Genomes and Genes
Experts and Doctors on nuclear proteins in Edmonton, Alberta, Canada
Locale: Edmonton, Alberta, Canada
Topic: nuclear proteins
- MacDonald H, Wevrick R. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet. 1997;6:1873-8 pubmed..NDN is expressed exclusively from the paternally inherited allele in human fibroblasts. Loss of necdin gene expression may contribute to the disorder of brain development in individuals with PWS. ..
- Maeda T, Hanna A, Sim A, Chua P, Chong M, Tron V. GADD45 regulates G2/M arrest, DNA repair, and cell death in keratinocytes following ultraviolet exposure. J Invest Dermatol. 2002;119:22-6 pubmed..Thus, GADD45 plays an important role in maintaining genomic integrity in ultraviolet-exposed skin. ..
- Pilquil C, Singh I, Zhang Q, Ling Z, Buri K, Stromberg L, et al. Lipid phosphate phosphatase-1 dephosphorylates exogenous lysophosphatidate and thereby attenuates its effects on cell signalling. Prostaglandins Other Lipid Mediat. 2001;64:83-92 pubmed..LPP-1 therefore provides a novel level of regulation for controlling cell signalling by exogenous LPA. ..
- Andrin C, Hendzel M. F-actin-dependent insolubility of chromatin-modifying components. J Biol Chem. 2004;279:25017-23 pubmed
- Whiteside D, McLeod R, Graham G, Steckley J, Booth K, Somerville M, et al. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Cancer Res. 2002;62:359-62 pubmed..Because the hematological malignancies observed in the individuals homozygous for the loss of MMR are reflective of the lymphomas seen in mice lacking MMR, the mice may provide a useful model for human neoplasia. ..
- Deng H, Hughes S, Bell J, Simmonds A. Alternative requirements for Vestigial, Scalloped, and Dmef2 during muscle differentiation in Drosophila melanogaster. Mol Biol Cell. 2009;20:256-69 pubmed publisher..Thus, the muscle-specific phenotypes we have associated with Vg or Sd may be a consequence of alternative binding of Vg and/or Sd to Dmef2 forming alternative protein complexes that modify Dmef2 activity. ..
- Lines M, Kozlowski K, Walter M. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet. 2002;11:1177-84 pubmed
- Ismail I, Andrin C, McDonald D, Hendzel M. BMI1-mediated histone ubiquitylation promotes DNA double-strand break repair. J Cell Biol. 2010;191:45-60 pubmed publisher..These data uncover an unexpected link between the polycomb and the DNA damage response pathways, and suggest a novel function for BMI1 in maintaining genomic stability. ..
- Sims T, Goes N, Ramassar V, Urmson J, Halloran P. In vivo class II transactivator expression in mice is induced by a non-interferon-gamma mechanism in response to local injury. Transplantation. 1997;64:1657-64 pubmed..The similarities of the pattern of CIITA and class II induction in ischemic and toxic injury suggest that this is a stereotyped response of injured tissue and not a consequence of a particular mechanism of injury. ..
- Lau J, Hanel M, Wevrick R. Tissue-specific and imprinted epigenetic modifications of the human NDN gene. Nucleic Acids Res. 2004;32:3376-82 pubmed..These results suggest that DNA methylation and histone H3 lysine 4 methylation are persistent markers of imprinted gene regulation while histone acetylation participates in tissue-specific activity and silencing in somatic cells. ..
- Chow L, Berube J, Fromont A, Bell J. Ability of scalloped deletion constructs to rescue sd mutant wing phenotypes in Drosophila melanogaster. Genome. 2004;47:849-59 pubmed..Finally, a significant portion of SD at the N-terminal end appears to be dispensable with respect to normal wing development, as this construct behaves the same as full length SD in our assays. ..
- Wu H, Zeinab R, Flores E, Leng R. Pirh2, a ubiquitin E3 ligase, inhibits p73 transcriptional activity by promoting its ubiquitination. Mol Cancer Res. 2011;9:1780-90 pubmed publisher..Furthermore, the data suggest a link between the transcriptional activity of p73 and its ubiquitination. ..
