Genetic architecture of natural variation of cardiac performance: from flies to Humans

Date de l'évènement: 
Friday, 9 December, 2022

L. Perrin and C. Brun groups, together with A. Colas and K. Ocorr labs at Sanford Burnham (San Diego, USA) have recently published an article:

Genetic architecture of natural variation of cardiac performance: from flies to Humans

Comprehensive Genome Wide Associations Studies in flies identify new genes and pathways critical for heart development and function and display relevant overlap with human genetic risks related to cardiac performance.

Saha, S., Spinelli, L., Castro Mondragon, J.A., Kervadec, A., Lynott, M., Kremmer, L., Roder, L., Krifa, S., Torres, M., Brun, C., Vogler, G., Bodmer, R., Colas, A.R., Ocorr, K., Perrin, L.,

eLife 11, e82459. https://doi.org/10.7554/eLife.82459

 

The article describes:

  • Cardiac performance was assayed in 167 lines of inbred, wild-caught flies.

  • Fly GWAS and functional studies identified Activin and BMP pathways as synergistic regulators of heart function.

  • Most variants mapped to non-coding regions flanking transcription factor binding sites.

  • PAX9 and EGR2 were identified as novel genes with cardiac function, and validated in flies and human iPSC-cardiomyocytes.