• Title/Summary/Keyword: Fixed SNPs

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Evaluation of Single Nucleotide Polymorphisms (SNPs) Genotyped by the Illumina Bovine SNP50K in Cattle Focusing on Hanwoo Breed

  • Dadi, Hailu;Kim, Jong-Joo;Yoon, Du-Hak;Kim, Kwan-Suk
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.1
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    • pp.28-32
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    • 2012
  • In the present study, we evaluated the informativeness of SNPs genotyped by the Illumina Bovine SNP50K assay in different cattle breeds. To investigate these on a genome-wide scale, we considered 52,678 SNPs spanning the whole autosomal and X chromosomes in cattle. Our study samples consists of six different cattle breeds. Across the breeds approximately 72 and 6% SNPs were found polymorphic and fixed or close to fix in all the breeds, respectively. The variations in the average minor allele frequency (MAF) were significantly different between the breeds studied. The level of average MAF observed in Hanwoo was significantly lower than the other breeds. Hanwoo breed also displayed the lowest number of polymorphic SNPs across all the chromosomes. More importantly, this study indicated that the Bovine SNP50K assay will have reduced power for genome-wide association studies in Hanwoo as compared to other cattle breeds. Overall, the Bovine SNP50K assay described in this study offer a useful genotyping platform for mapping quantitative trait loci (QTLs) in the cattle breeds. The assay data represent a vast and generally untapped resource to assist the investigation of the complex production traits and the development of marker-assisted selection programs.

Identification of sex-specific SNPS in burbot Lota lota using RAD sequencing: conservation and management applications

  • Vu, Ninh V.;Eardley, Daniel L.;Delomas, Thomas A.;Campbell, Matthew R.
    • Fisheries and Aquatic Sciences
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    • v.22 no.8
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    • pp.18.1-18.5
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    • 2019
  • The development of sex-specific genetic assays in a species provides both a method for identifying the system of sex determination and a valuable tool to address questions of conservation and management importance. In this study, we focused on the identification of single nucleotide polymorphisms (SNPs) that differentiate genetic sex in burbot Lota lota. Burbot are the only true freshwater representative of the cod family and a species of conservation and management importance throughout Eurasia and North America. To identify sex-specific SNPs, we utilized restriction site-associated DNA sequencing (RADseq) to interrogate thousands of SNPs in burbot samples of known phenotypic sex. We discovered 170,569 biallelic SNPs, none of which fit the pattern expected under female heterogamety. However, we identified 22 SNPs that fit the pattern expected under male heterogamety (males heterozygous XY, females fixed XX) and, from these, developed two genetic assays that robustly (~ 97% genotyping success) and accurately (> 99% correct) sexed burbot samples. These sex-specific genetic assays will benefit growing conservation aquaculture programs for this species and allow future assessments of sex-specific migration, growth, and mortality.

Identification of Genomic Differences between Hanwoo and Holstein Breeds Using the Illumina Bovine SNP50 BeadChip

  • Melka, Hailu Dadi;Jeon, Eun-Kyeong;Kim, Sang-Wook;Han, James-Bond;Yoon, Du-Hak;Kim, Kwan-Suk
    • Genomics & Informatics
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    • v.9 no.2
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    • pp.69-73
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    • 2011
  • The use of genomic information in genomic selection programs for dairy and beef cattle breeds has become a reality in recent years. In this investigation, we analyzed single-nucleotide polymorphisms (SNPs) for Hanwoo (n=50) and Holstein (n=50) breeds using the Illumina Bovine SNP50 BeadChip to facilitate genomic selection and utilization of the Hanwoo breed in Korea. Analysis of the entire genomes showed different spectra of SNP frequencies for Hanwoo and Holstein cattle. The study revealed a highly significant (p<0.001) difference between Hanwoo and Holstein cattle in minor allele frequency (MAF). The average MAFs were $0.19{\pm}0.16$ and $0.22{\pm}0.16$ for Hanwoo and Holstein, respectively. From the total of 52,337 SNPs that were successfully identified, about 72% and 79% were polymorphic in Hanwoos and Holsteins, respectively. Polymorphic and fixed SNPs were not distributed uniformly across the chromosomes within breeds or between the two breeds. The number of fixed SNPs on all chromosomes was higher in Hanwoo cattle, reflecting the genetic uniqueness of the Hanwoo breed. In general, the rate of polymorphisms detected in these two breeds suggests that the SNPs can be used for different applications, such as whole-genome association and comparative genetic studies, and are a helpful tool in developing breed identification genetic markers.

