Bovine spongiform encephalopathy (BSE) is a fatal disease in cattle caused by misfolded prion proteins and linked to indel polymorphisms in the promoter and intron 1 of the gene. The aim of this study was to determine the allele, genotype, and haplotype frequencies of indel polymorphisms and to investigate the effect of gene expressions of 23 bp and 12 bp indels via polymerase chain reaction (PCR) in Zhongdian Yak () (YK), Zhongdian Yellow cattle () (YC), and Zhongdian Yakow ( × ) (PK). Resultant high allelic frequencies were found in 23- and 12+, while haplotype frequencies were very low in 23+/12 in YK, YC, and PK. expression was higher in the +-/-- diplotype of the PK and (mean ± SE) was 3.6578 ± 1.85964. Furthermore, two variable sites were investigated-a 23 bp indel polymorphism holding AP1 binding site and a 12 bp indel polymorphism holding SP1 binding site. Additionally, reporter gene assays revealed a link between two proposed transcription factors and lower expression levels of the +/+ allele compared with the -/- allele. The expression level of was shown to be dependent on two indel polymorphisms in the bovine promoter, which includes binding sites for RP58 and SP1 transcription factors. These findings raised the possibility that the genotype may contribute to the high variation in expression.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10705791 | PMC |
http://dx.doi.org/10.3390/ani13233627 | DOI Listing |
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