Now showing 1 - 10 of 13
  • Publication
    Genomic prediction for parasite resistance in sheep using whole-genome sequence data
    Genomic prediction for parasite resistance in sheep using whole-genome sequence data The objective of the study is to compare QTL mapping precision and the accuracy of genomic prediction for parasite resistance in sheep using pre-selected variants identified from the high-density SNP panel (600k) and the imputed whole-genome sequence (WGS) data and to evaluate the prediction accuracy when using selected SNPs. The results of this paper show that the use of WGS variants located within or close to QTL regions can improve the prediction accuracy of parasite resistance compared to using variants selected from the high-density SNP panel.
  • Publication
    Genetic diversity and effective population sizes of thirteen Indian cattle breeds
    (BioMed Central Ltd, 2021-06-01) ; ;
    Swaminathan, Marimuthu
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    Joshi, Sachin
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    Background: The genetic structure of a diverse set of 15 Indian indigenous breeds and non-descript indigenous cattle sampled from eight states was examined, based on 777 k single nucleotide polymorphism (SNP) genotypes obtained on 699 animals, with sample sizes ranging from 17 to 140 animals per breed. To date, this is the largest and most detailed assessment of the genetic diversity of Indian cattle breeds.

    Results: Admixture analyses revealed that 109 of the indigenous animals analyzed had more than 1% Bos taurus admixture of relatively recent origin. Pure indigenous animals were defined as having more than 99% Bos indicus ancestry. Assessment of the genetic diversity within and between breeds using principal component analyses, F statistics, runs of homozygosity, the genomic relationship matrix, and maximum likelihood clustering based on allele frequencies revealed a low level of genetic diversity among the indigenous breeds compared to that of Bos taurus breeds. Correlations of SNP allele frequencies between breeds indicated that the genetic variation among the Bos indicus breeds was remarkably low. In addition, the variance in allele frequencies represented less than 1.5% between the Indian indigenous breeds compared to about 40% between Bos taurus dairy breeds. Effective population sizes (Ne) increased during a period post-domestication, notably for Ongole cattle, and then declined during the last 100 generations. Although we found that most of the identified runs of homozygosity are short in the Indian indigenous breeds, indicating no recent inbreeding, the high FROH coefficients and low FIS values point towards small population sizes. Nonetheless, the Ne of the Indian indigenous breeds is currently still larger than that of Bos taurus dairy breeds.

    Conclusions: The changes in the estimates of effective population size are consistent with domestication from a large native population followed by consolidation into breeds with a more limited population size. The surprisingly low genetic diversity among Indian indigenous cattle breeds might be due to their large Ne since their domestication, which started to decline only 100 generations ago, compared to approximately 250 to 500 generations for Bos taurus dairy cattle.

  • Publication
    Inference of Ancestries and Heterozygosity Proportion and Genotype Imputation in West African Cattle Populations
    (Frontiers Research Foundation, 2021-03) ; ; ;
    Marshall, Karen
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    Missohou, Ayao
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    Several studies have evaluated computational methods that infer the haplotypes from population genotype data in European cattle populations. However, little is known about how well they perform in African indigenous and crossbred populations. This study investigates: (1) global and local ancestry inference; (2) heterozygosity proportion estimation; and (3) genotype imputation in West African indigenous and crossbred cattle populations. Principal component analysis (PCA), ADMIXTURE, and LAMP-LD were used to analyse a medium-density single nucleotide polymorphism (SNP) dataset from Senegalese crossbred cattle. Reference SNP data of East and West African indigenous and crossbred cattle populations were used to investigate the accuracy of imputation from low to medium-density and from medium to high-density SNP datasets using Minimac v3. The first two principal components differentiated Bos indicus from European Bos taurus and African Bos taurus from other breeds. Irrespective of assuming two or three ancestral breeds for the Senegalese crossbreds, breed proportion estimates from ADMIXTURE and LAMP-LD showed a high correlation (r ≥ 0.981). The observed ancestral origin heterozygosity proportion in putative F1 crosses was close to the expected value of 1.0, and clearly differentiated F1 from all other crosses. The imputation accuracies (estimated as correlation) between imputed and the real data in crossbred animals ranged from 0.142 to 0.717 when imputing from low to medium-density, and from 0.478 to 0.899 for imputation from medium to high-density. The imputation accuracy was generally higher when the reference data came from the same geographical region as the target population, and when crossbred reference data was used to impute crossbred genotypes. The lowest imputation accuracies were observed for indigenous breed genotypes. This study shows that ancestral origin heterozygosity can be estimated with high accuracy and will be far superior to the use of observed individual heterozygosity for estimating heterosis in African crossbred populations. It was not possible to achieve high imputation accuracy in West African crossbred or indigenous populations based on reference data sets from East Africa, and population-specific genotyping with high-density SNP assays is required to improve imputation.
  • Publication
    Developing flexible models for genetic evaluations in smallholder crossbred dairy farms
    (Elsevier Inc, 2023-12)
    Costilla, R
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    Zeng, J
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    Swaminathan, M
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    Ducrocq, V
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    Hayes, B J

