ArticleBMC genomics2017
DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content.
Article in BMC genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 78 citations in OpenAlex.
- Resolving Cattle GWAS Loci: Current Progress, Persistent Challenges and Future Directions.Current issues in molecular biology · 2026Review
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- Comparison of genomic prediction accuracies in dairy cattle lactation traits using five classes of functional variants versus generic SNP.Genetics, selection, evolution : GSE · 2025Article
- The RNF214-TEAD-YAP signaling axis promotes hepatocellular carcinoma progression via TEAD ubiquitylation.Nature communications · 2024Article
- A common regulatory haplotype doubles lactoferrin concentration in milk.Genetics, selection, evolution : GSE · 2024Article
- Structural variants and short tandem repeats impact gene expression and splicing in bovine testis tissue.Genetics · 2023Article
- Molecular Characteristics and Polymorphisms of Buffalo (Animals : an open access journal from MDPI · 2023Article
- Successful editing and maintenance of lactogenic gene expression in primary bovine mammary epithelial cells.In vitro cellular & developmental biology. Animal · 2023Article
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- 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
- Genetic variation in histone modifications and gene expression identifies regulatory variants in the mammary gland of cattle.BMC genomics · 2022Article
- BayesR3 enables fast MCMC blocked processing for largescale multi-trait genomic prediction and QTN mapping analysis.Communications biology · 2022Article
- Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP.Genetics, selection, evolution : GSE · 2022Article
- Non-additive QTL mapping of lactation traits in 124,000 cattle reveals novel recessive loci.Genetics, selection, evolution : GSE · 2022Article
- Investigation of β-hydroxybutyrate in early lactation of Simmental cows: Genetic parameters and genomic predictions.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2021Article
- Evidence for and localization of proposed causative variants in cattle and pig genomes.Genetics, selection, evolution : GSE · 2021Review
- Sequence-based genome-wide association study of individual milk mid-infrared wavenumbers in mixed-breed dairy cattle.Genetics, selection, evolution : GSE · 2021Article
- A 12 kb multi-allelic copy number variation encompassing a GC gene enhancer is associated with mastitis resistance in dairy cattle.PLoS genetics · 2021Article
- The genomes of precision edited cloned calves show no evidence for off-target events or increased de novo mutagenesis.BMC genomics · 2021Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundLactose provides an easily-digested energy source for neonates, and is the primary carbohydrate in milk in most species. Bovine lactose is also a key component of many human food products. However, compared to analyses of other milk components, the genetic control of lactose has been little studied. Here we present the first GWAS focussed on analysis of milk lactose traits.
resultsUsing a discovery population of 12,000 taurine dairy cattle, we detail 27 QTL for lactose concentration and yield, and subsequently validate the effects of 26 of these loci in a distinct population of 18,000 cows. We next present data implicating causative genes and variants for these QTL. Fine mapping of these regions using imputed, whole genome sequence-resolution genotypes reveals protein-coding candidate causative variants affecting the ABCG2, DGAT1, STAT5B, KCNH4, NPFFR2 and RNF214 genes. Eleven of the remaining QTL appear to be driven by regulatory effects, suggested by the presence of co-locating, co-segregating eQTL discovered using mammary RNA sequence data from a population of 357 lactating cows. Pathway analysis of genes representing all lactose-associated loci shows significant enrichment of genes located in the endoplasmic reticulum, with functions related to ion channel activity mediated through the LRRC8C, P2RX4, KCNJ2 and ANKH genes. A number of the validated QTL are also found to be associated with additional milk volume, fat and protein phenotypes.
conclusionsOverall, these findings highlight novel candidate genes and variants involved in milk lactose regulation, whose impacts on membrane transport mechanisms reinforce the key osmo-regulatory roles of lactose in milk.
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