- Srivastava A, Bell J. Further developmental roles of the Vestigial/Scalloped transcription complex during wing development in Drosophila melanogaster. Mech Dev. 2003;120:587-96 pubmed..Thus, the relationship between sd and senseless (sens) in the development of these cells is also examined, and it appears that sd must be functional for proper sens expression, and ultimately, for sensory organ precursor development. ..
- Yao S, Ng A, Muzyka W, Griffiths M, Cass C, Baldwin S, et al. Molecular cloning and functional characterization of nitrobenzylthioinosine (NBMPR)-sensitive (es) and NBMPR-insensitive (ei) equilibrative nucleoside transporter proteins (rENT1 and rENT2) from rat tissues. J Biol Chem. 1997;272:28423-30 pubmed..These observations demonstrate that es and ei nucleoside transport activities are mediated by separate, but homologous, proteins and establish a function for the HNP36 gene product. ..
- Ren J, Lee S, Pagliardini S, Gerard M, Stewart C, Greer J, et al. Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice. J Neurosci. 2003;23:1569-73 pubmed..We propose that necdin deficiency may contribute to observed respiratory abnormalities in individuals with Prader-Willi syndrome through a similar suppression of central respiratory drive. ..
- Tennese A, Gee C, Wevrick R. Loss of the Prader-Willi syndrome protein necdin causes defective migration, axonal outgrowth, and survival of embryonic sympathetic neurons. Dev Dyn. 2008;237:1935-43 pubmed publisher..Furthermore, reduced sympathetic function provides a plausible explanation for deficiencies of salivary gland function in individuals with congenital necdin deficiency consequent to Prader-Willi syndrome. ..
- Famulski J, Chan G. Aurora B kinase-dependent recruitment of hZW10 and hROD to tensionless kinetochores. Curr Biol. 2007;17:2143-9 pubmed..We therefore conclude that Aurora B kinase activity is required for the accumulation of tension-sensitive mitotic-checkpoint components, such as hZW10 and hROD, in order to maintain mitotic-checkpoint arrest. ..
- Leung C, Sun L, Gong Z, Burkat M, Edwards R, Assmus M, et al. Structural insights into recognition of MDC1 by TopBP1 in DNA replication checkpoint control. Structure. 2013;21:1450-9 pubmed publisher..Mutations in this surface reduce binding affinity and recruitment of TopBP1 to γH2AX foci in cells. These studies reveal a different mode of phosphopeptide binding by BRCT domains in the DNA damage response. ..
- Gordon M, El Kalla M, Zhao Y, Fiteih Y, Law J, Volodko N, et al. The tumor suppressor gene, RASSF1A, is essential for protection against inflammation -induced injury. PLoS ONE. 2013;8:e75483 pubmed publisher..Failure to restrict NFÎºB resulted in the inflammation-induced DNA damage driven tyrosine phosphorylation of YAP, subsequent p53 accumulation and loss of intestinal epithelial homeostasis. ..
- Leung G, Brown J, Glover J, Kobor M. Rtt107 BRCT domains act as a targeting module in the DNA damage response. DNA Repair (Amst). 2016;37:22-32 pubmed publisher..Together this data revealed a key function of the Rtt107 BRCT domains for targeting of both itself and its interaction partners to DNA lesions. ..
- Maeda T, Espino R, Chomey E, Luong L, Bano A, Meakins D, et al. Loss of p21WAF1/Cip1 in Gadd45-deficient keratinocytes restores DNA repair capacity. Carcinogenesis. 2005;26:1804-10 pubmed..These results support the hypothesis that Gadd45 enhances NER by negatively regulating basal p21 expression in keratinocytes. ..
- Arutyunov D, Arenson B, Manchak J, Frost L. F plasmid TraF and TraH are components of an outer membrane complex involved in conjugation. J Bacteriol. 2010;192:1730-4 pubmed publisher..Mutational analysis of TraH revealed two domains that are important for its function and possible interaction with TrbI, which in turn has a role in stabilizing TraH. ..
