Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders? Article Swipe
Baoheng Gui
,
Jesse Slone
,
Taosheng Huang
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.3389/fgene.2017.00191
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.3389/fgene.2017.00191
Several factors have been proposed as contributors to interfamilial and intrafamilial phenotypic variability in autosomal dominant disorders, including allelic variation, modifier genes, environmental factors and complex genetic and environmental interactions. However, regardless of the similarity of genetic background and environmental factors, asymmetric limb or trunk anomalies in a single individual and variable manifestation between monozygotic twins have been observed, indicating other mechanisms possibly involved in expressivity of autosomal dominant diseases. One such example is Holt-Oram syndrome (HOS), which is characterized by congenital cardiac defects and forelimb anomalies, mainly attributed to mutations in the TBX5 gene. We hypothesize that monoallelic expression of the TBX5 gene occurs during embryo development, and, in the context of a mutation, random monoallelic expression (RME) can create discrepant functions in a proportion of cells and thus contribute to variable phenotypes. A hybrid mouse model was used to investigate the occurrence of RME with the Tbx5 gene, and single-cell reverse transcription PCR and restriction digestion were performed for limb bud cells from developing embryos (E11.5) of the hybrid mice. RME of Tbx5 was observed in approximately two-thirds of limb bud cells. These results indicate that RME of the Tbx5 gene occurs frequently during embryo development, resulting in a mosaic expression signature (monoallelic, biallelic, or null) that may provide a potential explanation for the widespread phenotypic variability in HOS. This model will further provide novel insights into the variability of autosomal dominant traits and a better understanding of the complex expressivity of disease conditions.
Related Topics
Concepts
Biology
Phenotype
Genetics
Gene
Allele
Genomic imprinting
Imprinting (psychology)
Context (archaeology)
Gene expression
DNA methylation
Paleontology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fgene.2017.00191
- https://www.frontiersin.org/articles/10.3389/fgene.2017.00191/pdf
- OA Status
- gold
- Cited By
- 20
- References
- 70
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2769007025
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2769007025Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fgene.2017.00191Digital Object Identifier
- Title
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Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?Work title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2017Year of publication
- Publication date
-
2017-11-28Full publication date if available
- Authors
-
Baoheng Gui, Jesse Slone, Taosheng HuangList of authors in order
- Landing page
-
https://doi.org/10.3389/fgene.2017.00191Publisher landing page
- PDF URL
-
https://www.frontiersin.org/articles/10.3389/fgene.2017.00191/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.frontiersin.org/articles/10.3389/fgene.2017.00191/pdfDirect OA link when available
- Concepts
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Biology, Phenotype, Genetics, Gene, Allele, Genomic imprinting, Imprinting (psychology), Context (archaeology), Gene expression, DNA methylation, PaleontologyTop concepts (fields/topics) attached by OpenAlex
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20Total citation count in OpenAlex
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2024: 5, 2023: 6, 2022: 3, 2021: 2, 2020: 1Per-year citation counts (last 5 years)
- References (count)
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70Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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