Single nucleotide polymorphisms in ATP1A1 gene and their association with thermotolerance traits in Sahiwal and Karan Fries cattle (original) (raw)
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Association of ATP1A1 gene polymorphism with thermotolerance in Tharparkar and Vrindavani cattle
Veterinary World, 2015
Aim: One of the major biochemical aspects of thermoregulation is equilibrium of ion gradient across biological membranes. Na + /K +-ATPase, a member of P type-ATPase family, is a major contributor to the mechanism that actively controls crossmembrane ion gradient. Thus, we examined ATP1A1 gene that encodes alpha-1 chain of Na + /K +-ATPase, for genetic polymorphisms. Materials and Methods: A total of 100 Vrindavani (composite cross strain of Hariana x Holstein-Friesian/Brown Swiss/ Jersey) and 64 Tharparkar (indigenous) cattle were screened for genetic polymorphism in ATP1A1 gene, using polymerase chain reaction single-strand conformation polymorphism and DNA sequencing. For association studies, rectal temperature (RT) and respiration rate (RR) of all animals were recorded twice daily for 3 seasons. Results: A SNP (C2789A) was identified in exon 17 of ATP1A1 gene. Three genotypes namely CC, CA, and AA were observed in both, Vrindavani and Tharparkar cattle. The gene frequencies in Tharparkar and Vrindavani for allele A were 0.51 and 0.48, and for allele C were 0.49 and 0.52, respectively, which remained at intermediate range. Association study of genotypes with RT and RR in both cattle population revealed that the animals with genotype CC exhibited significantly lower RT and higher heat tolerance coefficient than CA and AA genotypes. Conclusion: Differential thermoregulation between different genotypes of ATP1A1 gene indicate that the ATP1A1 gene could be potentially contributing to thermotolerance in both, Tharparkar, an indigenous breed and Vrindavani, a composite crossbred cattle.
Global warming and climate change have become the major threat to the sustainability of livestock production systems worldwide. Heat stress produces oxidative stress and affects the alternation of plasma K+ and Na+. In the plasma membrane the ion gradients formed by Na+-K+-ATPase enzyme is necessary for Na+-coupled transport of metabolites, nutrients and ions and represents a plausible candidate for heat tolerance traits. ATP1A1 gene encodes for α subunit of Na+-K+-ATPase enzyme, has been mapped on BTA 3 and spans about 22.77 kb and includes 23 exons and coding sequence of 3066 nucleotides. The present study was carried out in 35 Jersey crossbred cows with the objectives to identify SNPs in targeted regions (part of exon 16 to intron 18) of ATP1A1 gene and to analyze their association with respiration rate and rectal temperature. A total of five SNPs (A27008223G, T27008097A, C27008016T, G27008015A and C27007790A) were identified in Jersey crossbred cattle. Respiration rate (RR) and rectal temperature (RT) was recorded once during probable extreme hours in winter, spring and summer season. Further, heat tolerance coefficient (HTC) also calculated to see the adaptability of the animals during the period of heat stress. RT in Jersey crossbred cows for AA (38.01±0.16a) and GG (37.86±0.14a) genotype at A27008223G locus did not differ significantly while RR for CA genotype at C27007790A locus was highest (21.76±1.68a) as compared to CC (19.25±1.155b) and AA (16.91±1.57ab) genotypes and HTC for CA genotype at C27007790A locus was highest (1.94±0.07a) as compared to CC (1.83±0.05b) and AA (1.72±0.07ab) genotypes. It is concluded that AA genotype at 27007790 nucleotide position in Jersey crossbred cows were desirable for respiration rate and heat tolerance coefficient respectively.
