ArticleBMC genomics2020
A new mechanism for a familiar mutation - bovine DGAT1 K232A modulates gene expression through multi-junction exon splice enhancement.
Article in BMC genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Article
- Article
- An integrative approach to prioritize candidate causal genes for complex traits in cattle.PLoS genetics · 2025Article
- Functional impact of splicing variants in the elaboration of complex traits in cattle.Nature communications · 2025Article
- Comparison of genomic prediction accuracies in dairy cattle lactation traits using five classes of functional variants versus generic SNP.Genetics, selection, evolution : GSE · 2025Article
- Autophagy Gene BECN1 Intronic Variant rs9890617 Predisposes Individuals to Hepatitis B Virus Infection.Biochemical genetics · 2024Article
- Identification and characterization of whole blood gene expression and splicing quantitative trait loci during early to mid-lactation of dairy cattle.BMC genomics · 2024Article
- A comprehensive analysis of the effects ofArchives animal breeding · 2024Article
- An organism-wide ATAC-seq peak catalog for the bovine and its use to identify regulatory variants.Genome research · 2023Article
- Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay.Scientific reports · 2023Article
- Successful editing and maintenance of lactogenic gene expression in primary bovine mammary epithelial cells.In vitro cellular & developmental biology. Animal · 2023Article
- Using QTL to Identify Genes and Pathways Underlying the Regulation and Production of Milk Components in Cattle.Animals : an open access journal from MDPI · 2023Review
- Sequence-based genome-wide association study of individual milk mid-infrared wavenumbers in mixed-breed dairy cattle.Genetics, selection, evolution : GSE · 2021Article
- Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes.Nature genetics · 2021Article
- Feeding System Resizes the Effects ofAnimals : an open access journal from MDPI · 2021Article
- Evaluation of non-synonym mutation in DGAT1 K232A as a marker for milk production traits in Ongole cattle and Murrah buffalo from Southern India.Tropical animal health and production · 2021Article
- Association of DGAT1 With Cattle, Buffalo, Goat, and Sheep Milk and Meat Production Traits.Frontiers in veterinary science · 2021Review
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9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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 studies that demonstrated differing levels of triglyceride synthesis between the two protein isoforms.
resultsWe used a large RNAseq dataset to re-examine the underlying mechanisms of this large milk production QTL, and hereby report novel expression-based functions of the chr14 g.1802265AA > GC variant that encodes the DGAT1 K232A substitution. Using expression QTL (eQTL) mapping, we demonstrate a highly-significant mammary eQTL for DGAT1, where the K232A mutation appears as one of the top associated variants for this effect. By conducting in vitro expression and splicing experiments in bovine mammary cell culture, we further show modulation of splicing efficiency by this mutation, likely through disruption of an exon splice enhancer as a consequence of the allele encoding the 232A variant.
conclusionsThe relative contributions of the enzymatic and transcription-based mechanisms now attributed to K232A remain unclear; however, these results suggest that transcriptional impacts contribute to the diversity of lactation effects observed at the DGAT1 locus.
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