    The productivity of smallholder dairy farms is very low in developing countries. Important genetic gains could be realized using genomic selection, but genetic evaluations need to be tailored for lack of pedigree information and very small farm sizes. To accommodate this situation, we propose a flexible Bayesian model for the genetic evaluation of milk yield, which allows us to simultaneously account for nongenetic random effects for farms and varying SNP variance (BayesR model). First, we used simulations based on real genotype data from Indian crossbred dairy cattle to demonstrate that the proposed model can separate the true genetic and nongenetic parameters even for small farm sizes (2 cows on average) although with high standard errors in scenarios with low heritability. The accuracy of genomic genetic evaluation increased until farm size was approximately 5. We then applied the model to real data from 4,655 crossbred cows with 106,109 monthly test day milk records and 689,750 autosomal SNPs. We estimated a heritability of 0.16 (0.04) for milk yield and using cross-validation, a genomic estimated breeding value (GEBV) accuracy of 0.45 and bias (regression of phenotype on GEBV) of 1.04 (0.26). Estimated genetic parameters were very similar using BayesR, BayesC, and genomic BLUP approaches. Candidate genes near the top variants, IMMP2L and ARHGEF2, have been previously associated with milk protein composition, mastitis resistance, and milk cholesterol content. The estimated heritability and GEBV accuracy for milk yield are much lower than those from intensive or pasture-based systems in many countries. Further increases in the number of phenotyped and genotyped animals in farms with at least 2 cows (preferably 3–5, to allow for dropout of cows) are needed to improve the estimation of genetic effects in these smallholder dairy farms.

  • Publication
    Genetic Variation and Estimating Breeding Values for Small-holder Crossbred Dairy Cattle in India
    (Association for the Advancement of Animal Breeding and Genetics (AAABG), 2019) ;
    Gaundare, Y
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    Swaminathan, M
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    Joshi, S
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    Ducrocq, V
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    We report the results of the first large scale milk recording and genetic evaluation for crossbred cows in a smallholder dairy production system in India. Preliminary results represented 8,144 smallholder crossbred cows with a total of 140,214 daily milk records, of which 2,946 animals were genotyped with the GGP Bovine and Illumina SNP assays. Data were adjusted for fixed effects and analysed with a random regression (RR) model with the 1st degree Legendre polynomial and heterogeneous variance. Heritabilities of milk yield ranged from 0.14 to 0.22 throughout the lactation period, with an average value of 0.19. Genomic Estimated breeding values (GEBV) for the genotyped animals including the smallholder crossbred cows and the bulls and dams from the BAIF bull stud ranged from +1.9 to -1.4 kg/day. The moderate heritability of the milk yield found in our results together with the wide range of GEBV, indicate that a good response to genomic selection for milk yield can be expected for smallholder dairy farms in India.
  • Publication
    Detection of genomic regions that differentiate Bos indicus from Bos taurus ancestral breeds for milk yield in Indian crossbred cows
    (Frontiers Research Foundation, 2023-01-09) ;
    Swaminathan, Marimuthu
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    Podtar, Vinod
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    Jadhav, Santoshkumar
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    Dhanikachalam, Velu
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    Joshi, Akshay
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    Introduction: In India, crossbred cows incorporate the high production of B. taurus dairy breeds and the environmental adaptation of local B. indicus cattle. Adaptation to different environments and selection in milk production have shaped the genetic differences between B. indicus and B. taurus cattle. The aim of this paper was to detect, for milk yield of crossbred cows, quantitative trait loci (QTL) that differentiate B. indicus from B. taurus ancestry, as well as QTL that are segregating within the ancestral breeds.

    Methods: A total of 123,042 test-day milk records for 4,968 crossbred cows, genotyped with real and imputed 770 K SNP, were used. Breed origins were assigned to haplotypes of crossbred cows, and from that, were assigned to SNP alleles.