Whole Genome Association Study to Detect Single Nucleotide Polymorphisms for Behavior in Sapsaree Dog (Canis familiaris)

  • Ha, J.H.;Alama, M.;Lee, D.H.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.7
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    • pp.936-942
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    • 2015
  • The purpose of this study was to characterize genetic architecture of behavior patterns in Sapsaree dogs. The breed population (n=8,256) has been constructed since 1990 over 12 generations and managed at the Sapsaree Breeding Research Institute, Gyeongsan, Korea. Seven behavioral traits were investigated for 882 individuals. The traits were classified as a quantitative or a categorical group, and heritabilities ($h^2$) and variance components were estimated under the Animal model using ASREML 2.0 software program. In general, the $h^2$ estimates of the traits ranged between 0.00 and 0.16. Strong genetic ($r_G$) and phenotypic ($r_P$) correlations were observed between nerve stability, affability and adaptability, i.e. 0.9 to 0.94 and 0.46 to 0.68, respectively. To detect significant single nucleotide polymorphism (SNP) for the behavioral traits, a total of 134 and 60 samples were genotyped using the Illumina 22K CanineSNP20 and 170K CanineHD bead chips, respectively. Two datasets comprising 60 (Sap60) and 183 (Sap183) samples were analyzed, respectively, of which the latter was based on the SNPs that were embedded on both the 22K and 170K chips. To perform genome-wide association analysis, each SNP was considered with the residuals of each phenotype that were adjusted for sex and year of birth as fixed effects. A least squares based single marker regression analysis was followed by a stepwise regression procedure for the significant SNPs (p<0.01), to determine a best set of SNPs for each trait. A total of 41 SNPs were detected with the Sap183 samples for the behavior traits. The significant SNPs need to be verified using other samples, so as to be utilized to improve behavior traits via marker-assisted selection in the Sapsaree population.

Investigation of Single Nucleotide Polymorphisms in Porcine Chromosome 2 Quantitative Trait Loci for Meat Quality Traits

  • Do, K.T.;Ha, Y.;Mote, B.E.;Rothschild, M.F.;Choi, B.H.;Lee, S.S.;Kim, T.H.;Cho, B.W.;Kim, K.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.2
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    • pp.155-160
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    • 2008
  • Several studies have reported quantitative trait loci (QTL) for meat quality on porcine chromosome 2 (http://www.animalgenome.org/QTLdb/pig.html). For application of the molecular genetic information to the pig industry through marker-assisted selection, single nucleotide polymorphism (SNP) markers were analyzed by comparative re-sequencing of polymerase chain reaction (PCR) products of 13 candidate genes with DNA from commercial pig breeds such as Berkshire, Yorkshire, Landrace, Duroc and Korean Native pig. A total of 34 SNPs were identified in 15 PCR products producing an average of one SNP in every 253 bp. PCR restriction fragment length polymorphism (RFLP) assays were developed for 11 SNPs and used to investigate allele frequencies in five commercial pig breeds in Korea. Eight of the SNPs appear to be fixed in at least one of the five pig breeds, which indicates that different selection among pig breeds might be applied to these SNPs. Polymorphisms detected in the PTH, CSF2 and FOLR genes were chosen to genotype a Berkshire-Yorkshire pig breed reference family for linkage and association analyses. Using linkage analysis, PTH and CSF2 loci were mapped to pig chromosome 2, while FOLR was mapped to pig chromosome 9. Association analyses between SNPs in the PTH, CSF2 and FOLR suggested that the CSF2 MboII polymorphism was significantly associated with several pork quality traits in the Berkshire and Yorkshire crossed F2 pigs. Our current findings provide useful SNP marker information to fine map QTL regions on pig chromosome 2 and to clarify the relevance of SNP and quantitative traits in commercial pig populations.