- Guo L, Nakamura K, Lynch J, Opas M, Olson E, Agellon L, et al. Cardiac-specific expression of calcineurin reverses embryonic lethality in calreticulin-deficient mouse. J Biol Chem. 2002;277:50776-9 pubmed..These findings show that calreticulin and calcineurin play fundamental roles in Ca(2+)-dependent pathways essential for normal cardiac development and explain the molecular basis for the rescue of calreticulin-deficient phenotype. ..
- Vos L, Famulski J, Chan G. hZwint-1 bridges the inner and outer kinetochore: identification of the kinetochore localization domain and the hZw10-interaction domain. Biochem J. 2011;436:157-68 pubmed publisher..The two domains are at opposite ends of the protein as expected for a protein that bridges the inner and outer kinetochore. ..
- Price D, Jin Z, Rabinovitch S, Campbell S. Ectopic expression of the Drosophila Cdk1 inhibitory kinases, Wee1 and Myt1, interferes with the second mitotic wave and disrupts pattern formation during eye development. Genetics. 2002;161:721-31 pubmed..We also observed interactions with p53, which suggest that Wee1 and Myt1 activity can block apoptosis. ..
- Gbaguidi G, Agellon L. The inhibition of the human cholesterol 7alpha-hydroxylase gene (CYP7A1) promoter by fibrates in cultured cells is mediated via the liver x receptor alpha and peroxisome proliferator-activated receptor alpha heterodimer. Nucleic Acids Res. 2004;32:1113-21 pubmed..The ligand-dependent recruitment of LXRalpha:PPARalpha heterodimer onto the human CYP7A1 Site I can explain the inhibition of the human CYP7A1 gene promoter in response to fibrates and 25-hydroxycholesterol...
- Iouk T, Aitchison J, Maguire S, Wozniak R. Rrb1p, a yeast nuclear WD-repeat protein involved in the regulation of ribosome biosynthesis. Mol Cell Biol. 2001;21:1260-71 pubmed..In contrast, depletion of RRB1 caused an increase in the expression of all RP genes examined except RPL3. These results suggest that Rrb1p regulates RPL3 expression and uncouples it from the coordinated expression of other RP genes. ..
- Shen Q, Rahn J, Zhang J, Gunasekera N, Sun X, Shaw A, et al. MUC1 initiates Src-CrkL-Rac1/Cdc42-mediated actin cytoskeletal protrusive motility after ligating intercellular adhesion molecule-1. Mol Cancer Res. 2008;6:555-67 pubmed publisher..These findings suggest a novel MUC1-Src-CrkL-Rac1/Cdc42 signaling cascade following ICAM-1 ligation, through which MUC1 regulates cytoskeletal reorganization and directed cell motility during cell migration. ..
- MacKay J, Soanes K, Srivastava A, Simmonds A, Brook W, Bell J. An in vivo analysis of the vestigial gene in Drosophila melanogaster defines the domains required for Vg function. Genetics. 2003;163:1365-73 pubmed..The results also indicate that an additional large portion of VG, outside of these two domains and the SD-binding domain, is dispensable in the execution of these normal VG functions. ..
- Trichet V, Shkolny D, Dunham I, Beare D, McDermid H. Mapping and complex expression pattern of the human NPAP60L nucleoporin gene. Cytogenet Cell Genet. 1999;85:221-6 pubmed..Somatic cell hybrid mapping revealed additional related copies of NPAP60L on human chromosomes 5, 6, and 14, although it is not known if these are functional genes. ..
- Williams D, Sutherland L, Bomhof M, Basaraba S, Thrush A, Dyck D, et al. Muscle-specific differences in the response of mitochondrial proteins to beta-GPA feeding: an evaluation of potential mechanisms. Am J Physiol Endocrinol Metab. 2009;296:E1400-8 pubmed publisher..The lack of an effect of beta-GPA feeding on mitochondrial proteins in the soleus muscles could be related to a fiber type-specific effect of beta-GPA on RIP140 protein content. ..
