Function of alternative splicing
S Stamm, S Ben-Ari, I Rafalska, Y Tang, Z Zhang… - Gene, 2005 - Elsevier
Alternative splicing is one of the most important mechanisms to generate a large number of
mRNA and protein isoforms from the surprisingly low number of human genes. Unlike …
mRNA and protein isoforms from the surprisingly low number of human genes. Unlike …
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
A Pellagatti, RN Armstrong, V Steeples… - Blood, The Journal …, 2018 - ashpublications.org
Abstract SF3B1, SRSF2, and U2AF1 are the most frequently mutated splicing factor genes in
the myelodysplastic syndromes (MDS). We have performed a comprehensive and …
the myelodysplastic syndromes (MDS). We have performed a comprehensive and …
Unraveling the pathogenesis of non‐alcoholic fatty liver diseases through genome‐wide association studies
Non‐alcoholic fatty liver disease (NAFLD) is a significant health burden around the world,
affecting approximately 25% of the population. Recent advances in human genetic …
affecting approximately 25% of the population. Recent advances in human genetic …
DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer
SF3B1 is the most frequently mutated spliceosomal gene in cancer. Several hotspot
mutations are known to disrupt the interaction of SF3B1 with another splicing factor, SUGP1 …
mutations are known to disrupt the interaction of SF3B1 with another splicing factor, SUGP1 …
Disease-causing mutations in SF3B1 alter splicing by disrupting interaction with SUGP1
SF3B1, which encodes an essential spliceosomal protein, is frequently mutated in
myelodysplastic syndromes (MDS) and many cancers. However, the defect of mutant SF3B1 …
myelodysplastic syndromes (MDS) and many cancers. However, the defect of mutant SF3B1 …
Characterization of the SF3B1–SUGP1 interface reveals how numerous cancer mutations cause mRNA missplicing
The spliceosomal gene SF3B1 is frequently mutated in cancer. While it is known that SF3B1
hotspot mutations lead to loss of splicing factor SUGP1 from spliceosomes, the cancer …
hotspot mutations lead to loss of splicing factor SUGP1 from spliceosomes, the cancer …
Genome-scale requirements for dynein-based transport revealed by a high-content arrayed CRISPR screen
The microtubule motor dynein plays a key role in cellular organization. However, little is
known about how dynein's biosynthesis, assembly, and functional diversity are orchestrated …
known about how dynein's biosynthesis, assembly, and functional diversity are orchestrated …
Re-evaluation of the role of calcium homeostasis endoplasmic reticulum protein (CHERP) in cellular calcium signaling
Changes in cytoplasmic Ca 2+ concentration, resulting from activation of intracellular Ca 2+
channels within the endoplasmic reticulum, regulate several aspects of cellular growth and …
channels within the endoplasmic reticulum, regulate several aspects of cellular growth and …
Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers
S Alsafadi, S Dayot, M Tarin, A Houy, D Bellanger… - Oncogene, 2021 - nature.com
Genes involved in 3′-splice site recognition during mRNA splicing constitute an emerging
class of oncogenes. SF3B1 is the most frequently mutated splicing factor in cancer, and …
class of oncogenes. SF3B1 is the most frequently mutated splicing factor in cancer, and …
Structural basis for the interaction between the first SURP domain of the SF3A1 subunit in U2 snRNP and the human splicing factor SF1
N Nameki, M Takizawa, T Suzuki, S Tani… - Protein …, 2022 - Wiley Online Library
SURP domains are exclusively found in splicing‐related proteins in all eukaryotes. SF3A1, a
component of the U2 snRNP, has two tandem SURP domains, SURP1, and SURP2. SURP2 …
component of the U2 snRNP, has two tandem SURP domains, SURP1, and SURP2. SURP2 …