Investigation of TYR and MC1R polymorphisms in Korean native chickens and the commercial chickens (토종닭과 실용계에서 TYR 및 MC1R 유전자의 변이 분석)

  • Heo, Kang-Nyeong;Choo, Hyo-Jun;Seo, Bo-Young;Park, Mi-Na;Jung, Kie-Chul;Hwang, Bo-Jong;Kim, Hak-Kyu;Hong, Eui-Chul;Seo, Ok-Suk;Kang, Bo-Seok
    • Korean Journal of Agricultural Science
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    • v.38 no.3
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    • pp.465-471
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    • 2011
  • The commercial Korean native chickens (WR_CC) was developed by crossing a few native chicken breeds in Korea. In order to investigate the breed identification markers, SNPs from TYR gene and MC1R gene, which are associated with skin and feather colors respectively, were initially identified. In case of 3 identified SNPs in the TYR gene, yellow shank color was identified in Loss, Harvard, AA, RIR and CC, which have the fixed SNPs in most of the animals. On the other hand, SNP variations were observed in KNC_RB, C_B, WR_CC and HH_CC, which have the black, yellow and mixed color with black and yellow shank colors. Also, the investigation of 3 SNPs in the MC1R gene indicated that there were associations between shank and feather colors in RIR, SF, KNC_B, C_B and RIR. However, these results are not consistent among breeds. These SNP type inconsistencies within breeds suggested that the selection was performed based on the phenotypes, which is not include the genotype information. Thus, selection based on genetic information is required in the future.

Application of Linkage Disequilibrium Mapping Methods to Detect QTL for Carcass Quality on Chromosome 6 Using a High Density SNP Map in Hanwoo

  • Lia, Y.;Lee, J.H.;Lee, Y.M.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.4
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    • pp.457-462
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    • 2011
  • The purpose of this study was to detect QTL for carcass quality on bovine chromosome (BTA) 6 using a high density SNP map in a Hanwoo population. The data set comprised 45 sires and their 427 Hanwoo steers that were born between spring of 2005 and fall of 2007. The steers that were used for progeny testing in the Hanwoo Improvement Center in Seosan, Korea, were genotyped with the 2,535SNPs on BTA6 that were embedded in the Illumina bovine SNP 50K chip. Four different linkage disequilibrium (LD) mapping models were applied to detect significant SNPs for carcass quality traits; the fixed model with a single marker, the random model with a single marker, the random model with haplotype effects using two adjacent markers, and the random model at hidden state. A total of twelve QTL were detected, for which four, one, three and four SNPs were detected on BTA6 under the respective models (p<0.001). Among the detected QTL, four, two, five and one QTL were associated with carcass weight, backfat thickness, longissimus dorsi muscle area, and marbling score, respectively (p<0.001). Our results suggest that the use of multiple LD mapping approaches may be beneficial in increasing power to detect QTL given a limited sample size and magnitude of QTL effect.

Genome wide association study for growth in Pakistani dromedary camels using genotyping-by-sequencing

  • Sajida Sabahat;Asif Nadeem;Rudiger Brauning;Peter C. Thomson;Mehar S. Khatkar
    • Animal Bioscience
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    • v.36 no.7
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    • pp.1010-1021
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    • 2023
  • Objective: Growth performance and growth-related traits have a crucial role in livestock due to their influence on productivity. This genome-wide association study (GWAS) in Pakistani dromedary camels was conducted to identify single nucleotide polymorphisms (SNPs) associated with growth at specific camel ages, and for selected SNPs, to investigate in detail how their effects change with increasing camel age. This is the first GWAS conducted on dromedary camels in this region. Methods: Two Pakistani breeds, Marecha and Lassi, were selected for this study. A genotyping-by-sequencing method was used, and a total of 65,644 SNPs were identified. For GWAS, weight records data with several body weight traits, namely, birthweight, weaning weight, and weights of camels at 1, 2, 4, and 6 years of age were analysed by using model-based growth curve analysis. Age-specific weight data were analysed with a linear mixed model that included fixed effects of SNP genotype as well as sex. Results: Based on the q-value method for false discovery control, for Marecha camels, five SNPs at q<0.01 and 96 at q<0.05 were significantly associated with the weight traits considered, while three (q<0.01) and seven (q<0.05) SNP associations were identified for Lassi camels. Several candidate genes harbouring these SNP were discovered. Conclusion: These results will help to better understand the genetic architecture of growth including how these genes are expressed at different phases of their life. This will serve to lay the foundations for applied breeding programs of camels by allowing the genetic selection of superior animals.

