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  1. AU="Lund, Mogens Sandø"
  2. AU="Rocha, Clarissa A Gurgel"
  3. AU="Pfahler, Verena"
  4. AU="Baltussen, Joosje C"
  5. AU="Lei-Shen"
  6. AU="Baeuchl, Christian"
  7. AU="Terra RM (Instituto Do Câncer De Estado De São Paulo). Bulgaria: Sokolov M (University Hospital Alexandrovska)., Canada: Kidane B" AU="Terra RM (Instituto Do Câncer De Estado De São Paulo). Bulgaria: Sokolov M (University Hospital Alexandrovska)., Canada: Kidane B"
  8. AU="KIRKUP, DON"
  9. AU="Phan, Isabelle"
  10. AU="García-Carrera, Inés"
  11. AU=Rude Robert K
  12. AU="Ferragalli, Beatrice"
  13. AU="Negrão Ferreira, Fabielle"
  14. AU="Acin, Yolène"
  15. AU="Zarrintan, Armin"
  16. AU="Anne Schedel"
  17. AU="Youngmin Bu"
  18. AU="Edriss, Fatima"
  19. AU="Liu, Changxue"
  20. AU="Spruit, Martijn A"
  21. AU="Zhang, Dai-Gui"
  22. AU="Appelen, Diebrecht"
  23. AU="Moreira, Jânio Cordeiro"

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  1. Artikel ; Online: A breed-of-origin of alleles model that includes crossbred data improves predictive ability for crossbred animals in a multi-breed population.

    Guillenea, Ana / Lund, Mogens Sandø / Evans, Ross / Boerner, Vinzent / Karaman, Emre

    Genetics, selection, evolution : GSE

    2023  Band 55, Heft 1, Seite(n) 34

    Abstract: Background: Recently, crossbred animals have begun to be used as parents in the next generations of dairy and beef cattle systems, which has increased the interest in predicting the genetic merit of those animals. The primary objective of this study was ...

    Abstract Background: Recently, crossbred animals have begun to be used as parents in the next generations of dairy and beef cattle systems, which has increased the interest in predicting the genetic merit of those animals. The primary objective of this study was to investigate three available methods for genomic prediction of crossbred animals. In the first two methods, SNP effects from within-breed evaluations are used by weighting them by the average breed proportions across the genome (BPM method) or by their breed-of-origin (BOM method). The third method differs from the BOM in that it estimates breed-specific SNP effects using purebred and crossbred data, considering the breed-of-origin of alleles (BOA method). For within-breed evaluations, and thus for BPM and BOM, 5948 Charolais, 6771 Limousin and 7552 Others (a combined population of other breeds) were used to estimate SNP effects separately within each breed. For the BOA, the purebreds' data were enhanced with data from ~ 4K, ~ 8K or ~ 18K crossbred animals. For each animal, its predictor of genetic merit (PGM) was estimated by considering the breed-specific SNP effects. Predictive ability and absence of bias were estimated for crossbreds and the Limousin and Charolais animals. Predictive ability was measured as the correlation between PGM and the adjusted phenotype, while the regression of the adjusted phenotype on PGM was estimated as a measure of bias.
    Results: With BPM and BOM, the predictive abilities for crossbreds were 0.468 and 0.472, respectively, and with the BOA method, they ranged from 0.490 to 0.510. The performance of the BOA method improved as the number of crossbred animals in the reference increased and with the use of the correlated approach, in which the correlation of SNP effects across the genome of the different breeds was considered. The slopes of regression for PGM on adjusted phenotypes for crossbreds showed overdispersion of the genetic merits for all methods but this bias tended to be reduced by the use of the BOA method and by increasing the number of crossbred animals.
    Conclusions: For the estimation of the genetic merit of crossbred animals, the results from this study suggest that the BOA method that accommodates crossbred data can yield more accurate predictions than the methods that use SNP effects from separate within-breed evaluations.
    Mesh-Begriff(e) Animals ; Cattle/genetics ; Alleles ; Polymorphism, Single Nucleotide ; Models, Genetic ; Genomics/methods ; Phenotype ; Genotype
    Sprache Englisch
    Erscheinungsdatum 2023-05-15
    Erscheinungsland France
    Dokumenttyp Journal Article
    ZDB-ID 1005838-2
    ISSN 1297-9686 ; 0754-0264 ; 0999-193X
    ISSN (online) 1297-9686
    ISSN 0754-0264 ; 0999-193X
    DOI 10.1186/s12711-023-00806-1
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  2. Artikel ; Online: Genome-wide association study identifies functional genomic variants associated with young stock survival in Nordic Red Dairy Cattle.

