dc.creator | Martinez, R. | es |
dc.creator | Bonilla Henao, Victoria | es |
dc.creator | Ramos, I. | es |
dc.creator | Sobrino, Francisco | es |
dc.creator | Lucas, Miguel | es |
dc.creator | Pintado Sanjuán, Elizabeth | es |
dc.date.accessioned | 2017-06-09T10:59:26Z | |
dc.date.available | 2017-06-09T10:59:26Z | |
dc.date.issued | 2008-12-01 | |
dc.identifier.citation | Martinez, R., Bonilla Henao, V., Ramos, I., Sobrino, F., Lucas, M. y Pintado Sanjuán, E. (2008). May anomalous X chromosome methylation be responsible for the spontaneous abortion of a male foetus?. Journal of Genetics, 87 (3), 261-264. | |
dc.identifier.issn | 00221333 | es |
dc.identifier.uri | http://hdl.handle.net/11441/61190 | |
dc.description.abstract | Pregnancy loss is an important reproductive problem which appears to be highly associated with genetic factors. A spontaneous abortion occurred before prenatal diagnosis could be performed, in a woman who carried a fragile X full mutation. DNA extracted from formalin-fixed para ffin-embedded chorionic villi preparations indicated that it was a male embryo with an apparently methylated X chromosome. The previous analysis of the family showed that her daughter, who
also carried a full mutation, exhibited an extremely skewed X inactivation of the normal allele (100%) and a severe fragile X phenotype. Thus, we speculate that the aberrant pattern of X chromosome methylation in this family may provoke the spontaneous miscarriage of this pregnancy that could be explained by at least partial inactivation of the unique X chromosome in a male foetus. Spontaneous abortion occurs quite frequently in humans, and recurrent pregnancy loss is a significant problem in women’s health (Christiansen 2006). Many cases of spontaneous abortion defy diagnosis and genetic factors have been proposed as a major contribution (Lanasa and Hogge 2000; Sierra and Stephenson 2006). The X chromosome inactiva
tion (XCI) is the process in which one of the two X chromosomes present in each cell of female mammals is inactivated during early embryogenesis, to achieve dosage compensation with males (Avner and Heard 2001; Heard 2004). Initial steps of XCI involve a ‘counting process’, which senses the X chromosome/autosome ratio that restricts XCI to female embryos and, thereafter, the choice of which chromosome is inactivated (Morey et al . 2004).Skewed XCI leads to an expression of X-linked recessive disorders in females (Plenge et al. 2002; Mart´ınez et al.
2005; Renault et al. 2007). Another form of X-inactivation called meiotic sex chromosome inactivation (MSCI), takes place in males, during spermatogenesis and is a manifestation of the general meiotic-silencing mechanism (Turner 2007). In this study, we report the spontaneous abortion of a male foetus with an apparently methylated X chromosome, and propose that anomalous inactivation of its uniqueX chromosome could explain nonviability of the embryo and pregnancy loss. Therefore, we strongly suggest, as a follow up, that the methylation status of the X chromosome be tested in early spontaneous abortion of males in the absence of any other known genetic or nongenetic cause. | es |
dc.format | application/pdf | es |
dc.language.iso | eng | es |
dc.publisher | Indian Academy of Sciences | es |
dc.relation.ispartof | Journal of Genetics, 87 (3), 261-264. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Human genetics | es |
dc.subject | X-inactivation | es |
dc.subject | Epigenetics | es |
dc.subject | PGK locus methylation | es |
dc.title | May anomalous X chromosome methylation be responsible for the spontaneous abortion of a male foetus? | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Bioquímica Médica y Biología Molecular e Inmunología | es |
idus.format.extent | 4 | es |
dc.journaltitle | Journal of Genetics | es |
dc.publication.volumen | 87 | es |
dc.publication.issue | 3 | es |
dc.publication.initialPage | 261 | es |
dc.publication.endPage | 264 | es |