Genomes and Genes
Elena M Pugacheva
Affiliation: National Institutes of Health
- Cloning and characterization of zebrafish CTCF: Developmental expression patterns, regulation of the promoter region, and evolutionary aspects of gene organizationElena M Pugacheva
Molecular Pathology Section, Laboratory of Immunopathology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD 20852, USA
Gene 375:26-36. 2006..Transfection assays with luciferase reporter-constructs identified a core promoter region within 146 bp immediately upstream of the transcriptional start site of zebrafish CTCF that is located at a highly conserved YY1/Initiator element...
- The structural complexity of the human BORIS gene in gametogenesis and cancerElena M Pugacheva
Laboratory of Immunopathology, National Institute of Allergy and Infectious Disease, National Institutes of Health, Rockville, Maryland, United States of America
PLoS ONE 5:e13872. 2010..While recent studies demonstrated that BORIS is a transcriptional activator of testis-specific genes, little is generally known about its biological and molecular functions...
- Expression of the CTCF-paralogous cancer-testis gene, brother of the regulator of imprinted sites (BORIS), is regulated by three alternative promoters modulated by CpG methylation and by CTCF and p53 transcription factorsStéphanie Renaud
Section of Molecular Pathology, Laboratory of Immunopathology, NIAID, NIH, Rockville, MD 20815, USA
Nucleic Acids Res 35:7372-88. 2007..These results provide a mechanistic basis for understanding cancer-related associations between haploinsufficiency of CTCF and BORIS derepression, and between the lack of functional p53 and aberrant activation of BORIS...
- Transcription factor BORIS (Brother of the Regulator of Imprinted Sites) directly induces expression of a cancer-testis antigen, TSP50, through regulated binding of BORIS to the promoterNatsuki Kosaka-Suzuki
Laboratory of Immunopathology, NIAID, National Institutes of Health, Rockville, Maryland 20852, USA
J Biol Chem 286:27378-88. 2011..To our knowledge this is the first report of regulated expression of one CTA by another to be validated in a physiological context...
- Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivationElena M Pugacheva
Molecular Pathology Section, Laboratory of Immunopathology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 5640 Fishers Lane, Twinbrook I Rm 1417, Rockville, MD 20852, USA
Hum Mol Genet 14:953-65. 2005..These observations are in keeping with the possibility that the choice of X chromosome inactivation reflects stabilization of a higher order chromatin conformation impinging on the CTCF-XIST promoter complex...
- Tumor-associated zinc finger mutations in the CTCF transcription factor selectively alter tts DNA-binding specificityGalina N Filippova
Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
Cancer Res 62:48-52. 2002..These observations suggest that CTCF may represent a novel tumor suppressor gene that displays tumor-specific "change of function" rather than complete "loss of function."..
- Allele-specific binding of CTCF to the multipartite imprinting control region KvDMR1Galina V Fitzpatrick
Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
Mol Cell Biol 27:2636-47. 2007..These results suggest that the KvDMR1 ICR consists of multiple, independent cis-acting modules. Dissection of KvDMR1 into its functional components should help elucidate the mechanism of its function in vivo...