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PMID: 12011441 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma.

Loukinov DI, Pugacheva E, Vatolin S, Pack SD, Moon H, Chernukhin I, Mannan P, Larsson E, Kanduri C, Vostrov AA, Cui H, Niemitz EL, Rasko JE, Docquier FM, Kistler M, Breen JJ, Zhuang Z, Quitschke WW, Renkawitz R, Klenova EM, Feinberg AP, Ohlsson R, Morse HC, Lobanenkov VV

Abstract

CTCF, a conserved, ubiquitous, and highly versatile 11-zinc-finger factor involved in various aspects of gene regulation, forms methylation-sensitive insulators that regulate X chromosome inactivation and expression of imprinted genes. We document here the existence of a paralogous gene with the same exons encoding the 11-zinc-finger domain as mammalian CTCF genes and thus the same DNA-binding potential, but with distinct amino and carboxy termini. We named this gene BORIS for Brother of the Regulator of Imprinted Sites. BORIS is present only in the testis, and expressed in a mutually exclusive manner with CTCF during male germ cell development. We show here that erasure of methylation marks during male germ-line development is associated with dramatic up-regulation of BORIS and down-regulation of CTCF expression. Because BORIS bears the same DNA-binding domain that CTCF employs for recognition of methylation marks in soma, BORIS is a candidate protein for the elusive epigenetic reprogramming factor acting in the male germ line.

MeSH Terms
Amino Acid Sequence Animals CCCTC-Binding Factor Cloning, Molecular DNA Methylation DNA-Binding Proteins/genetics Gene Expression Genetic Markers Genomic Imprinting Humans Male Mice Molecular Sequence Data Protein Structure, Tertiary Repressor Proteins Sequence Homology, Amino Acid Testis/metabolism Transcription Factors/genetics Zinc Fingers
Chemicals
CCCTC-Binding Factor CTCF protein, human CTCFL protein, human Ctcf protein, mouse Ctcfl protein, mouse DNA-Binding Proteins Genetic Markers Repressor Proteins Transcription Factors
Authors & Affiliations
24 authors, click to expand affiliations / ORCID
Loukinov Dmitri I
Laboratory of Immunopathology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-0760, USA.
Pugacheva Elena
Vatolin Sergei
Pack Svetlana D
Moon Hanlim
Chernukhin Igor
Mannan Poonam
Larsson Erik
Kanduri Chandrasekhar
Vostrov Alexander A
Cui Hengmi
Niemitz Emily L
Rasko John E J
Docquier France M
Kistler Malathi
Breen Joseph J
Zhuang Zhengping
Quitschke Wolfgang W
Renkawitz Rainer
Klenova Elena M
Feinberg Andrew P
Ohlsson Rolf
Morse Herbert C
Lobanenkov Victor V
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
Published
2002-05-14
Pages
6806-11
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC124484
Subset
IM
Grants
NINDS NIH HHS · NS30994 · United States
NCI NIH HHS · R37 CA054358-12 · United States
NCI NIH HHS · R37 CA054358 · United States
NINDS NIH HHS · R01 NS030994 · United States
Breast Cancer Now · 2000:137 · United Kingdom
NICHD NIH HHS · HD-10793 · United States
NICHD NIH HHS · R01 HD010793 · United States
Worldwide Cancer Research · 99-0514 · United Kingdom
NCI NIH HHS · R01 CA054358 · United States
NCI NIH HHS · R01 CA65145 · United States
NCI NIH HHS · R37 CA54358 · United States
NCI NIH HHS · R01 CA065145 · United States
Databases
GENBANK
AF336042
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