Genomic partitioning of growth traits using a high-density single nucleotide polymorphism array in Hanwoo (Korean cattle)

  • Park, Mi Na;Seo, Dongwon;Chung, Ki-Yong;Lee, Soo-Hyun;Chung, Yoon-Ji;Lee, Hyo-Jun;Lee, Jun-Heon;Park, Byoungho;Choi, Tae-Jeong;Lee, Seung-Hwan
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.10
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    • pp.1558-1565
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    • 2020
  • Objective: The objective of this study was to characterize the number of loci affecting growth traits and the distribution of single nucleotide polymorphism (SNP) effects on growth traits, and to understand the genetic architecture for growth traits in Hanwoo (Korean cattle) using genome-wide association study (GWAS), genomic partitioning, and hierarchical Bayesian mixture models. Methods: GWAS: A single-marker regression-based mixed model was used to test the association between SNPs and causal variants. A genotype relationship matrix was fitted as a random effect in this linear mixed model to correct the genetic structure of a sire family. Genomic restricted maximum likelihood and BayesR: A priori information included setting the fixed additive genetic variance to a pre-specified value; the first mixture component was set to zero, the second to 0.0001×σ2g, the third 0.001×σ2g, and the fourth to 0.01×σ2g. BayesR fixed a priori information was not more than 1% of the genetic variance for each of the SNPs affecting the mixed distribution. Results: The GWAS revealed common genomic regions of 2 Mb on bovine chromosome 14 (BTA14) and 3 had a moderate effect that may contain causal variants for body weight at 6, 12, 18, and 24 months. This genomic region explained approximately 10% of the variance against total additive genetic variance and body weight heritability at 12, 18, and 24 months. BayesR identified the exact genomic region containing causal SNPs on BTA14, 3, and 22. However, the genetic variance explained by each chromosome or SNP was estimated to be very small compared to the total additive genetic variance. Causal SNPs for growth trait on BTA14 explained only 0.04% to 0.5% of the genetic variance Conclusion: Segregating mutations have a moderate effect on BTA14, 3, and 19; many other loci with small effects on growth traits at different ages were also identified.

A Whole Genome Association Study on Meat Quality Traits Using High Density SNP Chips in a Cross between Korean Native Pig and Landrace

  • Lee, K.T.;Lee, Y.M.;Alam, M.;Choi, B.H.;Park, M.R.;Kim, K.S.;Kim, T.H.;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.11
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    • pp.1529-1539
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    • 2012
  • A whole genome association (WGA) study was performed to detect significant polymorphisms for meat quality traits in an $F_2$ cross population (N = 478) that were generated with Korean native pig sires and Landrace dams in National Livestock Research Institute, Songwhan, Korea. The animals were genotyped using Illumina porcine 60k SNP beadchips, in which a set of 46,865 SNPs were available for the WGA analyses on ten carcass quality traits; live weight, crude protein, crude lipids, crude ash, water holding capacity, drip loss, shear force, CIE L, CIE a and CIE b. Phenotypes were regressed on additive and dominance effects for each SNP using a simple linear regression model, after adjusting for sex, sire and slaughter stage as fixed effects. With the significant SNPs for each trait (p<0.001), a stepwise regression procedure was applied to determine the best set of SNPs with the additive and/or dominance effects. A total of 106 SNPs, or quantitative trait loci (QTL) were detected, and about 32 to 66% of the total phenotypic variation was explained by the significant SNPs for each trait. The QTL were identified in most porcine chromosomes (SSCs), in which majority of the QTL were detected in SSCs 1, 2, 12, 13, 14 and 16. Several QTL clusters were identified on SSCs 12, 16 and 17, and a cluster of QTL influencing crude protein, crude lipid, drip loss, shear force, CIE a and CIE b were located between 20 and 29 Mb of SSC12. A pleiotropic QTL for drip loss, CIE L and CIE b was also detected on SSC16. These QTL need to be validated in commercial pig populations for genetic improvement in meat quality via marker-assisted selection.