    Cai, Zexi / Wu, Xiaoping / Thomsen, Bo / Lund, Mogens Sandø / Sahana, Goutam

    Journal of dairy science

    2023  Band 106, Heft 11, Seite(n) 7832–7845

    Abstract: Identifying quantitative trait loci (QTL) associated with calf survival is essential for both reducing economic loss in cattle industry and understanding the genetic basis of the trait. To identify mutations and genes underlying young stock survival (YSS) ...

    Abstract Identifying quantitative trait loci (QTL) associated with calf survival is essential for both reducing economic loss in cattle industry and understanding the genetic basis of the trait. To identify mutations and genes underlying young stock survival (YSS), we performed GWAS using de-regressed estimated breeding values of a YSS index and its component traits defined by sex and age in 3,077 Nordic Red Dairy Cattle (RDC) bulls and 2 stillbirth traits (first lactation and later lactations) in 5,141 RDC bulls. Two associated QTL regions on Bos taurus autosome (BTA) 4 and 6 were identified for the YSS index. The results of 4 YSS component traits indicate that same QTL regions were associated with bull and heifer calf mortality, but the effects were different over the growing period and suggested an additional QTL on BTA23. The GWAS on stillbirth identified 3 additional QTL regions on BTA5, 14, and 24 compared with YSS and its component traits. The conditional test of BTA6 showed at least 2 closely located QTL segregating for YSS component traits and stillbirth. We found 2 independent QTL for stillbirth on BTA23. The post-GWAS revealed LCORL, PPM1K, SSP1, MED28, and LAP3 are putative causal genes on BTA6, and a frame shift variant within LCORL, BTA6:37401770 (rs384548488) could be the putative causal variant. On BTA4, the GRB10 gene is the putative causal gene and BTA4:5296018 is the putative causal variant. In addition, NDUFA9 and FGF23 on BTA5, LYN on BTA14, and KCNK5 on BTA23 are putative causal genes for QTL for stillbirth. The gene analysis also proposed several candidate genes. Our findings shed new light on the candidate genes affecting calf survival, and the knowledge could be utilized to reduce calf mortality and thereby enhance welfare of dairy cattle.
    Sprache Englisch
    Erscheinungsdatum 2023-08-23
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 242499-x
    ISSN 1525-3198 ; 0022-0302
    ISSN (online) 1525-3198
    ISSN 0022-0302
    DOI 10.3168/jds.2023-23252
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  3. Artikel: Positive Selection and Adaptive Introgression of Haplotypes from Bos indicus Improve the Modern Bos taurus Cattle

    Zhang, Qianqian / Schönherz, Anna Amanda / Lund, Mogens Sandø / Guldbrandtsen, Bernt

    Agriculture (Basel). 2022 June 11, v. 12, no. 6

    2022  

    Abstract: Complex evolutionary processes, such as positive selection and introgression can be characterized by in-depth assessment of sequence variation on a whole-genome scale. Here, we demonstrate the combined effects of positive selection and adaptive ... ...

    Abstract Complex evolutionary processes, such as positive selection and introgression can be characterized by in-depth assessment of sequence variation on a whole-genome scale. Here, we demonstrate the combined effects of positive selection and adaptive introgression on genomes, resulting in observed hotspots of runs of homozygosity (ROH) haplotypes on the modern bovine (Bos taurus) genome. We first confirm that these observed ROH hotspot haplotypes are results of positive selection. The haplotypes under selection, including genes of biological interest, such as PLAG1, KIT, CYP19A1 and TSHB, were known to be associated with productive traits in modern Bos taurus cattle breeds. Among the haplotypes under selection, we demonstrate that the CYP19A1 haplotype under selection was associated with milk yield, a trait under strong recent selection, demonstrating a likely cause of the selective sweep. We further deduce that selection on haplotypes containing KIT variants affecting coat color occurred approximately 250 generations ago. The study on the genealogies and phylogenies of these haplotypes identifies that the introgression events of the RERE and REG3G haplotypes happened from Bos indicus to Bos taurus. With the aid of sequencing data and evolutionary analyses, we here report introgression events in the formation of the current bovine genome.
    Schlagwörter agriculture ; color ; haplotypes ; homozygosity ; introgression ; milk yield ; phylogeny ; sequence diversity ; zebu
    Sprache Englisch
    Erscheinungsverlauf 2022-0611
    Erscheinungsort Multidisciplinary Digital Publishing Institute
    Dokumenttyp Artikel
    ZDB-ID 2651678-0
    ISSN 2077-0472
    ISSN 2077-0472
    DOI 10.3390/agriculture12060844
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  4. Artikel: Reliabilities of Genomic Prediction for Young Stock Survival Traits Using 54K SNP Chip Augmented With Additional Single-Nucleotide Polymorphisms Selected From Imputed Whole-Genome Sequencing Data.