    Results: At a false discovery rate (FDR) of 30%, a large number of genomic regions showed significant effects of B. indicus versus B. taurus origin on milk yield, with positive effects coming from both ancestors. No significant regions were detected for Holstein Friesian (HF) versus Jersey effects on milk yield. Additionally, no regions for SNP alleles segregating within indigenous, within HF, and within Jersey were detected. The most significant effects, at FDR 5%, were found in a region on BTA5 (43.98–49.44 Mbp) that differentiates B. indicus from B. taurus, with an estimated difference between homozygotes of approximately 10% of average yield, in favour of B. indicus origin.

    Discussion: Our results indicate that evolutionary differences between B. indicus and B. taurus cattle for milk yield, as expressed in crossbred cows, occur at many causative loci across the genome. Although subject to the usual first estimation bias, some of the loci appear to have large effects that might make them useful for genomic selection in crossbreds, if confirmed in subsequent studies.

  • Publication
    Using Genomic Information for Genetic Improvements of Gastrointestinal Parasite Resistance in Australian Sheep
    The aim of the present thesis was to identify genomic regions associated with parasite resistance in sheep and to evaluate the potential improvements in genomic prediction accuracies when incorporating genomic information in estimating breeding values. Data were derived from a large reference population of sheep developed in Australia, based on the CRC Information Nucleus Flock (INF). Worm egg counts (WEC) were collected from animals that were naturally infected in the field with mixed gastrointestinal worm species. Egg counts determined the presence of three predominant strongyle species; Teladorsagia circumcincta, Haemonchus contortus, and Trichostrongylus colubriformis. Heritability estimate for WEC based on pedigree relationships (0.20±0.03) was similar to those obtained from genomic relationships calculated from 50k and 600k genotypes. In a genome partitioning analysis, the genetic variance explained by each chromosome was proportional to the chromosomal length, providing strong evidence that parasite resistance is a polygenic trait with a large number of loci underlying the mechanism of resistance.
    Genome wide association studies (GWAS) and regional heritability mapping (RHM) identified a significant region on OAR2 associated with parasite resistance. Haplotype analysis confirmed a haplotype block within this region on OAR2, which overlaps with GALNTL6 (Polypeptide N-Acetylgalactosaminyltransferase Like 6) gene, responsible for mucus production. Fine-mapping RHM analysis with smaller window sizes identified more significant regions on OAR6, OAR18, OAR24 as well as OAR20 within the major histocompatibility complex (MHC). Each region explained only a small proportion of WEC heritability, ranging from 2% to 5%. Pathway analyses revealed key genes involved in innate and acquired immune system pathways as well as cytokine signalling pathways. Mucus production and haemostasis are also relevant in protecting the host from parasite infections.
    The accuracy of genomic predictions was evaluated for different groups of animals that had varying degree of relationships to their respective training populations. A closer relationship between the training and validation groups led to a higher accuracy of genomic prediction for WEC. GBLUP predicted breeding values more accurately than pedigree-based BLUP, especially when the relationship between training and validation groups was distant. These results highlight the importance of the relationships between animals in training and validation sets as a key factor in determining prediction accuracies.
    The increased availability of whole-genome sequence (WGS) data, combined with a larger number of genotyped animals, made it possible to split datasets into QTL discovery and training/validation subsets and evaluate the prediction accuracy across the three marker densities. The performance of genomic prediction was evaluated using cross-validation design across sire families. Prediction accuracy of WEC improved slightly from 0.16±0.02 using 50k genotypes to 0.18±0.01 and 0.19±0.01 when using HD and WGS data, respectively. Variants selected from WGS data using GWAS and RHM methods improved the prediction accuracy substantially, when fitted alongside 50k genotypes, compared to when the 50k genotypes were fitted alone. However, when variant selection was based only on GWAS, the prediction accuracy increased by 5%, whereas when selection was limited to variants with the lowest GWAS p-values in windows identified by RHM, the prediction accuracy increased by 9%. These findings offer potentially important implications for future genomic prediction studies for parasite resistance.
  • Publication
    Using imputed whole-genome sequence data to improve the accuracy of genomic prediction for parasite resistance in Australian sheep
    (BioMed Central Ltd, 2019-06-26) ; ; ;
    Daetwyler, Hans D
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    MacLeod, Iona
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    Hong Lee, Sang
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    Background: This study aimed at (1) comparing the accuracies of genomic prediction for parasite resistance in sheep based on whole-genome sequence (WGS) data to those based on 50k and high-density (HD) single nucleotide polymorphism (SNP) panels; (2) investigating whether the use of variants within quantitative trait loci (QTL) regions that were selected from regional heritability mapping (RHM) in an independent dataset improved the accuracy more than variants selected from genome-wide association studies (GWAS); and (3) comparing the prediction accuracies between variants selected from WGS data to variants selected from the HD SNP panel.

