X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies
With respect to studies of the genetic architecture of complex traits, our results suggest that a model of full dosage compensation, although not strictly correct for much of chromosome X, is more appropriate than a model of no dosage compensation. We conclude that uncertainty about the model of dosage compensation should not be an impediment to analysis of chromosome X in genetic epidemiology studies.
Authors
- Jie Zhou (ORCID: https://orcid.org/0000-0003-3389-7515)
- Mateus H. Gouveia (ORCID: https://orcid.org/0000-0001-6711-5265)
- Daniel Shriner (ORCID: https://orcid.org/0000-0003-1928-5520)
- Adebowale Adeyemo (ORCID: https://orcid.org/0000-0002-3105-3231)
- Charles N. Rotimi (ORCID: https://orcid.org/0000-0001-5759-053X)
- Elisabeth F. Heuston (ORCID: https://orcid.org/0000-0002-1603-4083)
- Karlijn Meeks (ORCID: https://orcid.org/0000-0003-3032-405X)
- Ayo P. Doumatey (ORCID: https://orcid.org/0000-0001-9494-7710)
- Lin Lei
Institutions
- University of Maryland, Baltimore (US)
- National Human Genome Research Institute (US)
- Morehouse School of Medicine (US)
Publication Details
- Journal
- BMC Genomics
- Published
- 2025-11-24
- DOI
- https://doi.org/10.1186/s12864-025-12352-9
- Primary Topic
- Genetic Associations and Epidemiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- U.S. Department of Health and Human Services
- National Institutes of Health
- National Heart, Lung, and Blood Institute
- National Institute of Mental Health
- National Institute on Drug Abuse
- National Human Genome Research Institute
- NIH Office of the Director
- National Cancer Institute
- National Institute of Neurological Disorders and Stroke
- Common Fund