Determination of ATP1A1 Gene Polymorphism in the Turkish Holstein Cattle
International Journal of Innovative Approaches in Agricultural Research
Heat stress is an important factor negatively affecting the productive characteristics, immune response and reproductive performance of livestock. Sustainable livestock systems that can tolerate the impact of increasing environmental temperature are very important to ensure global food security. Oxidative stress triggered by heat stress influences plasma Na and K levels in cattle. The ATP1A1 gene encodes the α1 isoform that forms the transmembrane subunit of the NA,K ATPase enzyme. The α subunit plays a major role in maintaining sodium-potassium homeostasis in all animal cells. The aim of the study was to determine ATP1A1 gene polymorphisms in Turkish Holstein cattle. The target regions (intron 17 and exon 18) were amplified and sequenced in 50 Turkish Holstein cattle. Multiple alignments revealed three SNP. rs109703332 A>G and rs110455455 C>T were detected in intron 17 and a synonymous SNP rs110256520 C>A in exon 18. It was observed that the three SNPs were in strong linkage disequilibrium (LD) with each other and therefore had the same genotype and allele frequencies. The three SNPs were found to be highly linked in one haplotype block. This haplotype block consisted of 2 haplotypes (CCA and ATG). The frequency of the CCA haplotype was 0.860 and the ATG was 0.140. Individuals of Holstein cattle tolerate heat stress to different levels. This difference between individuals may be due to variations in the genes involved in the adaptation mechanism. Therefore, it is important to identify polymorphisms in genes involved in the heat stress tolerance mechanism. In conclusion, in this study, the three SNPs and the two haplotypes were determined on the ATP1A1 gene in Turkish Holsteins cattle.
Veterinary World, 2015
The present study was undertaken to identify novel single nucleotide polymorphism (SNP) in Exon 3 of HSP90AA1 gene and to analyze their association with respiration rate (RR) and rectal temperature (RT) in Sahiwal cows. Materials and Methods: The present study was carried out in Sahiwal cows (n=100) with the objectives to identify novel SNP in exon 3 of HSP90AA1 gene and to explore the association with heat tolerance traits. CLUSTAL-W multiple sequence analysis was used to identify novel SNPs in exon 3 of HSP90AA1 gene in Sahiwal cows. Gene and genotype frequencies of different genotypes were estimated by standard procedure POPGENE version 1.32 (University of Alberta, Canada). The significant effect of SNP variants on physiological parameters, e.g. RR and RT were analyzed using the General Linear model procedure of SAS Version 9.2. Results: The polymerase chain reaction product with the amplicon size of 450 bp was successfully amplified, covering exon 3 region of HSP90AA1 gene in Sahiwal cows. On the basis of comparative sequence analysis of Sahiwal samples (n=100), transitional mutations were detected at locus A1209G as compared to Bos taurus (NCBI GenBank AC_000178.1). After chromatogram analysis, three genotypes AA, AG, and GG with respective frequencies of 0.23, 0.50, and 0.27 ascertained. RR and RT were recorded once during probable extreme hours in winter, spring, and summer seasons. It was revealed that significant difference (p<0.01) among genetic variants of HSP90AA1 gene with heat tolerance trait was found in Sahiwal cattle. The homozygotic animals with AA genotype had lower heat tolerance coefficient (HTC) (1.78±0.04 a), as compared to both AG and GG genotypes (1.85±0.03 b and 1.91±0.02 c), respectively. The gene and genotype frequencies for the locus A1209G were ascertained. Conclusions: Novel SNP was found at the A1209G position showed all possible three genotypes (homozygous and heterozygous). Temperature humidity index has a highly significant association with RR, RT, and HTC in all the seasons. Perusal of results across different seasons showed the significant (p<0.01) difference in RR, RT, and HTC among winter, spring, and summer seasons. Genetic association with heat tolerance traits reveals their importance as a potential genetic marker for heat tolerance traits in Sahiwal cows.
GENETIC VARIATION ANALYSIS OF ATPASE GENE AND ITS ASSOCIATION WITH MILK COMPONENTS IN CATTLE
There are huge number of cattle breeds or types are present all over the world and employed in different activities. The present study aimed to identify genetic variations and SNPs in mtDNA ATP6/8; among Holstein, Local Iraqi cattle and their crosses. The primer used in this study amplified 929-bp fragments from ATP6/8 gene. The results showed the presence of 8, 1 and 13 polymorphic sites leading to the construction of 5, 2 and 2 different haplotypes for Holstein, local and crosses respectively. Haplotype and nucleotide diversity were 0.576, 0.500 and 0.4786 and 0.00164, 0.00062 and 0.00763 respectively. Neighbor-joining trees were constructed using 34 samples showed that all studied cattle appeared into haplotype 1(H1), while Holstein also appeared in H4, H5, H6 and H7. Local breed included in H2 and the crosses in H3. AMOVA showed that variation within breed (between individuals was higher (85.83%) than between breeds (14.17%). Neutrality test both Tajim's D and Fu's Fs revealed that Holstein recorded highest negative values (-1.98343 and-1.18604 respectively). Whereas, the crosses cattle recorded positive values (0.91273 and 6.95086 respectively). The local breed showed positive and negative values near to zero (-0.61237 and 0.17185 respectively). Different haplotypes within Holstein breed associated significantly with fat%, lactose% and SNF%. Haplotypes 5 and 7 recorded highest percentages of fat, lactose and SNF when compared to other haplotypes. However, there were no such association within local or cross cattle. In conclusion, the identification of genetic variations and SNPs in cattle mitochondrial genes like ATP6/8 agene is of great interest because it has significant association with play important milk components and it can be recognized as a genetic marker for milk yield in cattle.
