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Expression of the Epigenetic factor BORIS (CTCFL) in the Human Genome

Rosalia de Necochea-Campion12, Anahit Ghochikyan3, Steven F Josephs24, Shelly Zacharias5, Erik Woods5, Feridoun Karimi-Busheri6, Doru T Alexandrescu7, Chien-Shing Chen1, Michael G Agadjanyan389 and Ewa Carrier2*

Author Affiliations

1 Division of Hematology and Oncology, School of Medicine, Loma Linda University, Loma Linda, CA 92354, USA

2 Department of Medicine, University of California, San Diego, CA 92093, USA

3 Department of Molecular Immunology, Institute for Molecular Medicine, Huntington Beach, CA 92647, USA

4 Therinject LLC, San Diego, CA 92121, USA

5 RenovoCyte LLC, Indianapolis, IN 46202, USA

6 NovaRX Corporation, Stem Cell Dept., San Diego, CA 92121, USA

7 Department of Dermatology, Georgetown Dermatology, Washington, DC 20017, USA

8 University of California, Irvine, Institute for Memory Impairments and Neurological Disorders, Irvine, CA 92697, USA

9 Mechnikov Research Institute of Vaccine and Sera, Russian Academy of Medical Sciences, Moscow, 105064, Russia

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Journal of Translational Medicine 2011, 9:213  doi:10.1186/1479-5876-9-213

Published: 14 December 2011


BORIS, or CTCFL, the so called Brother of the Regulator of Imprinted Sites because of the extensive homology in the central DNA binding region of the protein to the related regulator, CTCF, is expressed in early gametogenesis and in multiple cancers but not in differentiated somatic cells. Thus it is a member of the cancer testes antigen group (CTAs). Since BORIS and CTCF target common DNA binding sites, these proteins function on two levels, the first level is their regulation via the methylation context of the DNA target site and the second level is their distinct and different epigenetic associations due to differences in the non-homologous termini of the proteins. The regulation on both of these levels is extensive and complex and the sphere of influence of each of these proteins is associated with vastly different cellular signaling processes. On the level of gene expression, BORIS has three known promoters and multiple spliced mRNAs which adds another level of complexity to this intriguing regulator. BORIS expression is observed in the majority of cancer tissues and cell lines analyzed up to today. The expression profile and essential role of BORIS in cancer make this molecule very attractive target for cancer immunotherapy. This review summarizes what is known about BORIS regarding its expression, structure, and function and then presents some theoretical considerations with respect to its genome wide influence and its potential for use as a vaccine for cancer immunotherapy.

BORIS; CTCF; epigenetic regulation; protein partners; cancer immunotherapy