A SNP in intron 8 of CD46 causes a novel transcript associated with mastitis in Holsteins.

ABSTRACT:

Background

The 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.

Results

In 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 usi

SUBMITTER: Wang X 

PROVIDER: S-EPMC4124149 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature