Article
A new mechanism for a familiar mutation - bovine DGAT1 K232A modulates gene expression through multi-junction exon splice enhancement.
BMC genomics - 26 Aug 2020
Fink Tania, Lopdell Thomas J, Tiplady Kathryn, Handley Renee, Johnson Thomas J J, Spelman Richard J, Davis Stephen R, Snell Russell G, Littlejohn Mathew D
Abstract excerpt
BACKGROUND: The DGAT1 gene encodes an enzyme responsible for catalysing the terminal reaction in mammary triglyceride synthesis, and underpins a well-known pleiotropic quantitative trait locus (QTL) with a large influence on milk composition phenotypes. Since first described over 15 years ago, a protein-coding variant K232A has been assumed as the causative variant underlying these effects, following in-vitro...
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