Abstract
Purpose of Review
Transposable elements are mobile genetic units within mammalian genomes that produce genomic structural variation in evolution, development, and disease. However, the role of transposable elements in developing congenital malformations is not commonly acknowledged.
Recent Findings
We reviewed 13 congenital malformations in which transposition has modified, deleted, or added new regulatory regions (genomic and epigenomic) in genetic regulatory networks. These include heart defects, ciliopathies, anomalies of kidney and urinary tract, and skeletal malformations such as polydactyly and craniosynostosis.
Summary
The mechanisms by which transposition causes congenital malformations are a window to understand how development is regulated and can lead to new insights on the evolution of morphological traits. Similar transposition events to those described for congenital malformations may trigger changes of development over time and impact the evolution of morphological traits, as suggested by recent advances in evolutionary developmental pathology.
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Acknowledgements
We thank Arcadi Navarro and one anonymous reviewer for their valuable comments.
Funding
This project is supported through the Postdoctoral Junior Leader Fellowship Programme from “la Caixa” Banking Foundation (LCF/BQ/LI18/11630002) to BE-A. We thank the Unidad de Excelencia María de Maeztu funded by the AEI (CEX2018-000792-M).
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Barteri, F., Esteve-Altava, B. The Role of Transposable Elements in Congenital Malformations with Notes on Their Potential Implications for Morphological Evolution in Mammals. Curr Mol Bio Rep 6, 71–78 (2020). https://doi.org/10.1007/s40610-020-00134-z
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DOI: https://doi.org/10.1007/s40610-020-00134-z