    Results: The accuracy of genomic prediction improved marginally from 0.16 ± 0.02 and 0.18 ± 0.01 when using all the variants from 50k and HD genotypes, respectively, to 0.19 ± 0.01 when using all the variants from WGS data. Fitting a GRM from the selected variants alongside a GRM from the 50k SNP genotypes improved the prediction accuracy substantially compared to fitting the 50k SNP genotypes alone. The gain in prediction accuracy was slightly more pronounced when variants were selected from WGS data compared to when variants were selected from the HD panel. When sequence variants that passed the GWAS -log10(p value) threshold of 3 across the entire genome were selected, the prediction accuracy improved by 5% (up to 0.21 ± 0.01), whereas when selection was limited to sequence variants that passed the same GWAS −log10(p value) threshold of 3 in regions identified by RHM, the accuracy improved by 9% (up to 0.25 ± 0.01).

    Conclusions: Our results show that through careful selection of sequence variants from the QTL regions, the accuracy of genomic prediction for parasite resistance in sheep can be improved. These findings have important implications for genomic prediction in sheep.

  • Publication
    Genomic evaluation of milk yield in a smallholder crossbred dairy production system in India
    (BioMed Central Ltd, 2021-09-10) ;
    Swaminathan, Marimuthu
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    Gaundare, Yuvraj
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    Joshi, Sachin
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    Ducrocq, Vincent
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    Background: India is the largest milk producer globally, with the largest proportion of cattle milk production coming from smallholder farms with an average herd size of less than two milking cows. These cows are mainly undefined multi-generation crosses between exotic dairy breeds and indigenous Indian cattle, with no performance or pedigree recording. Therefore, implementing genetic improvement based on genetic evaluation has not yet been possible. We present the first results from a large smallholder performance recording program in India, using single nucleotide polymorphism (SNP) genotypes to estimate genetic parameters for monthly test-day (TD) milk records and to obtain and validate genomic estimated breeding values (GEBV).

    Results: The average TD milk yield under the high, medium, and low production environments were 9.64, 6.88, and 4.61 kg, respectively. In the high production environment, the usual profile of a lactation curve was evident, whereas it was less evident in low and medium production environments. There was a clear trend of an increasing milk yield with an increasing Holstein Friesian (HF) proportion in the high production environment, but no increase above intermediate grades in the medium and low production environments. Trends for Jersey were small but yield estimates had a higher standard error than HF. Heritability estimates for TD yield across the lactation ranged from 0.193 to 0.250, with an average of 0.230. The additive genetic correlations between TD yield at different times in lactation were high, ranging from 0.846 to 0.998. The accuracy of phenotypic validation of GEBV from the method that is believed to be the least biased was 0.420, which was very similar to the accuracy obtained from the average prediction error variance of the GEBV.

    Conclusions: The results indicate strong potential for genomic selection to improve milk production of smallholder crossbred cows in India. The performance of cows with different breed compositions can be determined in different Indian environments, which makes it possible to provide better advice to smallholder farmers on optimum breed composition for their environment.

  • Publication
    Identification of Loci Associated with Parasite Resistance in Australian Sheep
    (Association for the Advancement of Animal Breeding and Genetics (AAABG), 2015) ; ;
    This study aimed to identify loci underlying variation in parasite resistance, as measured by worm egg count (WEC), in a large multi-breed sheep population using genome-wide association studies (GWAS) and regional heritability mapping (RHM) approaches. A total of 7153 animals with both genotype data and WEC phenotypes were included in this analysis. Strong evidence of association was observed on chromosome 2 by both approaches. However, RHM had a greater power to identify loci than GW AS analysis. RHM identified an additional region at the genomewide significance level on chromosome 6. This region was also previously found to be associated with mastitis resistance and facial eczema susceptibility in sheep, indicating that some pleiotropic effects are possibly affecting a wide range of sheep diseases. Three other regions on chromosome I, 3 and 24 reached the suggestive threshold.