    Gebreyesus, Grum / Lund, Mogens Sandø / Sahana, Goutam / Su, Guosheng

    Frontiers in genetics

    2021  Band 12, Seite(n) 667300

    Abstract: This study investigated effects of integrating single-nucleotide polymorphisms (SNPs) selected based on previous genome-wide association studies (GWASs), from imputed whole-genome sequencing (WGS) data, in the conventional 54K chip on genomic prediction ... ...

    Abstract This study investigated effects of integrating single-nucleotide polymorphisms (SNPs) selected based on previous genome-wide association studies (GWASs), from imputed whole-genome sequencing (WGS) data, in the conventional 54K chip on genomic prediction reliability of young stock survival (YSS) traits in dairy cattle. The WGS SNPs included two groups of SNP sets that were selected based on GWAS in the Danish Holstein for YSS index (YSS_SNPs,
    Sprache Englisch
    Erscheinungsdatum 2021-07-19
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2021.667300
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Large-scale association study on daily weight gain in pigs reveals overlap of genetic factors for growth in humans.

    Cai, Zexi / Christensen, Ole Fredslund / Lund, Mogens Sandø / Ostersen, Tage / Sahana, Goutam

    BMC genomics

    2022  Band 23, Heft 1, Seite(n) 133

    Abstract: Background: Imputation from genotyping array to whole-genome sequence variants using resequencing of representative reference populations enhances our ability to map genetic factors affecting complex phenotypes in livestock species. The accumulation of ... ...

    Abstract Background: Imputation from genotyping array to whole-genome sequence variants using resequencing of representative reference populations enhances our ability to map genetic factors affecting complex phenotypes in livestock species. The accumulation of knowledge about gene function in human and laboratory animals can provide substantial advantage for genomic research in livestock species.
    Results: In this study, 201,388 pigs from three commercial Danish breeds genotyped with low to medium (8.5k to 70k) SNP arrays were imputed to whole genome sequence variants using a two-step approach. Both imputation steps achieved high accuracies, and in total this yielded 26,447,434 markers on 18 autosomes. The average estimated imputation accuracy of markers with minor allele frequency ≥ 0.05 was 0.94. To overcome the memory consumption of running genome-wide association study (GWAS) for each breed, we performed within-breed subpopulation GWAS then within-breed meta-analysis for average daily weight gain (ADG), followed by a multi-breed meta-analysis of GWAS summary statistics. We identified 15 quantitative trait loci (QTL). Our post-GWAS analysis strategy to prioritize of candidate genes including information like gene ontology, mammalian phenotype database, differential expression gene analysis of high and low feed efficiency pig and human GWAS catalog for height, obesity, and body mass index, we proposed MRAP2, LEPROT, PMAIP1, ENSSSCG00000036234, BMP2, ELFN1, LIG4 and FAM155A as the candidate genes with biological support for ADG in pigs.
    Conclusion: Our post-GWAS analysis strategy helped to identify candidate genes not just by distance to the lead SNP but also by multiple sources of biological evidence. Besides, the identified QTL overlap with genes which are known for their association with human growth-related traits. The GWAS with this large data set showed the power to map the genetic factors associated with ADG in pigs and have added to our understanding of the genetics of growth across mammalian species.
    Mesh-Begriff(e) Animals ; Breeding ; Genome-Wide Association Study ; Genotype ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Swine/genetics ; Weight Gain/genetics
    Sprache Englisch
    Erscheinungsdatum 2022-02-15
    Erscheinungsland England
    Dokumenttyp Journal Article ; Meta-Analysis
    ZDB-ID 2041499-7
    ISSN 1471-2164 ; 1471-2164
    ISSN (online) 1471-2164
    ISSN 1471-2164
    DOI 10.1186/s12864-022-08373-3
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel: Genome-wide association study with imputed whole-genome sequence variants including large deletions for female fertility in 3 Nordic dairy cattle breeds

