Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP.

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dc.citation.issue1
dc.citation.volume54
dc.contributor.authorDavis SR
dc.contributor.authorWard HE
dc.contributor.authorKelly V
dc.contributor.authorPalmer D
dc.contributor.authorAnkersmit-Udy AE
dc.contributor.authorLopdell TJ
dc.contributor.authorBerry SD
dc.contributor.authorLittlejohn MD
dc.contributor.authorTiplady K
dc.contributor.authorAdams LF
dc.contributor.authorCarnie K
dc.contributor.authorBurrett A
dc.contributor.authorThomas N
dc.contributor.authorSnell RG
dc.contributor.authorSpelman RJ
dc.contributor.authorLehnert K
dc.coverage.spatialFrance
dc.date.accessioned2024-11-06T19:39:08Z
dc.date.available2024-11-06T19:39:08Z
dc.date.issued2022-03-16
dc.description.abstractBackground Milk samples from 10,641 dairy cattle were screened by a mass spectrometry method for extreme concentrations of the A or B isoforms of the whey protein, β-lactoglobulin (BLG), to identify causative genetic variation driving changes in BLG concentration. Results A cohort of cows, from a single sire family, was identified that produced milk containing a low concentration of the BLG B protein isoform. A genome-wide association study (GWAS) of BLG B protein isoform concentration in milk from AB heterozygous cows, detected a group of highly significant single nucleotide polymorphisms (SNPs) within or close to the BLG gene. Among these was a synonymous G/A variation at position + 78 bp in exon 1 of the BLG gene (chr11:103256256G > A). The effect of the A allele of this SNP (which we named B’) on BLG expression was evaluated in a luciferase reporter assay in transfected CHO-K1 and MCF-7 cells. In both cell types, the presence of the B’ allele in a plasmid containing the bovine BLG gene from -922 to + 898 bp (relative to the transcription initiation site) resulted in a 60% relative reduction in mRNA expression, compared to the plasmid containing the wild-type B sequence allele. Examination of a mammary RNAseq dataset (n = 391) identified 14 heterozygous carriers of the B’ allele which were homozygous for the BLG B protein isoform (BB’). The level of expression of the BLG B’ allele was 41.9 ± 1.0% of that of the wild-type BLG B allele. Milk samples from three cows, homozygous for the A allele at chr11:103,256,256 (B’B’), were analysed (HPLC) and showed BLG concentrations of 1.04, 1.26 and 1.83 g/L relative to a mean of 4.84 g/L in milk from 16 herd contemporaries of mixed (A and B) BLG genotypes. The mechanism by which B’ downregulates milk BLG concentration remains to be determined. Conclusions High-throughput screening and identification of outliers, enabled the discovery of a synonymous G > A mutation in exon 1 of the B allele of the BLG gene (B’), which reduced the milk concentration of β-lactoglobulin B protein isoform, by more than 50%. Milk from cows carrying the B’ allele is expected to have improved processing characteristics, particularly for cheese-making.
dc.description.confidentialfalse
dc.format.pagination22-
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/35296234
dc.identifier.citationDavis SR, Ward HE, Kelly V, Palmer D, Ankersmit-Udy AE, Lopdell TJ, Berry SD, Littlejohn MD, Tiplady K, Adams LF, Carnie K, Burrett A, Thomas N, Snell RG, Spelman RJ, Lehnert K. (2022). Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP.. Genet Sel Evol. 54. 1. (pp. 22-).
dc.identifier.doi10.1186/s12711-022-00711-z
dc.identifier.eissn1297-9686
dc.identifier.elements-typejournal-article
dc.identifier.issn0999-193X
dc.identifier.numberARTN 22
dc.identifier.pii10.1186/s12711-022-00711-z
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/71936
dc.languageeng
dc.publisherBioMed Central Ltd
dc.publisher.urihttps://gsejournal.biomedcentral.com/articles/10.1186/s12711-022-00711-z
dc.relation.isPartOfGenet Sel Evol
dc.rights(c) The author/sen
dc.rights.licenseCC BYen
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectAnimals
dc.subjectCattle
dc.subjectFemale
dc.subjectGenome-Wide Association Study
dc.subjectLactoglobulins
dc.subjectMilk
dc.subjectPolymorphism, Single Nucleotide
dc.subjectProtein Isoforms
dc.titleScreening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP.
dc.typeJournal article
pubs.elements-id452420
pubs.organisational-groupCollege of Health
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