De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism
The intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by intrachromosomal recombination betwee...
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| مؤلفون آخرون: | , , , , , |
| التنسيق: | article |
| منشور في: |
2000
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/6163 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.bloodjournal.org/content/96/8/2905.short?sso-checked=true |
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| _version_ | 1864513478616678400 |
|---|---|
| author | El Maarri, Osman |
| author2 | Oldenburg, Johannes Rost, Simone Leuer, Marco Olek, Klaus Muller, Clemen R. Schwaab, Rainer |
| author2_role | author author author author author author |
| author_facet | El Maarri, Osman Oldenburg, Johannes Rost, Simone Leuer, Marco Olek, Klaus Muller, Clemen R. Schwaab, Rainer |
| author_role | author |
| dc.creator.none.fl_str_mv | El Maarri, Osman Oldenburg, Johannes Rost, Simone Leuer, Marco Olek, Klaus Muller, Clemen R. Schwaab, Rainer |
| dc.date.none.fl_str_mv | 2000 2017-09-12T10:02:53Z 2017-09-12T10:02:53Z 2017-09-12 |
| dc.identifier.none.fl_str_mv | 1528-0020 http://hdl.handle.net/10725/6163 Oldenburg, J., Rost, S., El-Maarri, O., Leuer, M., Olek, K., Müller, C. R., & Schwaab, R. (2000). De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood, 96(8), 2905-2906. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.bloodjournal.org/content/96/8/2905.short?sso-checked=true |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | Blood |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | The intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by intrachromosomal recombination between 1 of 2 telomeric copies of the Int22h region and its intragenic homologue. The majority of inversion mutations originate in male germ cells, where the lack of bivalent formation may facilitate flipping of the telomeric end of the single X chromosome. This is the first intron 22 inversion that presents as a somatic mosaicism in a female, affecting only about 50% of lymphocyte and fibroblast cells of the proposita. Supposing a post-zygotic de novo mutation as the usual cause of somatic mosaicism, the finding would imply that the intron 22 inversion mutation is not restricted to meiotic cell divisions but can also occur during mitotic cell divisions, either in germ cell precursors or in somatic cells. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_4e3e47399577d32d51a58f070c61a022 |
| identifier_str_mv | 1528-0020 Oldenburg, J., Rost, S., El-Maarri, O., Leuer, M., Olek, K., Müller, C. R., & Schwaab, R. (2000). De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood, 96(8), 2905-2906. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/6163 |
| publishDate | 2000 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicismEl Maarri, OsmanOldenburg, JohannesRost, SimoneLeuer, MarcoOlek, KlausMuller, Clemen R.Schwaab, RainerThe intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by intrachromosomal recombination between 1 of 2 telomeric copies of the Int22h region and its intragenic homologue. The majority of inversion mutations originate in male germ cells, where the lack of bivalent formation may facilitate flipping of the telomeric end of the single X chromosome. This is the first intron 22 inversion that presents as a somatic mosaicism in a female, affecting only about 50% of lymphocyte and fibroblast cells of the proposita. Supposing a post-zygotic de novo mutation as the usual cause of somatic mosaicism, the finding would imply that the intron 22 inversion mutation is not restricted to meiotic cell divisions but can also occur during mitotic cell divisions, either in germ cell precursors or in somatic cells.PublishedN/A2017-09-12T10:02:53Z2017-09-12T10:02:53Z20002017-09-12Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1528-0020http://hdl.handle.net/10725/6163Oldenburg, J., Rost, S., El-Maarri, O., Leuer, M., Olek, K., Müller, C. R., & Schwaab, R. (2000). De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood, 96(8), 2905-2906.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://www.bloodjournal.org/content/96/8/2905.short?sso-checked=trueenBloodinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/61632021-03-19T10:00:49Z |
| spellingShingle | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism El Maarri, Osman |
| status_str | publishedVersion |
| title | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism |
| title_full | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism |
| title_fullStr | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism |
| title_full_unstemmed | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism |
| title_short | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism |
| title_sort | De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism |
| url | http://hdl.handle.net/10725/6163 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.bloodjournal.org/content/96/8/2905.short?sso-checked=true |