    Mesbah-Uddin, Md / Guldbrandtsen, Bernt / Capitan, Aurélien / Lund, Mogens Sandø / Boichard, Didier / Sahana, Goutam

    American Dairy Science Association Journal of dairy science. 2022 Feb., v. 105, no. 2

    2022  

    Abstract: Fertility is an economically important trait in livestock. Poor fertility in dairy cattle can be due to loss-of-function variants affecting any essential gene that causes early embryonic mortality in homozygotes. To identify fertility-associated ... ...

    Abstract Fertility is an economically important trait in livestock. Poor fertility in dairy cattle can be due to loss-of-function variants affecting any essential gene that causes early embryonic mortality in homozygotes. To identify fertility-associated quantitative trait loci, we performed single-marker association analyses for 8 fertility traits in Holstein, Jersey, and Nordic Red Dairy cattle using imputed whole-genome sequence variants including SNPs, indels, and large deletion. We then performed stepwise selection of independent markers from GWAS loci using conditional and joint association analyses. From single-marker analyses for fertility traits, we reported genome-wide significant associations of 30,384 SNPs, 178 indels, and 3 deletions in Holstein; 23,481 SNPs, 189 indels, and 13 deletions in Nordic Red; and 17 SNPs in Jersey cattle. Conditional and joint association analyses identified 37 and 23 independent associations in Holstein and Nordic Red Dairy cattle, respectively. Fertility-associated GWAS loci were enriched for developmental and cellular processes (Gene Ontology enrichment, false discovery rate < 0.05). For these quantitative trait loci regions (top marker and 500 kb of surrounding regions), we proposed several candidate genes with functional annotations corresponding to embryonic lethality and various fertility-related phenotypes in mouse and cattle. The inclusion of these top markers in future releases of the custom SNP chip used for genomic evaluations will enable their validation in independent populations and improve the accuracy of genomic predictions.
    Schlagwörter Holstein ; Jersey ; dairy cattle ; dairy science ; embryonic mortality ; female fertility ; gene ontology ; genes ; genome-wide association study ; genomics ; homozygosity ; loss-of-function mutation ; mice ; quantitative traits
    Sprache Englisch
    Erscheinungsverlauf 2022-02
    Umfang p. 1298-1313.
    Erscheinungsort Elsevier Inc.
    Dokumenttyp Artikel
    ZDB-ID 242499-x
    ISSN 1525-3198 ; 0022-0302
    ISSN (online) 1525-3198
    ISSN 0022-0302
    DOI 10.3168/jds.2021-20655
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  7. Artikel ; Online: MeSCoT: the tool for quantitative trait simulation through the mechanistic modeling of genes' regulatory interactions.

    Milkevych, Viktor / Karaman, Emre / Sahana, Goutam / Janss, Luc / Cai, Zexi / Lund, Mogens Sandø

    G3 (Bethesda, Md.)

    2021  Band 11, Heft 7

    Abstract: This work represents a novel mechanistic approach to simulate and study genomic networks with accompanying regulatory interactions and complex mechanisms of quantitative trait formation. The approach implemented in MeSCoT software is conceptually based ... ...

    Abstract This work represents a novel mechanistic approach to simulate and study genomic networks with accompanying regulatory interactions and complex mechanisms of quantitative trait formation. The approach implemented in MeSCoT software is conceptually based on the omnigenic genetic model of quantitative (complex) trait, and closely imitates the basic in vivo mechanisms of quantitative trait realization. The software provides a framework to study molecular mechanisms of gene-by-gene and gene-by-environment interactions underlying quantitative trait's realization and allows detailed mechanistic studies of impact of genetic and phenotypic variance on gene regulation. MeSCoT performs a detailed simulation of genes' regulatory interactions for variable genomic architectures and generates complete set of transcriptional and translational data together with simulated quantitative trait values. Such data provide opportunities to study, for example, verification of novel statistical methods aiming to integrate intermediate phenotypes together with final phenotype in quantitative genetic analyses or to investigate novel approaches for exploiting gene-by-gene and gene-by-environment interactions.
    Mesh-Begriff(e) Quantitative Trait Loci ; Models, Genetic ; Gene Regulatory Networks ; Epistasis, Genetic ; Phenotype
    Sprache Englisch
    Erscheinungsdatum 2021-05-19
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2629978-1
    ISSN 2160-1836 ; 2160-1836
    ISSN (online) 2160-1836
    ISSN 2160-1836
    DOI 10.1093/g3journal/jkab133
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  8. Artikel ; Online: Genome-wide association study with imputed whole-genome sequence variants including large deletions for female fertility in 3 Nordic dairy cattle breeds.