- Deng H, Bell J, Simmonds A. Vestigial is required during late-stage muscle differentiation in Drosophila melanogaster embryos. Mol Biol Cell. 2010;21:3304-16 pubmed publisher..Thus, Vg is a key factor to induce specific changes in ventral longitudinal muscles 1-4 identity and is required for these cells to be competent to form stable intermuscular attachments with each other. ..
- Sameny A, Locke J. The P-element-induced silencing effect of KP transposons is dose dependent in Drosophila melanogaster. Genome. 2011;54:752-62 pubmed publisher..A logarithmic dose dependency is consistent with the KP products interacting with heterochromatic proteins in a concentration-dependent manner such that two molecules are needed to induce gene silencing. ..
- Lapetina D, Ptak C, Roesner U, Wozniak R. Yeast silencing factor Sir4 and a subset of nucleoporins form a complex distinct from nuclear pore complexes. J Cell Biol. 2017;216:3145-3159 pubmed publisher..We propose that this Sir4-associated Nup complex is distinct from holo-NPCs and that it plays a role in subtelomeric chromatin organization and NE tethering. ..
- Hobart M, Ramassar V, Goes N, Urmson J, Halloran P. IFN regulatory factor-1 plays a central role in the regulation of the expression of class I and II MHC genes in vivo. J Immunol. 1997;158:4260-9 pubmed..Thus, in vivo, IRF-1 plays a major role in basal and induced class I expression and in induction of class II by IFN-gamma, probably via CIITA induction. ..
- McManus K, Hendzel M. CBP, a transcriptional coactivator and acetyltransferase. Biochem Cell Biol. 2001;79:253-66 pubmed..We will also examine the regulation of the CBP histone acetyltransferase activity in the cell cycle, by signal-transduction pathways and throughout development...
- Gbaguidi G, Agellon L. The atypical interaction of peroxisome proliferator-activated receptor alpha with liver X receptor alpha antagonizes the stimulatory effect of their respective ligands on the murine cholesterol 7alpha-hydroxylase gene promoter. Biochim Biophys Acta. 2002;1583:229-36 pubmed..The LXRalpha:PPARalpha heterodimer may be important in coordinating the expression of genes that encode proteins involved in metabolism of fats and cholesterol. ..
- Kamnasaran D, O Brien P, Zackai E, Muenke M, Ferguson Smith M, Cox D. Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. Eur J Hum Genet. 2003;11:315-24 pubmed..The finding of two breaks on chromosome 4q25 suggests a complex microrearrangement, such as an inversion, in addition to a translocation in this patient. ..
- Pagliardini S, Ren J, Wevrick R, Greer J. Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin. Am J Pathol. 2005;167:175-91 pubmed
- Staveley B, Heslip T, Hodgetts R, Bell J. Protected P-element termini suggest a role for inverted-repeat-binding protein in transposase-induced gap repair in Drosophila melanogaster. Genetics. 1995;139:1321-9 pubmed..The structure of the filler sequences suggests replication slippage may occur during the process of gap repair. ..
- Campbell S, Edwards R, Glover J. Comparison of the structures and peptide binding specificities of the BRCT domains of MDC1 and BRCA1. Structure. 2010;18:167-76 pubmed publisher..A mutation in MDC1 that induces a more BRCA1-like conformation relaxes the binding specificity, allowing the mutant to bind phosphopeptides lacking a -COO(-) terminus. ..
- Scott R, Cairo L, Van de Vosse D, Wozniak R. The nuclear export factor Xpo1p targets Mad1p to kinetochores in yeast. J Cell Biol. 2009;184:21-9 pubmed publisher..These results reveal an important function for Xpo1p in mediating intranuclear transport events and identify a signaling pathway between kinetochores and NPCs. ..
- Lee S, Walker C, Karten B, Kuny S, Tennese A, O Neill M, et al. Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Hum Mol Genet. 2005;14:627-37 pubmed..We further suggest that loss of necdin contributes to the neurological phenotype of PWS, and raise the possibility that co-deletion of necdin and the related protein Magel2 may explain the lack of single gene mutations in PWS. ..
