Molecules and Cells

Korean Society for Molecular and Cellular Biology (한국분자세포생물학회)
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Unraveling the mystery of oligogenic inheritance under way?

  • Yerim Lee (Department of Life Science, Ewha Womans University) ;
  • Jaesang Kim (Department of Life Science, Ewha Womans University)
  • Published : 2024.01.31
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Abstract

Keywords

Acknowledgement

Y.L. and J.K. were supported by Samsung Science and Technology Foundation under Project Number SSTF-BA2002-11.

References

  1. Boyle, E.A., Li, Y.I., and Pritchard, J.K. (2017). An expanded view of complex traits: From polygenic to omnigenic. Cell, 169, 1177-1186. https://doi.org/10.1016/j.cell.2017.05.038
  2. Chung, I.M., and Rajakumar, G. (2016). Genetics of congenital heart defects: The NKX2-5 gene, a key player. Genes, 7, 1-12. https://doi.org/10.3390/genes7020006
  3. Dentice, M., Cordeddu, V., Rosica, A., Ferrara, A.M., Santarpia, L., Salvatore, D., Chiovato, L., Perri, A., Moschini, L., Fazzini, C., et al. (2006). Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J. Clin. Endocrinol. Metab. 91, 1428-1433. https://doi.org/10.1210/jc.2005-1350
  4. Gifford, C.A., Ranade, S.S., Samarakoon, R., Salunga, H.T., de Soysa, T.Y., Huang, Y., Zhou, P., Elfenbein, A., Wyman, S.K., Bui, Y.K., et al. (2019). Oligogenic inheritance of a human heart disease involving a genetic modifier. Science, 364, 865-870. https://doi.org/10.1126/science.aat5056
  5. Hall, B., Cho, A., Limaye, A., Cho, K., Khillan, J., and Kulkarni, A.B. (2018). Genome editing in mice using CRISPR/Cas9 technology. Curr. Protoc. Cell Biol. 81, Article e57.
  6. Khera, A.V., Chaffin, M., Aragam, K.G., Haas, M.E., Roselli, C., Choi, S.H., Natarajan, P., Lander, E.S., Lubitz, S.A., Ellinor, P.T., et al. (2018). Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat. Genet. 50, 1219-1224. https://doi.org/10.1038/s41588-018-0183-z
  7. McNally, E.M., Barefield, D.Y., and Puckelwartz, M.J. (2015). The genetic landscape of cardiomyopathy and its role in heart failure. Cell Metab. 21, 174-182. https://doi.org/10.1016/j.cmet.2015.01.013
  8. Salk, J.J., Schmitt, M.W., and Loeb, L.A. (2018). Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations. Nat. Rev. Genet. 19, 269-285. https://doi.org/10.1038/nrg.2017.117
  9. Sharma, A., Sances, S., Workman, M.J., and Svendsen, C.N. (2020). Multi-lineage human iPSC-derived platforms for disease modeling and drug discovery. Cell Stem Cell, 26, 309-329. https://doi.org/10.1016/j.stem.2020.02.011
  10. Trembley, M.A., Velasquez, L.S., de Mesy Bentley, K.L., and Small, E.M. (2015). Myocardin-related transcription factors control the motility of epicardium-derived cells and the maturation of coronary vessels. Development, 142, 21-30. https://doi.org/10.1242/dev.116418
  11. Yazar, M., and Ozbek, P. (2021). In silico tools and approaches for the prediction of functional and structural effects of single-nucleotide polymorphisms on proteins: An expert review. OMICS, 25, 23-37. https://doi.org/10.1089/omi.2020.0141