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Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome
Imprinted inactivation of the paternal X chromosome in marsupials is the primordial mechanism of dosage compensation for X-linked genes between females and males in Therians. In Eutherian mammals, X chromosome inactivation (XCI) evolved into a random process in cells from the embryo proper, where ei...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Public Library of Science
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881032/ https://www.ncbi.nlm.nih.gov/pubmed/20532033 http://dx.doi.org/10.1371/journal.pone.0010947 |
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author | Moreira de Mello, Joana Carvalho de Araújo, Érica Sara Souza Stabellini, Raquel Fraga, Ana Maria de Souza, Jorge Estefano Santana Sumita, Denilce R. Camargo, Anamaria A. Pereira, Lygia V. |
author_facet | Moreira de Mello, Joana Carvalho de Araújo, Érica Sara Souza Stabellini, Raquel Fraga, Ana Maria de Souza, Jorge Estefano Santana Sumita, Denilce R. Camargo, Anamaria A. Pereira, Lygia V. |
author_sort | Moreira de Mello, Joana Carvalho |
collection | PubMed |
description | Imprinted inactivation of the paternal X chromosome in marsupials is the primordial mechanism of dosage compensation for X-linked genes between females and males in Therians. In Eutherian mammals, X chromosome inactivation (XCI) evolved into a random process in cells from the embryo proper, where either the maternal or paternal X can be inactivated. However, species like mouse and bovine maintained imprinted XCI exclusively in extraembryonic tissues. The existence of imprinted XCI in humans remains controversial, with studies based on the analyses of only one or two X-linked genes in different extraembryonic tissues. Here we readdress this issue in human term placenta by performing a robust analysis of allele-specific expression of 22 X-linked genes, including XIST, using 27 SNPs in transcribed regions. We show that XCI is random in human placenta, and that this organ is arranged in relatively large patches of cells with either maternal or paternal inactive X. In addition, this analysis indicated heterogeneous maintenance of gene silencing along the inactive X, which combined with the extensive mosaicism found in placenta, can explain the lack of agreement among previous studies. Our results illustrate the differences of XCI mechanism between humans and mice, and highlight the importance of addressing the issue of imprinted XCI in other species in order to understand the evolution of dosage compensation in placental mammals. |
format | Text |
id | pubmed-2881032 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-28810322010-06-07 Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome Moreira de Mello, Joana Carvalho de Araújo, Érica Sara Souza Stabellini, Raquel Fraga, Ana Maria de Souza, Jorge Estefano Santana Sumita, Denilce R. Camargo, Anamaria A. Pereira, Lygia V. PLoS One Research Article Imprinted inactivation of the paternal X chromosome in marsupials is the primordial mechanism of dosage compensation for X-linked genes between females and males in Therians. In Eutherian mammals, X chromosome inactivation (XCI) evolved into a random process in cells from the embryo proper, where either the maternal or paternal X can be inactivated. However, species like mouse and bovine maintained imprinted XCI exclusively in extraembryonic tissues. The existence of imprinted XCI in humans remains controversial, with studies based on the analyses of only one or two X-linked genes in different extraembryonic tissues. Here we readdress this issue in human term placenta by performing a robust analysis of allele-specific expression of 22 X-linked genes, including XIST, using 27 SNPs in transcribed regions. We show that XCI is random in human placenta, and that this organ is arranged in relatively large patches of cells with either maternal or paternal inactive X. In addition, this analysis indicated heterogeneous maintenance of gene silencing along the inactive X, which combined with the extensive mosaicism found in placenta, can explain the lack of agreement among previous studies. Our results illustrate the differences of XCI mechanism between humans and mice, and highlight the importance of addressing the issue of imprinted XCI in other species in order to understand the evolution of dosage compensation in placental mammals. Public Library of Science 2010-06-04 /pmc/articles/PMC2881032/ /pubmed/20532033 http://dx.doi.org/10.1371/journal.pone.0010947 Text en Moreira de Mello et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Moreira de Mello, Joana Carvalho de Araújo, Érica Sara Souza Stabellini, Raquel Fraga, Ana Maria de Souza, Jorge Estefano Santana Sumita, Denilce R. Camargo, Anamaria A. Pereira, Lygia V. Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome |
title | Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome |
title_full | Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome |
title_fullStr | Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome |
title_full_unstemmed | Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome |
title_short | Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome |
title_sort | random x inactivation and extensive mosaicism in human placenta revealed by analysis of allele-specific gene expression along the x chromosome |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881032/ https://www.ncbi.nlm.nih.gov/pubmed/20532033 http://dx.doi.org/10.1371/journal.pone.0010947 |
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