- Kok B, Kienesberger P, Dyck J, Brindley D. Relationship of glucose and oleate metabolism to cardiac function in lipin-1 deficient (fld) mice. J Lipid Res. 2012;53:105-18 pubmed publisher..However, lipin-1 deficiency increases the accumulation of newly synthesized phosphatidate and induces aberrant cell signaling. ..
- Sims T, Afrouzian M, Urmson J, Zhu L, Halloran P. The role of the class II transactivator (CIITA) in MHC class I and II regulation and graft rejection in kidney. Am J Transplant. 2001;1:211-21 pubmed..Thus CIITA-deficient kidneys have no basal and induced class II expression but display intense induction of class I expression, and evoke typical rejection lesions, although some indices of infiltration are reduced at day 21. ..
- Scott R, Lusk C, Dilworth D, Aitchison J, Wozniak R. Interactions between Mad1p and the nuclear transport machinery in the yeast Saccharomyces cerevisiae. Mol Biol Cell. 2005;16:4362-74 pubmed..Our further analysis also showed that only the C terminus of Mad1p is required for SAC function and that the NPC, through Nup53p, may act to regulate the duration of the SAC response. ..
- Kulak S, Kozlowski K, Semina E, Pearce W, Walter M. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 1998;7:1113-7 pubmed..This wide variability in clinical consequences of mutations at the RIEG1 4q25 locus implicates the RIEG gene broadly in ocular and craniofacial disorders. ..
- Marelli M, Aitchison J, Wozniak R. Specific binding of the karyopherin Kap121p to a subunit of the nuclear pore complex containing Nup53p, Nup59p, and Nup170p. J Cell Biol. 1998;143:1813-30 pubmed..Interestingly, Nup53p is specifically phosphorylated during mitosis. This phenomenon is correlated with a transient decrease in perinuclear-associated Kap121p. ..
- Price D, Rabinovitch S, O Farrell P, Campbell S. Drosophila wee1 has an essential role in the nuclear divisions of early embryogenesis. Genetics. 2000;155:159-66 pubmed..These findings imply that inhibitory phosphorylation of Cdk1 by Dwee1 is required for proper regulation of the early syncytial cycles of embryogenesis. ..
- Hodgetts R, O Keefe S. The mutant phenotype associated with P-element alleles of the vestigial locus in Drosophila melanogaster may be caused by a readthrough transcript initiated at the P-element promoter. Genetics. 2001;157:1665-72 pubmed
- Ismail I, Gagné J, Caron M, McDonald D, Xu Z, Masson J, et al. CBX4-mediated SUMO modification regulates BMI1 recruitment at sites of DNA damage. Nucleic Acids Res. 2012;40:5497-510 pubmed publisher..The importance of CBX4 in the DDR was confirmed by the depletion of CBX4, which resulted in decreased cellular resistance to ionizing radiation. Our results reveal a direct role for CBX4 in the DDR pathway. ..
- Chan G, Yen T. The mitotic checkpoint: a signaling pathway that allows a single unattached kinetochore to inhibit mitotic exit. Prog Cell Cycle Res. 2003;5:431-9 pubmed..A single unattached kinetochore is proposed to amplify the "wait anaphase" signal through a kinase cascade involving checkpoint kinases such as hBubR1, hBub1 and Mps1. ..
- Lines M, Kozlowski K, Kulak S, Allingham R, Heon E, Ritch R, et al. Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci. 2004;45:828-33 pubmed..Quantitative PCR is an efficient means of detecting causative PITX2 deletions in patients with AR and may increase the detection rate at this locus. ..
- Hawryluk Gara L, Shibuya E, Wozniak R. Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex. Mol Biol Cell. 2005;16:2382-94 pubmed..On basis of these data, we propose a model in which Nup53 is positioned near the pore membrane and the lamina where it anchors an NPC subcomplex containing Nup93, Nup155, and Nup205. ..
- Iouk T, Kerscher O, Scott R, Basrai M, Wozniak R. The yeast nuclear pore complex functionally interacts with components of the spindle assembly checkpoint. J Cell Biol. 2002;159:807-19 pubmed..Furthermore, we show that the association of Mad1p with the NPC is not passive and that it plays a role in nuclear transport. ..
