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  Methylation of Endogenous Human Retroelements in Health and Disease

Schulz, W. A., Steinhoff, C., & Florl, A. R. (2006). Methylation of Endogenous Human Retroelements in Health and Disease. In Current Topics in Microbiology and Immunology (pp. 211-250). Berlin/Heidelberg: Springer.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-83B1-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-83B2-3
Genre: Book Chapter

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 Creators:
Schulz, W. A., Author
Steinhoff, Christine1, Author              
Florl, A. R., Author
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433547              

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 Abstract: Retroelements constitute approximately 45% of the human genome. Long interspersed nuclear element (LINE) autonomous retrotransposons are predominantly represented by LINE-1, nonautonomous small interspersed nuclear elements (SINEs) are primarily represented by ALUs, and LTR retrotransposons by several families of human endogenous retroviruses (HERVs). The vast majority of LINE and HERV elements are densely methylated in normal somatic cells and contained in inactive chromatin. Methylation and chromatin structure together ensure a stable equilibrium between retroelements and their host. Hypomethylation and expression in developing germ cells opens a “window of opportunity” for retrotransposition and recombination that contribute to human evolution, but also inherited disease. In somatic cells, the presence of retroelements may be exploited to organize the genome into active and inactive regions, to separate domains and functional regions within one chromatin domain, to suppress transcriptional noise, and to regulate transcript stability. Retroelements, particularly ALUs, may also fulfill physiological roles during responses to stress and infections. Reactivation and hypomethylation of LINEs and HERVs may be important in the pathophysiology of cancer and various autoimmune diseases, contributing to chromosomal instability and chronically aberrant immune responses. The emerging insights into the pathophysiological importance of endogenous retroelements accentuate the gaps in our knowledge of how these elements are controlled in normal developing and mature cells.

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Language(s): eng - English
 Dates: 2006-09-02
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 311429
DOI: 10.1007/3-540-31181-5_11
 Degree: -

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Title: Current Topics in Microbiology and Immunology
Source Genre: Book
 Creator(s):
Dörfler, Walter, Author
Affiliations:
-
Publ. Info: Berlin/Heidelberg : Springer
Pages: - Volume / Issue: - Sequence Number: - Start / End Page: 211 - 250 Identifier: -

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Title: Current Topics in Microbiology and Immunology
Source Genre: Series
 Creator(s):
Doerfler, Walter, Editor
Böhm, Petra, Editor
Affiliations:
-
Publ. Info: -
Pages: - Volume / Issue: 310 Sequence Number: - Start / End Page: - Identifier: ISSN: 0070-217X