Genetic Analysis of Human RNA Binding Motif Protein 48 (RBM48) Reveals an Essential Role in U12-Type Intron Splicing

Abstract excerpt

U12-type or minor introns are found in most multicellular eukaryotes and constitute ∼0.5% of all introns in species with a minor spliceosome. Although the biological significance for evolutionary conservation of U12-type introns is debated, mutations disrupting U12 splicing cause developmental defects in both plants and animals. In human hematopoietic stem cells, U12 splicing defects disrupt proper differentiation...

Topics

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• Endosperm
• Eukaryotic Cells
• Nucleotide Motifs
• Position-Specific Scoring Matrices
• RNA Isoforms
• RNA, Small Nuclear
• RNA Splice Sites
• Splicing Factor U2AF

Identifiers and source

Literature Corpus work

7f70154a-c730-541d-9276-a4f55c8b5a38

DOI

10.1101/2020.07.18.209528