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Biallelic BRF2 mutations cause syndromic immunodeficiency and change RNA polymerase III-mediated transcription

GSE280098 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2024/11/06 Platform GPL20795
Summary
TFIIB-related factor 2 (BRF2) crucially recruits RNA polymerase III (Pol III) to type III promoters containing a TATA box. These promoters encompass crucial components such as U6 spliceosomal RNA, tRNA processing enzyme RNase P, and selenocysteine tRNA. The results on cancer occurrence due to overexpression of BRF2 are known, but genetic disorders caused by mutations in BRF2 are still not well understood. Here, we first identified biallelic BRF2 variants exhibiting defective RNA Pol III activity to type III promoter in a familial patient presenting multiple anomalous features and primary immunodeficiency.
Published in
Biallelic BRF2 mutations disrupt redox homeostasis as etiological factors in syndromic immunodeficiency and developmental disorders
Yoon S, Lee S, Kwon H et al. · Molecular therapy : the journal of the American Society of Gene Therapy 2025 · PMID 40781771 · doi:10.1016/j.ymthe.2025.08.006
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Also filed as BioProject PRJNA1176264 and SRA study SRP540255. Searching any of these in the dataset finder brings you back here.

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