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Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells

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dc.contributor.author El Maarri, Osman
dc.contributor.author Olek, Alexander
dc.contributor.author Balaban, Basak
dc.contributor.author Montag, Markus
dc.contributor.author Van der Ven, Hans
dc.contributor.author Urman, Bulent
dc.contributor.author Olek, Klaus
dc.contributor.author Caglayan, S.Hande
dc.contributor.author Walter, Jorn
dc.contributor.author Oldenburg, Johannes
dc.date.accessioned 2017-09-12T06:21:20Z
dc.date.available 2017-09-12T06:21:20Z
dc.date.copyright 1998 en_US
dc.identifier.issn 0002-9297 en_US
dc.identifier.uri http://hdl.handle.net/10725/6161
dc.description.abstract Transitional mutations at CpG dinucleotides account for approximately a third of all point mutations. These mutations probably arise through spontaneous deamination of 5-methylcytosine. Studies of CpG mutation rates in disease-linked genes, such as factor VIII and FGFR3, have indicated that they more frequently originate in male than in female germ cells. It has been speculated that these sex-biased mutation rates might be a consequence of sex-specific methylation differences between the female and the male germ lines. Using the bisulfite-based genomic-sequencing method, we investigated the methylation status of the human factor VIII and FGFR3 genes in mature male and female germ cells. With the exception of a single CpG, both genes were found to be equally and highly methylated in oocytes and spermatocytes. Whereas these observations strongly support the notion that DNA methylation is the major determining factor for recurrent CpG germ-line mutations in patients with hemophilia and achondroplasia, the higher mutation rate in the male germ line is apparently not a simple reflection of sex-specific methylation differences. en_US
dc.language.iso en en_US
dc.title Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells en_US
dc.type Article en_US
dc.description.version Published en_US
dc.title.subtitle implications for male-driven evolution en_US
dc.author.school SAS en_US
dc.author.idnumber 200508713 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal American Journal of Human Genetics en_US
dc.journal.volume 63 en_US
dc.journal.issue 4 en_US
dc.article.pages 1001-1008 en_US
dc.keywords Factor VIII en_US
dc.keywords FGFR3 gene en_US
dc.keywords CpG dinucleotides en_US
dc.keywords Mehtylation en_US
dc.keywords Germ cells en_US
dc.keywords Sex ratio en_US
dc.identifier.doi https://doi.org/10.1086/302065 en_US
dc.identifier.ctation El-Maarri, O., Olek, A., Balaban, B., Montag, M., van der Ven, H., Urman, B., ... & Oldenburg, J. (1998). Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution. The American Journal of Human Genetics, 63(4), 1001-1008. en_US
dc.author.email osman.elmaarri@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url http://www.sciencedirect.com/science/article/pii/S000292970761790X#! en_US
dc.author.affiliation Lebanese American University en_US


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