CNOT3 contributes to early B cell development by controlling Igh rearrangement and p53 mRNA stability.
Journal of Experimental Medicine 212(9):1465 (2015)
The CCR4-NOT deadenylase complex plays crucial roles in mRNA decay and translational repression induced by poly(A) tail shortening. Although the in vitro activities of each component of this complex have been well characterized, its in vivo role in immune cells remains unclear. Here we show that...
Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia.
Blood 123(21):3336 (2014)
Numerous studies have recently reported mutations involving multiple components of the messenger RNA (mRNA) splicing machinery in patients with myelodysplastic syndrome (MDS). SF3B1 is mutated in 70% to 85% of refractory anemia with ringed sideroblasts (RARS) patients and is highly associated wi...
Polycomb potentiates meis2 activation in midbrain by mediating interaction of the promoter with a tissue-specific enhancer.
Developmental Cell 28(1):94 (2014)
Polycomb-group (PcG) proteins mediate repression of developmental regulators in a reversible manner, contributing to their spatiotemporally regulated expression. However, it is poorly understood how PcG-repressed genes are activated by developmental cues. Here, we used the mouse Meis2 gene as a ...
Polycomb group protein Ezh2 regulates hepatic progenitor cell proliferation and differentiation in murine embryonic liver.
PLoS ONE 9(8):e104776 (2014)
In embryonic liver, hepatic progenitor cells are actively proliferating and generate a fundamental cellular pool for establishing parenchymal components. However, the molecular basis for the expansion of the progenitors maintaining their immature state remains elusive. Polycomb group proteins re...
Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts.
Journal of Hematology & Oncology 7(1):89 (2014)
The presence of somatic mutations in splicing factor 3b subunit 1 (SF3B1) in patients with Myelodysplastic syndromes with ring sideroblasts (MDS-RS) highlights the importance of the RNA-splicing machinery in MDS. We previously reported the presence of bone marrow (BM) RS in Sf3b1 heterozygous (S...
SAM domain polymerization links subnuclear clustering of PRC1 to gene silencing.
Developmental Cell 26(6):565 (2013)
The Polycomb-group (PcG) repressive complex-1 (PRC1) forms microscopically visible clusters in nuclei; however, the impact of this cluster formation on transcriptional regulation and the underlying mechanisms that regulate this process remain obscure. Here, we report that the sterile alpha motif...
SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.
Blood 120(16):3173 (2012)
Whole exome/genome sequencing has been fundamental in the identification of somatic mutations in the spliceosome machinery in myelodysplastic syndromes (MDSs) and other hematologic disorders. SF3B1, splicing factor 3b subunit 1 is mutated in 60%-80% of refractory anemia with ring sideroblasts (R...
Involvement of the Hipk family in regulation of eyeball size, lens formation and retinal morphogenesis.
FEBS Letters 584(14):3233 (2010)
Members of the homeodomain-interacting protein kinase (HIPK) family are involved in various intracellular regulatory mechanisms. The present study focused on clarifying the functions of HIPK family members in ocular organization during late embryogenesis. HIPK1 and HIPK2 were expressed in the in...
Nuclear inhibitor of protein phosphatase-1 (NIPP1) directs protein phosphatase-1 (PP1) to dephosphorylate the U2 small nuclear ribonucleoprotein particle (snRNP) component, spliceosome-associated protein 155 (Sap155).
Journal of Biological Chemistry 283(51):35805 (2008)
Pre-mRNA splicing entails reversible phosphorylation of spliceosomal proteins. Recent work has revealed essential roles for Ser/Thr phosphatases, such as protein phosphatase-1 (PP1), in splicing, but how these phosphatases are regulated is largely unknown. We show that nuclear inhibitor of PP1 (...
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Nature Medicine 13(11):1363 (2007)
Proteoglycans are a family of extracellular macromolecules comprised of glycosaminoglycan chains of a repeated disaccharide linked to a central core protein. Proteoglycans have critical roles in chondrogenesis and skeletal development. The glycosaminoglycan chains found in cartilage proteoglycan...
