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  Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci

Singer, H., Walier, M., Nusgen, N., Meesters, C., Schreiner, F., Woelfle, J., et al. (2012). Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci. Human Molecular Genetics, 21(1), 219-35. doi:10.1093/hmg/ddr456.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC86-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC87-F
Genre: Journal Article

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© 2012 Oxford University Press
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 Creators:
Singer, H., Author
Walier, M., Author
Nusgen, N., Author
Meesters, C., Author
Schreiner, F., Author
Woelfle, J., Author
Fimmers, R., Author
Wienker, T.1, 2, Author              
Kalscheuer, V. M.3, Author              
Becker, T., Author
Schwaab, R., Author
Oldenburg, J., Author
El-Maarri, O., Author
Affiliations:
1Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479643              
2Institute of Medical Biometry, Informatics and Epidemiology (IMBIE) University of Bonn, Bonn, Germany, ou_persistent22              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479642              

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Free keywords: Adult Chromosomes, Human, X/*genetics DNA Methylation Female *Genome Size Humans Klinefelter Syndrome/*genetics *Long Interspersed Nucleotide Elements Male *Mutagenesis, Insertional *Promoter Regions, Genetic Turner Syndrome/*genetics *X Chromosome Inactivation Young Adult
 Abstract: LINE-1 repeats account for ~17% of the human genome. Little is known about their individual methylation patterns, because their repetitive, almost identical sequences make them difficult to be individually targeted. Here, we used bisulfite conversion to study methylation at individual LINE-1 repeats. The loci studied included 39 X-linked loci and 5 autosomal loci. On the X chromosome in women, we found statistically significant less methylation at almost all L1Hs compared with men. Methylation at L1P and L1M did not correlate with the inactivation status of the host DNA, while the majority of L1Hs that were possible to be studied lie in inactivated regions. To investigate whether the male-female differences at L1Hs on the X are linked to the inactivation process itself rather than to a mere influence of gender, we analyzed six of the L1Hs loci on the X chromosome in Turners and Klinefelters which have female and male phenotype, respectively, but with reversed number of X chromosomes. We could confirm that all samples with two X chromosomes are hypomethylated at the L1Hs loci. Therefore, the inactive X is hypomethylated at L1Hs; the latter could play an exclusive role in the X chromosome inactivation process. At autosomal L1Hs, methylation levels showed a correlation tendency between methylation level and genome size, with higher methylation observed at most loci in individuals with one X chromosome and the lowest in XXY individuals. In summary, loci-specific LINE-1 methylation levels show considerable plasticity and depend on genomic position and constitution.

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Language(s): eng - English
 Dates: 2012-01-01
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1093/hmg/ddr456
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Title: Human Molecular Genetics
Source Genre: Journal
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Publ. Info: Oxford, England : IRL Press
Pages: - Volume / Issue: 21 (1) Sequence Number: - Start / End Page: 219 - 35 Identifier: ISSN: 0964-6906
CoNE: /journals/resource/954925581153