Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition

• Published in: Nature genetics Vol. 53; no. 5; pp. 707 - 718
• Main Authors: Inoue, Daichi, Polaski, Jacob T., Taylor, Justin, Castel, Pau, Chen, Sisi, Kobayashi, Susumu, Hogg, Simon J., Hayashi, Yasutaka, Pineda, Jose Mario Bello, El Marabti, Ettaib, Erickson, Caroline, Knorr, Katherine, Fukumoto, Miki, Yamazaki, Hiromi, Tanaka, Atsushi, Fukui, Chie, Lu, Sydney X., Durham, Benjamin H., Liu, Bo, Wang, Eric, Mehta, Sanjoy, Zakheim, Daniel, Garippa, Ralph, Penson, Alex, Chew, Guo-Liang, McCormick, Frank, Bradley, Robert K., Abdel-Wahab, Omar
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.05.2021; Nature Publishing Group
• Subjects: 38/91; 45/70; 45/91; 631/337/2019; 64; 64/60; 692/699/67/1990; 692/699/67/1990/1673; 692/699/67/1990/283; 692/699/67/71; 96/100; 96/31; Agriculture; Animal Genetics and Genomics; Animals; Base Sequence; Biomedical and Life Sciences; Biomedicine; Cancer; Cancer Research; Cell cycle; Cell Self Renewal; Cell Transformation, Neoplastic - pathology; Clone Cells; CRISPR; CRISPR-Cas Systems - genetics; Development and progression; Eukaryotes; Female; Females; Gene Function; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetic susceptibility; Genome, Human; Health aspects; Hematologic Diseases - genetics; Hematologic Diseases - pathology; Hematopoiesis; Hematopoietic stem cells; Hematopoietic Stem Cells - metabolism; Human Genetics; Humans; Introns; Introns - genetics; Leukemia; Male; Mice; Mice, Knockout; Mimicry; mRNA; mRNA turnover; Mutation; Myelodysplastic syndromes; Neoplasms - genetics; Noonan Syndrome - genetics; Noonan's syndrome; Oncology, Experimental; Pedigree; Proteins; Retention; Ribonucleoproteins - genetics; Ribonucleoproteins - metabolism; RNA - metabolism; RNA splicing; RNA Splicing - genetics; Solid tumors; Spleen - pathology; Splicing; Stem cells; Transcription Factors - genetics; Tumors; X chromosomes; Japan

Most eukaryotes harbor two distinct pre-mRNA splicing machineries: the major spliceosome, which removes >99% of introns, and the minor spliceosome, which removes rare, evolutionarily conserved introns. Although hypothesized to serve important regulatory functions, physiologic roles of the minor s...