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Due to the functions that estrogens play in the regulation of reproduction, development of mammary gland, growth and differentiation of cells, estrogen receptors and their genes are considered candidates for molecular markers of production and functional traits in farm animals. In this study,using the SSCP and DNA sequencing, we found a novel single nucleotide polymorphism (SNP) in the coding region of the estrogen receptor α (ERα) gene – the A/C transversion at position 323,396 (relative to the start of transcription site), in exon 7, that could be also detected with RFLP-CfrI.This mutation causes the amino acid replacement – Asparatic acid/Alanine in the ligand-binding domain (LBD) of the receptor.The ERα A/C (RFLP-CfrI) genotypes were estimated in a cohort of 489 cattle of different breeds,including 355 Red-and-White cows. Association was studied between ERα genotype and dairy production traits (milk yield and composition) and functional traits (reproduction, length of productive life). The results showed that ERα A/C genotype affected significantly only a few traits of interest: protein and fat content in milk, sex of calves born. No associations were detected between ERα genotype and milk yield and reproduction traits of Red-and-White cows.
Calpastatin (CAST) is a specific inhibitor of the ubiquitous calcium-dependent proteases – μ-calpain and m-calpain, found in mammalian tissues. The level of components included into the calpain-calpastatin system determine the rate of post mortem tenderization of meat.In the coding region of the bovine CAST gene (CAST) the new nucleotide sequence polymorphism was found being a substitution G→C at position 61 nt within the exon 1C (consensus sequence – GenBank AF117813). This sequence fragment of SNP position has already been deposited in the GenBank database under accession no. AY258325. Consensus of bovine CAST sequence with that of human (GenBank M86257 and M28230) revealed that G→C substitution was located at position 1460 nt of exon 12. Computer analysis of the mutation showed the Ser→Thr substitution at position 20 of amino acid sequence of CAST protein. The mutation creates a new AluI restriction site and,therefore, can be easily detected with PCR-RFLP.The CAST RFLP-AluI polymorphism was studied in 138 bulls of seven breeds, including the native Polish Red (PR, preserved), and Polish Black-and-White (BW) breed. The frequency of alleles C and G varied between the breeds considered, the mean reaching 0.69 and 0.31, respectively. No homozygous genotype GG was found in Red Angus, Charolaise and Hereford bulls.
Two novel single nucleotide polymorphisms (SNPs) were found in the bovine β4-defensin gene intron – A/C transversion at position 1674 and C/T transition at position 1877 – both recognized with BsrI endonuclease. Observed frequencies of the A1674C AA, AC, CC genotypes were 0.65, 0.32 and 0.03, respectively, while those of alleles A and C – 0.81 and 0.19. For the C1877T polymorphism in the Polish-Friesian (PF) population studied only the CC homozygotes (frequency 0.94) and CT heterozygotes (frequency 0.06) were found. Associations were evaluated between the A1687C polymorphism and milk production traits of cows. The data set comprised 8814 records of daily milk, fat, protein and ECM yields, fat, protein, lactose and dry matter contents, and somatic cell count (SCC) of milk of 352 cows. Moreover, 897 records were used of milk fat and milk protein yield and content achiewed in the whole and the standard 305-day lactation, as well as estimates of breeding values of these traits in 352 animals from official recording of milk performance (National Breeding Programme). In the whole lactation the β4-defensin gene A1674C polymorphism was fund significantly related to protein yield while in the standard lactation to fat and protein contents.Moreover, the polymorphism was found related to the breeding value for protein yield, and for FAT and protein content.
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