Metastable epialleles in mammals
Abstract
There are some mammalian alleles that display the unusual characteristic of variable expressivity in the absence of genetic heterogeneity. It has recently become evident that this is because the activity of these alleles is dependent on their epigenetic state. Interestingly, the epigenetic state is somewhat labile, resulting in phenotypic mosaicism between cells (variegation) and also between individuals (variable expressivity). The establishment of the epigenetic state occurs during early embryogenesis and is a probabilistic event that is influenced by whether the allele is carried on the paternal or maternal alleles. In addition, the epigenetic state determines whether these alleles are dominant. We propose that mammalian alleles with such characteristics should be termed metastable epialleles to distinguish them from traditional alleles. At this stage, it is unclear how common these alleles are, but an appreciation of their existence will aid in their identification.
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The best characterized example of variegation in mammals is the coat color of mice carrying the Avy allele.
“The best characterized example of variegation in mammals is the coat color of mice carrying the Avy allele [3,4].”
From A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development (2008) · cites this paper as [4]
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- Authors
- Rakyan, V. K., Blewitt, M. E., Druker, R., Preis, J. I., & Whitelaw, E.
- Affiliations
- The University of Sydney (AU)
- Corresponding author
- Whitelaw, Emma
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2002-07
- Volume
- 18
- Issue
- 7
- Pages
- 348-351
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2074452993
- Cited by
- 499
- References
- 35
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 12 · 2023: 14 · 2022: 15 · 2021: 32 · 2020: 14 · 2019: 27 · 2018: 18 · 2017: 20 · 2016: 20 · 2015: 24 · 2014: 27 · 2013: 31 · 2012: 27
- FWCI
- 1.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- metastable epialleles, epigenetic inheritance, variable expressivity, variegation
- MeSH terms
- Alleles, Animals, Genes, Dominant, Mammals, Genomic Imprinting, Retroelements, Transgenes, Mice
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