Journal of Dairy Science, 2017
Heat stress represents a key factor that negatively affects the productive and reproductive performance of farm animals. In the present work, a new measure of tolerance to heat stress for dairy cattle was developed using principal component analysis. Data were from 590,174 test-day records for milk yield, fat and protein percentages, and somatic cell score of 39,261 Italian Holstein cows. Test-day records adjusted for main systematic factors were grouped into 11 temperaturehumidity index (THI) classes. Daughter trait deviations (DTD) were calculated for 1,540 bulls as means of the adjusted test-day records for each THI class. Principal component analysis was performed on the DTD for each bull. The first 2 principal components (PC) explained 42 to 51% of the total variance of the system across the 4 traits. The first PC, a measure of the level at which the curve is located, was interpreted as a measure of the level at which the DTD curve was located. The second PC, which shows the slope of increasing or decreases DTD curves, synthesized the behavior of the DTD pattern. Heritability of the 2 component scores was moderate to high for level across all traits (range = 0.23-0.82) and low to moderate for slope (range = 0.16-0.28). For each trait, phenotypic and genetic correlations between level and slope were equal to zero. A genome-wide association analysis was carried out on a subsample of 423 bulls genotyped with the Illumina 50K bovine bead chip (Illumina, San Diego, CA). Two single nucleotide polymorphisms were significantly associated with slope for milk yield, 4 with level for fat percentage, and 2 with level and slope of protein percentage, respectively. The gene discovery was carried out considering windows of 0.5 Mb surrounding the significant markers and highlighted some interesting candidate genes. Some of them have been already associated with the mechanism of heat tolerance as the heat shock transcription factor (HSF1) and the malonyl-CoA-acyl carrier protein transacylase (MCAT). The 2 PC were able to describe the overall level and the slope of response of milk production traits across increasing levels of THI index. Moreover, they exhibited genetic variability and were genetically uncorrelated. These features suggest their use as measures of thermotolerance in dairy cattle breeding schemes.
Genes and models for estimating genetic parameters for heat tolerance in dairy cattle
Frontiers in Genetics
Dairy cattle are highly susceptible to heat stress. Heat stress causes a decline in milk yield, reduced dry matter intake, reduced fertility rates, and alteration of physiological traits (e.g., respiration rate, rectal temperature, heart rates, pulse rates, panting score, sweating rates, and drooling score) and other biomarkers (oxidative heat stress biomarkers and stress response genes). Considering the significant effect of global warming on dairy cattle farming, coupled with the aim to reduce income losses of dairy cattle farmers and improve production under hot environment, there is a need to develop heat tolerant dairy cattle that can grow, reproduce and produce milk reasonably under the changing global climate and increasing temperature. The identification of heat tolerant dairy cattle is an alternative strategy for breeding thermotolerant dairy cattle for changing climatic conditions. This review synthesizes information pertaining to quantitative genetic models that have been...
Animal biotechnology, 2015
Heat shock proteins (Hsp) play crucial role in cellular thermotolerance and heat stress response. In the present work, Allele specific PCR (AS-PCR) was standardized to detect the nucleotide polymorphism within the HSP90AB1 gene (SNP g.4338T>C) in Indian breeds of dairy cattle. The identified genotypes were associated with relative thermotolerance in terms of physiological parameters and milk production traits. The results of the experiments revealed that the genotype frequency of CC, CT, and TT for Sahiwal were 0.05, 0.78, and 0.17, respectively, and in Frieswal, the frequencies were 0.20, 0.70, and 0.10, respectively. The average rectal temperature (ART) and average respiration rates (ARR) were recorded during peak summer stress and heat tolerance coefficient (HTC) was calculated. The association studies indicated that TT genotypes had significantly (P < 0.01) higher HTC and lower ARR values than CT and CC in both the breeds. The TT genotype animals also had better production...