    Mesbah-Uddin, Md / Guldbrandtsen, Bernt / Capitan, Aurélien / Lund, Mogens Sandø / Boichard, Didier / Sahana, Goutam

    Journal of dairy science

    2021  Band 105, Heft 2, Seite(n) 1298–1313

    Abstract: Fertility is an economically important trait in livestock. Poor fertility in dairy cattle can be due to loss-of-function variants affecting any essential gene that causes early embryonic mortality in homozygotes. To identify fertility-associated ... ...

    Abstract Fertility is an economically important trait in livestock. Poor fertility in dairy cattle can be due to loss-of-function variants affecting any essential gene that causes early embryonic mortality in homozygotes. To identify fertility-associated quantitative trait loci, we performed single-marker association analyses for 8 fertility traits in Holstein, Jersey, and Nordic Red Dairy cattle using imputed whole-genome sequence variants including SNPs, indels, and large deletion. We then performed stepwise selection of independent markers from GWAS loci using conditional and joint association analyses. From single-marker analyses for fertility traits, we reported genome-wide significant associations of 30,384 SNPs, 178 indels, and 3 deletions in Holstein; 23,481 SNPs, 189 indels, and 13 deletions in Nordic Red; and 17 SNPs in Jersey cattle. Conditional and joint association analyses identified 37 and 23 independent associations in Holstein and Nordic Red Dairy cattle, respectively. Fertility-associated GWAS loci were enriched for developmental and cellular processes (Gene Ontology enrichment, false discovery rate < 0.05). For these quantitative trait loci regions (top marker and 500 kb of surrounding regions), we proposed several candidate genes with functional annotations corresponding to embryonic lethality and various fertility-related phenotypes in mouse and cattle. The inclusion of these top markers in future releases of the custom SNP chip used for genomic evaluations will enable their validation in independent populations and improve the accuracy of genomic predictions.
    Mesh-Begriff(e) Animals ; Cattle/genetics ; Female ; Fertility/genetics ; Genome-Wide Association Study/veterinary ; Mice ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/genetics
    Sprache Englisch
    Erscheinungsdatum 2021-12-23
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 242499-x
    ISSN 1525-3198 ; 0022-0302
    ISSN (online) 1525-3198
    ISSN 0022-0302
    DOI 10.3168/jds.2021-20655
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  9. Artikel: Distinguishing pleiotropy from linked QTL between milk production traits and mastitis resistance in Nordic Holstein cattle

    Cai, Zexi / Dusza, Magdalena / Guldbrandtsen, Bernt / Lund, Mogens Sandø / Sahana, Goutam

    Genetics, selection, evolution. 2020 Dec., v. 52, no. 1

    2020  

    Abstract: BACKGROUND: Production and health traits are central in cattle breeding. Advances in next-generation sequencing technologies and genotype imputation have increased the resolution of gene mapping based on genome-wide association studies (GWAS). Thus, ... ...

