Genetic variability of the activity of bidirectional promoters : a pilot study in bovine muscle

Cédric Meerssemann (1, 2) , Rabia Letaief (1) , Véronique Léjard (1) , Emmanuelle Rebours (1) , Gabriel Guillocheau (1) , Diane Esquerre (3) , Anis Djari (4) , Amanda Chamberlain (5, 6) , Christy Vander Jagt (5, 6) , Christophe C. Klopp (4) , Mekki Boussaha (1) , Gilles Renand (1) , Abderrahman Maftah (2) , Daniel Petit (2) , Dominique Rocha (1)

1 GABI - Génétique Animale et Biologie Intégrative
2 UMR GMA - Unité de Génétique Moléculaire Animale
3 GenPhySE - Génétique Physiologie et Systèmes d'Elevage
4 MIAT INRA - Unité de Mathématiques et Informatique Appliquées de Toulouse
5 Dairy Futures Cooperat Res, Ctr, Bundoora,
6 Dept Econ Dev Jobs Transport & Resources, Bundoora,

Bidirectional promoters are regulatory regions co-regulating the expression of two neighbouring genes organized in a head-to-head orientation. In recent years, these regulatory regions have been studied in many organisms; however, no investigation to date has been done to analyse the genetic variation of the activity of this type of promoter regions. In our study, we conducted an investigation to first identify bidirectional promoters sharing genes expressed in bovine Longissimus thoracis and then to find genetic variants affecting the activity of some of these bidirectional promoters. Combining bovine gene information and expression data obtained using RNA-Seq, we identified 120 putative bidirectional promoters active in bovine muscle. We experimentally validated in vitro 16 of these bidirectional promoters. Finally, using gene expression and whole-genome genotyping data, we explored the variability of the activity in muscle of the identified bidirectional promoters and discovered genetic variants affecting their activity. We found that the expression level of 77 genes is correlated with the activity of 12 bidirectional promoters. We also identified 57 single nucleotide polymorphisms associated with the activity of 5 bidirectional promoters. To our knowledge, our study is the first analysis in any species of the genetic variability of the activity of bidirectional promoters.

Mots clés: bidirectional promoter; cattle genome; genetic variability; muscle

Domaines: Sciences du Vivant [q-bio]

Cédric Meerssemann, Rabia Letaief, Véronique Léjard, Emmanuelle Rebours, Gabriel Guillocheau, et al.. Genetic variability of the activity of bidirectional promoters : a pilot study in bovine muscle. DNA Research, 2017, 24 (3), pp.221-233. ⟨10.1093/dnares/dsx004⟩. ⟨hal-01606875⟩