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As such, it has been extensively studied in cattle, not least because of the consequences that mutations in this gene can have on milk quality. Two genetic variants reducing DGAT1 function have so far been identified in this species. The first of these, p.K232A, is relatively common. It alters the function of the enzyme encoded by DGAT1, and also has a potential effect on gene splicing. The second variant, p.M435L, is rare and causes a splicing defect in exon 16, resulting in the formation of a truncated, non-functional protein.

Although both variants have been shown in vivo to be associated with an effect on splicing, neither has been analyzed using a so-called "Full-Length Gene Assay" (FLGA). This assay, which currently represents the most powerful tool for splicing variant analysis, enables genetic variants to be analyzed independently of other variants potentially present in linkage disequilibrium with them, and in the context of the complete sequence of the gene under study.

In a study published in Scientific Reports, scientists from the UMR Génétique Animale et Biologie Intégrative - GABI (INRAE/AgroParisTech/UPSaclay, Jouy-en-Josas) developed a FLGA to analyze the effect of the p.K232A and p.M435L variants on DGAT1 splicing. This test confirmed the effect of p.M435L on splicing, but invalidated the hypothesis that the p.K232A variant could also alter DGAT1 splicing on its own, beyond its effect on protein function.

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• Arnaud Boulling