    Abstract BACKGROUND: Production and health traits are central in cattle breeding. Advances in next-generation sequencing technologies and genotype imputation have increased the resolution of gene mapping based on genome-wide association studies (GWAS). Thus, numerous candidate genes that affect milk yield, milk composition, and mastitis resistance in dairy cattle are reported in the literature. Effect-bearing variants often affect multiple traits. Because the detection of overlapping quantitative trait loci (QTL) regions from single-trait GWAS is too inaccurate and subjective, multi-trait analysis is a better approach to detect pleiotropic effects of variants in candidate genes. However, large sample sizes are required to achieve sufficient power. Multi-trait meta-analysis is one approach to deal with this problem. Thus, we performed two multi-trait meta-analyses, one for three milk production traits (milk yield, protein yield and fat yield), and one for milk yield and mastitis resistance. RESULTS: For highly correlated traits, the power to detect pleiotropy was increased by multi-trait meta-analysis compared with the subjective assessment of overlapping of single-trait QTL confidence intervals. Pleiotropic effects of lead single nucleotide polymorphisms (SNPs) that were detected from the multi-trait meta-analysis were confirmed by bivariate association analysis. The previously reported pleiotropic effects of variants within the DGAT1 and MGST1 genes on three milk production traits, and pleiotropic effects of variants in GHR on milk yield and fat yield were confirmed. Furthermore, our results suggested that variants in KCTD16, KCNK18 and ENSBTAG00000023629 had pleiotropic effects on milk production traits. For milk yield and mastitis resistance, we identified possible pleiotropic effects of variants in two genes, GC and DGAT1. CONCLUSIONS: Multi-trait meta-analysis improves our ability to detect pleiotropic interactions between milk production traits and identifies variants with pleiotropic effects on milk production traits and mastitis resistance. In particular, this should contribute to better understand the biological mechanisms that underlie the unfavorable genetic correlation between milk yield and mastitis.
    Schlagwörter Holstein ; cattle breeding ; chromosome mapping ; confidence interval ; dairy cattle ; detection ; evolution ; genes ; genetic correlation ; genome-wide association study ; genotype ; high-throughput nucleotide sequencing ; lead ; literature ; mastitis ; meta-analysis ; milk composition ; milk yield ; pleiotropy ; quantitative trait loci ; sample size ; single nucleotide polymorphism
    Sprache Englisch
    Erscheinungsverlauf 2020-12
    Umfang p. 19.
    Erscheinungsort BioMed Central
    Dokumenttyp Artikel
    ZDB-ID 1005838-2
    ISSN 1297-9686 ; 0754-0264 ; 0999-193X
    ISSN (online) 1297-9686
    ISSN 0754-0264 ; 0999-193X
    DOI 10.1186/s12711-020-00538-6
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  10. Artikel ; Online: Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle.

    Cai, Zexi / Guldbrandtsen, Bernt / Lund, Mogens Sandø / Sahana, Goutam

    BMC genetics

    2019  Band 20, Heft 1, Seite(n) 15

    Abstract: Background: Genome-wide association studies (GWAS) have been successfully implemented in cattle research and breeding. However, moving from the associations to identify the causal variants and reveal underlying mechanisms have proven complicated. In ... ...

    Abstract Background: Genome-wide association studies (GWAS) have been successfully implemented in cattle research and breeding. However, moving from the associations to identify the causal variants and reveal underlying mechanisms have proven complicated. In dairy cattle populations, we face a challenge due to long-range linkage disequilibrium (LD) arising from close familial relationships in the studied individuals. Long range LD makes it difficult to distinguish if one or multiple quantitative trait loci (QTL) are segregating in a genomic region showing association with a phenotype. We had two objectives in this study: 1) to distinguish between multiple QTL segregating in a genomic region, and 2) use of external information to prioritize candidate genes for a QTL along with the candidate variants.
    Results: We observed fixing the lead SNP as a covariate can help to distinguish additional close association signal(s). Thereafter, using the mammalian phenotype database, we successfully found candidate genes, in concordance with previous studies, demonstrating the power of this strategy. Secondly, we used variant annotation information to search for causative variants in our candidate genes. The variant information successfully identified known causal mutations and showed the potential to pinpoint the causative mutation(s) which are located in coding regions.
    Conclusions: Our approach can distinguish multiple QTL segregating on the same chromosome in a single analysis without manual input. Moreover, utilizing information from the mammalian phenotype database and variant effect predictor as post-GWAS analysis could benefit in candidate genes and causative mutations finding in cattle. Our study not only identified additional candidate genes for milk traits, but also can serve as a routine method for GWAS in dairy cattle.
    Mesh-Begriff(e) Animals ; Cattle ; Dairying ; Databases, Genetic ; Linkage Disequilibrium ; Milk/metabolism ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci/genetics
    Sprache Englisch
    Erscheinungsdatum 2019-01-29
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1471-2156
    ISSN (online) 1471-2156
    DOI 10.1186/s12863-019-0717-0
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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