A whole-organism landscape of X-inactivation in humans
As females are mosaic for X-inactivation, direct determination of X-linked allelic expression in bulk tissues is typically unfeasible. Using females that are non-mosaic (completely skewed) for X-inactivation (nmXCI) has proven a powerful and natural genetic system for profiling X-inactivation in hum...
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| Language: | English |
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eLife Sciences Publications Ltd
2025-07-01
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| Series: | eLife |
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| Online Access: | https://elifesciences.org/articles/102701 |
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| author | Bjorn Gylemo Maike Bensberg Colm E Nestor |
| author_facet | Bjorn Gylemo Maike Bensberg Colm E Nestor |
| author_sort | Bjorn Gylemo |
| collection | DOAJ |
| description | As females are mosaic for X-inactivation, direct determination of X-linked allelic expression in bulk tissues is typically unfeasible. Using females that are non-mosaic (completely skewed) for X-inactivation (nmXCI) has proven a powerful and natural genetic system for profiling X-inactivation in humans. By combining allele-resolution data for one previously reported and two newly identified nmXCI females, we directly determined X-inactivation status of 380 X-linked genes across 30 normal tissues, including 198 genes for which XCI status is directly determined for the first time. Our findings represent a substantial advance in our understanding of human X-inactivation and will serve as a reference for dissecting the genetic origin of sex bias in human traits. In addition, our study reveals nmXCI as a common feature of the human female population, with profound consequences for the penetrance and expressivity of X-linked traits in humans. |
| format | Article |
| id | doaj-art-9d78a2a3f1854920904ec7f07def4077 |
| institution | Kabale University |
| issn | 2050-084X |
| language | English |
| publishDate | 2025-07-01 |
| publisher | eLife Sciences Publications Ltd |
| record_format | Article |
| series | eLife |
| spelling | doaj-art-9d78a2a3f1854920904ec7f07def40772025-08-20T03:30:37ZengeLife Sciences Publications LtdeLife2050-084X2025-07-011410.7554/eLife.102701A whole-organism landscape of X-inactivation in humansBjorn Gylemo0https://orcid.org/0000-0001-5253-6737Maike Bensberg1https://orcid.org/0000-0003-2395-6083Colm E Nestor2https://orcid.org/0000-0001-5853-1769Crown Princess Victoria Children´s Hospital, Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, SwedenCrown Princess Victoria Children´s Hospital, Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, SwedenCrown Princess Victoria Children´s Hospital, Department of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, SwedenAs females are mosaic for X-inactivation, direct determination of X-linked allelic expression in bulk tissues is typically unfeasible. Using females that are non-mosaic (completely skewed) for X-inactivation (nmXCI) has proven a powerful and natural genetic system for profiling X-inactivation in humans. By combining allele-resolution data for one previously reported and two newly identified nmXCI females, we directly determined X-inactivation status of 380 X-linked genes across 30 normal tissues, including 198 genes for which XCI status is directly determined for the first time. Our findings represent a substantial advance in our understanding of human X-inactivation and will serve as a reference for dissecting the genetic origin of sex bias in human traits. In addition, our study reveals nmXCI as a common feature of the human female population, with profound consequences for the penetrance and expressivity of X-linked traits in humans.https://elifesciences.org/articles/102701X-inactivationskewed X-inactivationescape from X-inactivation |
| spellingShingle | Bjorn Gylemo Maike Bensberg Colm E Nestor A whole-organism landscape of X-inactivation in humans eLife X-inactivation skewed X-inactivation escape from X-inactivation |
| title | A whole-organism landscape of X-inactivation in humans |
| title_full | A whole-organism landscape of X-inactivation in humans |
| title_fullStr | A whole-organism landscape of X-inactivation in humans |
| title_full_unstemmed | A whole-organism landscape of X-inactivation in humans |
| title_short | A whole-organism landscape of X-inactivation in humans |
| title_sort | whole organism landscape of x inactivation in humans |
| topic | X-inactivation skewed X-inactivation escape from X-inactivation |
| url | https://elifesciences.org/articles/102701 |
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