Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells
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 mor...
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1998
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| Online Access: | http://hdl.handle.net/10725/6161 https://doi.org/10.1086/302065 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.sciencedirect.com/science/article/pii/S000292970761790X#! |
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| _version_ | 1864513478613532672 |
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| author | El Maarri, Osman |
| author2 | Olek, Alexander Balaban, Basak Montag, Markus Van der Ven, Hans Urman, Bulent Olek, Klaus Caglayan, S.Hande Walter, Jorn Oldenburg, Johannes |
| author2_role | author author author author author author author author author |
| author_facet | El Maarri, Osman Olek, Alexander Balaban, Basak Montag, Markus Van der Ven, Hans Urman, Bulent Olek, Klaus Caglayan, S.Hande Walter, Jorn Oldenburg, Johannes |
| author_role | author |
| dc.creator.none.fl_str_mv | El Maarri, Osman Olek, Alexander Balaban, Basak Montag, Markus Van der Ven, Hans Urman, Bulent Olek, Klaus Caglayan, S.Hande Walter, Jorn Oldenburg, Johannes |
| dc.date.none.fl_str_mv | 1998 2017-09-12T06:21:20Z 2017-09-12T06:21:20Z 2017-09-12 |
| dc.identifier.none.fl_str_mv | 0002-9297 http://hdl.handle.net/10725/6161 https://doi.org/10.1086/302065 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. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.sciencedirect.com/science/article/pii/S000292970761790X#! |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | American Journal of Human Genetics |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | 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 |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_ce65d5c348775ef8973fdff921ea8473 |
| identifier_str_mv | 0002-9297 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. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/6161 |
| publishDate | 1998 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cellsimplications for male-driven evolutionEl Maarri, OsmanOlek, AlexanderBalaban, BasakMontag, MarkusVan der Ven, HansUrman, BulentOlek, KlausCaglayan, S.HandeWalter, JornOldenburg, JohannesTransitional 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.PublishedN/A2017-09-12T06:21:20Z2017-09-12T06:21:20Z19982017-09-12Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article0002-9297http://hdl.handle.net/10725/6161https://doi.org/10.1086/302065El-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.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://www.sciencedirect.com/science/article/pii/S000292970761790X#!enAmerican Journal of Human Geneticsinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/61612021-03-19T10:00:49Z |
| spellingShingle | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells El Maarri, Osman |
| status_str | publishedVersion |
| title | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells |
| title_full | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells |
| title_fullStr | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells |
| title_full_unstemmed | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells |
| title_short | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells |
| title_sort | Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells |
| url | http://hdl.handle.net/10725/6161 https://doi.org/10.1086/302065 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.sciencedirect.com/science/article/pii/S000292970761790X#! |