM(S): Mus musculus 
2026-06-11 | GSE314397 | GEO
GenomicsIn vivo CRISPR knockout screen reveals Polr1a as a key driver and a potential therapeutic target for melanoma metastasis [Ribo-Seq]
In vivo CRISPR knockout screen reveals Polr1a as a key driver and a potential therapeutic target for melanoma metastasis [Ribo-Seq]
PRJNA1292197 | ENA
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