X-inactivation profile reveals extensive variability in X-linked gene expression in females
Abstract
In female mammals, most genes on one X chromosome are silenced as a result of X-chromosome inactivation. However, some genes escape X-inactivation and are expressed from both the active and inactive X chromosome. Such genes are potential contributors to sexually dimorphic traits, to phenotypic variability among females heterozygous for X-linked conditions, and to clinical abnormalities in patients with abnormal X chromosomes. Here, we present a comprehensive X-inactivation profile of the human X chromosome, representing an estimated 95% of assayable genes in fibroblast-based test systems. In total, about 15% of X-linked genes escape inactivation to some degree, and the proportion of genes escaping inactivation differs dramatically between different regions of the X chromosome, reflecting the evolutionary history of the sex chromosomes. An additional 10% of X-linked genes show variable patterns of inactivation and are expressed to different extents from some inactive X chromosomes. This suggests a remarkable and previously unsuspected degree of expression heterogeneity among females.
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Because fewer genes escape inactivation in mice (3%) compared with humans (15%), the chromosomal basis of sex differences may be understated in rodent studies compared with humans.
“However, because fewer genes escape inactivation in mice (3%) compared with humans (15%), 94,95 the chromosomal basis of sex differences may be understated in rodent studies compared with humans.”
From Sex Differences in Traumatic Brain Injury: What We Know and What We Should Know (2019) · cites this paper as [94]
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- Authors
- Carrel, L., & Willard, H. F.
- Affiliations
- Pennsylvania State University (US)
- Duke University (US)
- Corresponding author
- Carrel, Laura
- Venue
- Nature
- Published
- 2005-03
- Volume
- 434
- Issue
- 7031
- Pages
- 400-404
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2020958409
- Cited by
- 2,097
- References
- 33
- Citations by year
- 2026: 56 · 2025: 89 · 2024: 84 · 2023: 107 · 2022: 111 · 2021: 136 · 2020: 101 · 2019: 96 · 2018: 100 · 2017: 99 · 2016: 94 · 2015: 117 · 2014: 113 · 2013: 99 · 2012: 96
- FWCI
- 53.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Institute for Health and Care Research
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- X chromosome inactivation, X-linked gene expression, X-inactivation escape, human X chromosome, sex chromosome evolution
- MeSH terms
- Alleles, Dosage Compensation, Genetic, Female, Fibroblasts, Gene Expression Regulation, Heterozygote, Humans, Male, Phenotype, RNA, Messenger, Sex Characteristics, Transcription, Genetic, CpG Islands, Gene Expression Profiling, RNA, Untranslated, Chromosomes, Human, X, Chromosomes, Human, Y, RNA, Long Noncoding
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