ArticleBMC genomics2014
A SNP in intron 8 of CD46 causes a novel transcript associated with mastitis in Holsteins.
Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 53 citations in OpenAlex.
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- The Hoof Color of Australian White Sheep Is Associated with Genetic Variation of theAnimals : an open access journal from MDPI · 2023Article
- New Insights on Nucleotide Sequence Variants and mRNA Levels of Candidate Genes Assessing Resistance/Susceptibility to Mastitis in Holstein and Montbéliarde Dairy Cows.Veterinary sciences · 2023Article
- Genetic polymorphisms in immune- and inflammation-associated genes and their association with bovine mastitis resistance/susceptibility.Frontiers in immunology · 2023Review
- Genetic polymorphisms ofFrontiers in veterinary science · 2022Article
- Characterization of peripheral white blood cells transcriptome to unravel the regulatory signatures of bovine subclinical mastitis resistance.Frontiers in genetics · 2022Article
- Population validation of reproductive gene mutation loci and association with the litter size in Nubian goat.Archives animal breeding · 2021Article
- Genome Wide Prediction, Mapping and Development of Genomic Resources of Mastitis Associated Genes in Water Buffalo.Frontiers in veterinary science · 2021Article
- The role of O-polysaccharide chain and complement resistance of Escherichia coli in mammary virulence.Veterinary research · 2020Article
- Goat3 Biotech · 2020Article
- Influence of Genetic Variance on Biomarker Levels After Occupational Exposure to 1,6-Hexamethylene Diisocyanate Monomer and 1,6-Hexamethylene Diisocyanate Isocyanurate.Frontiers in genetics · 2020Article
- Genome-Wide SNPs and InDels Characteristics of Three Chinese Cattle Breeds.Animals : an open access journal from MDPI · 2019Article
- Derived Polymorphic Amplified Cleaved Sequence (dPACS): A Novel PCR-RFLP Procedure for Detecting Known Single Nucleotide and Deletion-Insertion Polymorphisms.International journal of molecular sciences · 2019Article
- Two Insertion/Deletion Variants withinAnimals : an open access journal from MDPI · 2019Article
- Production of an aberrant splice variant of CCL5 is not caused by genetic mutation in the mammary glands of mastitis‑infected Holstein cows.Molecular medicine reports · 2019Article
- Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.European journal of human genetics : EJHG · 2019Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe membrane protein CD46, a ubiquitous cell surface pathogen receptor, can bind Streptococcus to trigger cell autophagy, which is a critical step in the control of infection.
resultsIn this study, we found a new splice variant designated CD46 transcript variant (CD46-TV). The splice variant is characterized by the retention of a 48 bp sequence from intron 8 of the bovine CD46 gene, which encodes a putative protein enlarged by 16 amino acids. CD46-TV mRNA was found to be over expressed in mastitis-infected mammary gland tissues relative to healthy tissues. A single nucleotide polymorphism (c. 1033 + 2184 C > T) in the exonic splicing enhancer (ESE) motif region was shown to result in the CD46-TV aberrant splice variant through constructing alternative alleles using the pSPL3 exon capturing vector and transfecting these into 293 T cells. Allelic frequency in 56,682 individuals belonging to 112 Bos taurus, Bos indicus, Bos javanicus, Bos grunniens and Bos mutus, etc. suggests that the C allele (80.09%) is the ancestral allele. Association analysis found that the mean genomic estimated breeding values (gEBV) for milk somatic cell score and the occurrence of clinical mastitis, as well as the milk somatic cell score of Chinese Holsteins with the CT genotype was lower than those of individuals with either the CC or TT genotypes. The mean gEBV for udder health synthesis for the TT genotype was greater than those for the CC or CT genotypes.
conclusionsOur findings suggest that the CD46 gene likely plays a critical role in the risk of mastitis caused by Streptococcus in dairy cows via an alternative splicing mechanism caused by a functional mutation in intron 8. Our data also underline the importance of variation within ESEs in regulating transcript processing.
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