- Takeuchi O, Sims T, Takei Y, Ramassar V, Famulski K, Halloran P. Differential usage of class II transactivator promoters PI and PIV during inflammation and injury in kidney. J Am Soc Nephrol. 2003;14:2823-32 pubmed
- Krishnaswamy S, Verma S, Rahman M, Kav N. Functional characterization of four APETALA2-family genes (RAP2.6, RAP2.6L, DREB19 and DREB26) in Arabidopsis. Plant Mol Biol. 2011;75:107-27 pubmed publisher..It is possible that the results from this study on these transcription factors, in particular RAP2.6L and DREB19, can be utilized in developing salt and drought tolerant plants in the future. ..
- Famulski J, Vos L, Sun X, Chan G. Stable hZW10 kinetochore residency, mediated by hZwint-1 interaction, is essential for the mitotic checkpoint. J Cell Biol. 2008;180:507-20 pubmed publisher..Moreover, we find that stable hZW10 kinetochore residency at prometaphase kinetochores is dependent on its interaction with hZwint-1, and is essential for mitotic checkpoint arrest. ..
- Ptak C, Anderson A, Scott R, Van de Vosse D, Rogers R, Sydorskyy Y, et al. A role for the karyopherin Kap123p in microtubule stability. Traffic. 2009;10:1619-34 pubmed publisher..We propose that Kap123p and Caj1p, a member of the Hsp40 family of proteins, together play an essential role in normal microtubule function. ..
- Bush J, Wevrick R. The Prader-Willi syndrome protein necdin interacts with the E1A-like inhibitor of differentiation EID-1 and promotes myoblast differentiation. Differentiation. 2008;76:994-1005 pubmed publisher..Collectively, these data are consistent with a model whereby necdin promotes myoblast differentiation at least in part by relieving the inhibitory effect of EID-1. ..
- Garg A, Srivastava A, Davis M, O Keefe S, Chow L, Bell J. Antagonizing scalloped with a novel vestigial construct reveals an important role for scalloped in Drosophila melanogaster leg, eye and optic lobe development. Genetics. 2007;175:659-69 pubmed..Furthermore, antagonizing SD in larval tissues results in cell death, indicating that SD may also have a role in cell survival. ..
- Bush J, Wevrick R. Loss of the Prader-Willi obesity syndrome protein necdin promotes adipogenesis. Gene. 2012;497:45-51 pubmed publisher..We now directly demonstrate a role for necdin in inhibiting adipogenesis using cells derived from necdin deficient mice. ..
- Hodgetts R, O Keefe S, Anderson K. An intact RNA interference pathway is required for expression of the mutant wing phenotype of vg(21-3), a P-element-induced allele of the vestigial gene in Drosophila. Genome. 2012;55:312-26 pubmed publisher..We speculate that the vg and P-initiated transcripts that arise at the vg locus in the vg(21-3) mutant trigger an RNA interference response that results in the mutual degradation of both transcripts. ..
- Wu F, Ye X, Wang P, Jung K, Wu C, Douglas D, et al. Sox2 suppresses the invasiveness of breast cancer cells via a mechanism that is dependent on Twist1 and the status of Sox2 transcription activity. BMC Cancer. 2013;13:317 pubmed publisher..Our results have further highlighted a new level of biological complexity and heterogeneity of BC cells that may carry significant clinical implications. ..
- Leung C, Gong Z, Chen J, Glover J. Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. J Biol Chem. 2011;286:4292-301 pubmed publisher..Together with systematic mutagenesis studies, we highlight the role of key contacts in governing the unique specificity of the TopBP1-BACH1 interaction. ..
- Zhang J, Wang P, Wu F, Li M, Sharon D, Ingham R, et al. Aberrant expression of the transcriptional factor Twist1 promotes invasiveness in ALK-positive anaplastic large cell lymphoma. Cell Signal. 2012;24:852-8 pubmed publisher..In conclusion, Twist1 expression, owing to the abnormal NPM-ALK/STAT3 signaling, contributes to its invasiveness and decreased sensitivity to PF-2341066 in ALK+ALCL. ..