Roles of HIPK1 and HIPK2 in AML1- and p300-dependent transcription, hematopoiesis and blood vessel formation.
EMBO Journal 25(17):3955 (2006)
Histone acetyltransferases (HATs) p300 and CREB-binding protein (CBP) function as co-activators for a variety of sequence-specific transcription factors, including AML1. Here, we report that homeodomain-interacting protein kinase-2 (HIPK2) forms a complex with AML1 and p300, and phosphorylates b...
Overlapping roles for homeodomain-interacting protein kinases hipk1 and hipk2 in the mediation of cell growth in response to morphogenetic and genotoxic signals.
Molecular and Cellular Biology 26(7):2758 (2006)
Homeodomain-interacting protein kinase 1 (Hipk1), 2, and 3 genes encode evolutionarily conserved nuclear serine/threonine kinases, which were originally identified as interacting with homeodomain-containing proteins. Hipks have been repeatedly identified as interactors for a vast range of functi...
Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1.
Genes & Development 19(5):536 (2005)
Polycomb group (PcG) proteins are responsible for the stable repression of homeotic (Hox) genes by forming multimeric protein complexes. We show (1) physical interaction between components of the U2 small nuclear ribonucleoprotein particle (U2 snRNP), including Sf3b1 and PcG proteins Zfp144 and ...
Dissociation of mammalian Polycomb-group proteins, Ring1B and Rae28/Ph1, from the chromatin correlates with configuration changes of the chromatin in mitotic and meiotic prophase.
Histochemistry and Cell Biology 120(2):111 (2003)
The Polycomb group (PcG) gene products form complexes that regulate chromatin configuration to mediate cellular memory to postmitotic somatic cells and postmeiotic oocytes in Drosophila melanogaster. Structural and functional similarities of PcG proteins between invertebrates and vertebrates sug...
Generation of a monoclonal antibody against the mouse Sf3b1 (SAP155) gene product for U2 snRNP component of spliceosome.
Hybridoma and Hybridomics 22(2):117 (2003)
SAP155 is a subunit of the U2 snRNP, and plays an important role for prespliceosome assembly and splicing catalysis of the major spliceosome. Recently, it was reported that SAP155 was also a subunit of the minor spliceosome. These suggest that SAP155 is essential for the removal of any type of i...
The mouse Edr2 (Mph2) gene has two forms of mRNA encoding 90- and 36-kDa polypeptides.
Gene 288(1-2):103 (2002)
The vertebrate Polycomb Group (PcG) genes encode proteins that form large multimeric and chromatin-associated complexes implicated in the stable repression of developmentally essential genes. Here we have isolated a 2.5-kb cDNA for Edr2, a mouse homolog of the Drosophila PcG gene Ph, although it...
Mouse Homologue ofcoq7/clk-1,Longevity Gene inCaenorhabditis elegans, Is Essential for Coenzyme Q Synthesis, Maintenance of Mitochondrial Integrity, and Neurogenesis
Biochemical and Biophysical Research Communicat... 289(2):463 (2001)
coq7/clk-1 was isolated from a long-lived mutant of Caenorhabditis elegans, which showed sluggish behavior and an extended life span. Mouse coq7 is homologous to Saccharomyces cerevisiae coq7/cat5 that is required for biosynthesis of coenzyme Q (CoQ), an essential cofactor in mitochond...
Molecular cloning of a cDNA encoding a novel Ca2+-dependent nuclease ofArabidopsisthat is similar to staphylococcal nuclease1 The nucleotide sequence data reported will appear in the EMBL, GenBank, and DDBJ under the accession number D84226.1
Biochimica et Biophysica Acta (BBA) - Gene Stru... 1491(1):267 (2000)
We have isolated a cDNA from
Arabidopsis thaliana for a protein consisting of 323 amino acids with similarity to an extracellular nuclease from
Staphylococcus. Nuclease assay using toluidine blue-DNA plates has demonstrated that the gene product has nuclease activity dependent...