Sequence analysis of the regulatory region of the TNF-RII gene in Polish Holstein-Friesian cows.

Tumor necrosis factor receptor type II (TNF-RII) is a surface glycoprotein that can form a complex with TNF-α and participate in the body's immune response. Functions of TNF-RII are impaired in the pathogenesis of viral diseases. We analyzed sequences in the regulatory region of the TNF-RII gene in cattle. An attempt was also made to identify mutations that would have the greatest effect on the expression of the TNF-RII gene. Selected fragments of the regulatory region of the TNF-RII gene (5'-flanking region, fragments of intron 1 and 3'-UTR) were sequenced and analyzed. Seven of the 37 analyzed mutations listed in the dbSNP base (NCBI, Gene ID 338033) were confirmed. Three previously unidentified mutations were also discovered: G/A at position -1085 (5'-flanking region), C/T at position 6338 and CA dinucleotide STR [alleles (CA)2, (CA)5, (CA)7] at position 16512 (intron 1). Two single nucleotide polymorphisms with potentially the greatest effect on TNF-RII gene expression were identified, at position 16534 in intron 1 (rs42686850) and at position 33102 in the 3'-UTR (rs136228480). Further study is needed to determine whether these mutations found in the regulatory region influence TNF-RII gene expression, modulate the body's immune response and susceptibility to infections.