• Title/Summary/Keyword: QTL

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Replicated Association Study between Tuberculosis and CLCN6, DOK7, HLA-DRA in Korean

  • Kim, Sung-Soo;Park, Min;Park, Sangjung
    • Biomedical Science Letters
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    • v.26 no.3
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    • pp.238-243
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    • 2020
  • Tuberculosis is a global public health problem and manifests itself as a difference in the genetic susceptibility of the host, along with the properties of Mycobacterium tuberculosis (MTB). The single nucleotide polymorphisms (SNPs) and candidate genes proposed in the Genome-wide association study (GWAS) on tuberculosis in a recently published Chinese population were reported. In this study, we investigated whether the genetic polymorphism of candidate genes related to tuberculosis is reproduced when targeting Koreans. The CLCN6 (rs12404124, rs198391, rs535107), DOK7 (rs1203104, rs1203103) and HLA-DRA (rs1051336) gene polymorphisms showed statistically significant results. In addition, it was also found whether it acts as an expression quantitative trait loci (eQTL) that can influence gene expression. This study confirmed that the genetic polymorphism of the three genes (CLCN6, DOK7, HLA-DRA) affects the development of tuberculosis and will help to understand the genetic specificity of tuberculosis and the interaction between pathogens and hosts.

Genetic Variation in Growth and Body Dimensions of Jersey and Limousin Cross Cattle. 2. Post-Weaning Dry and Wet Season Performance

  • Afolayan, R.A.;Pitchford, W.S.;Weatherly, A.W.;Bottema, C.D.K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.10
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    • pp.1378-1385
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    • 2002
  • The importance of direct genetic, maternal, heterosis and epistatic effects were examined on post-weaning weight, height, length, girth, fat depth and muscle (ratio of stifle to hip width) with dry and wet season gains in these traits. The breeds used were two pure breeds (Jersey and Limousin), the Limousin${\times}$Jersey $F_1$, and two backcrosses ($F_1{\times}$Jersey dams and $F_1{\times}$Limousin dams). Direct genetic effects were large (p<0.001) for all traits except for length. Jersey maternal effects were large for weight, girth, fat depth and muscle in the post-weaning wet season gains which is an evidence of the impact of Jersey dam on progeny beyond weaning. There were large heterosis effects on fat depth and muscle relative to other traits. Epistatic effects were observed for post-weaning performance in weight, girth, fat depth and muscle. There are indications that there were different genetic effects for post-weaning compared to preweaning growth traits. Thus, it could be hypothesized from this study that different quantitative trait loci (QTL) affect early and late growth in Jersey and Limousin cross cattle breeds. The follow up work will examine the different chromosomal gene effects on pre- and post-weaning growth.

Application of genomics into rice breeding

  • Ando, Ikuo
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.13-13
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    • 2017
  • By the progress of genome sequencing, infrastructures for marker-assisted breeding (MAB) of rice came to be established. Fine mapping and gene isolation have been conducted using the breeding materials derived from natural variations and artificial mutants. Such genetic analysis by the genome-wide dense markers provided us the knowledge about the many genes controlling important traits. We identified several genes or quantitative trait loci (QTL) for heading date, blast resistance, eating quality, high-temperature stress tolerance, and so on. NILs of each gene controlling heading date contribute to elongate the rice harvest period. Determination of precise gene location of blast resistance gene pi21, allowed us to overcome linkage drag, co-introduction of undesirable eating quality. We could also breed the first practical rice cultivar in Japan with a brown planthopper resistance gene bph11 in the genetic back-ground of an elite cultivar. Discovery of major and minor QTLs for good eating quality allowed us to fine-tune of eating quality according to the rice planting area or usage of rice grain. Many rice cultivars have bred efficiently by MAB for several traits, or by marker-assisted backcross breeding through chromosome segment substitution lines (CSSLs) using genetically diverse accessions. We are also systematically supporting the crop breeding of other sectors by MAB or by providing resources such as CSSLs. It is possible to pyramid many genes for important traits by using MAB, but is still difficult to improve the yielding ability. We are performing a Genomic Selection (GS) for improvement of rice biomass and grain yield. We are also trying to apply the genome editing technology for high yield rice breeding.

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Effect of Single Nucleotide Polymorphism of Endothelial Differentiation G-Protein Coupled Receptor 1 (EDG1) Gene on Marbling Score in Hanwoo

  • Shin, Sung-Chul;Chung, Eui-Ryong
    • Food Science of Animal Resources
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    • v.32 no.6
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    • pp.776-782
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    • 2012
  • Marbling (intramuscular fat) is the most economically important meat quality trait in Hanwoo (Korean cattle). The endothelial differentiation G-protein coupled receptor 1 (EDG1) gene, involved in blood vessel formation, is located within the genomic region of a quantitative trait locus (QTL) for marbling on bovine chromosome 3. Thus, the EDG1 gene can be considered as a positional and functional candidate gene for meat quality in beef cattle. This study aimed to identify single nucleotide polymorphisms (SNPs) in the EDG1 gene and to evaluate their associations with carcass traits in Hanwoo population. We have sequenced a fragment of 5'-UTR of the EDG1 gene and identified one SNP. Genotyping of the g.166A>G SNP marker was carried out using PCR-RFLP analysis in 309 Hanwoo steers in order to evaluate their association with carcass traits. The g.166A>G SNP marker showed a significant effect on the marbling score. Animals with the GG genotype had higher marbling score compared with AA and AG genotypes (p<0.05). This SNP marker also showed a significant additive effects for the marbling score (p<0.05). These results suggest that the EDG1 gene can be used as a molecular marker for DNA marker-assisted selection in order to increase the levels of the marbling score in Hanwoo.

An AFLP-based Linkage Map of Japanese Red Pine (Pinus densiflora) Using Haploid DNA Samples of Megagametophytes from a Single Maternal Tree

  • Kim, Yong-Yul;Choi, Hyung-Soon;Kang, Bum-Yong
    • Molecules and Cells
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    • v.20 no.2
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    • pp.201-209
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    • 2005
  • We have constructed an AFLP-based linkage map of Japanese red pine (Pinus densiflora Siebold et Zucc.) using haploid DNA samples of 96 megagametophytes from a single maternal tree, selection clone Kyungbuk 4. Twenty-eight primer pairs generated a total of 5,780 AFLP fragments. Five hundreds and thirteen fragments were verified as genetic markers with two alleles by their Mendelian segregation. At the linkage criteria LOD 4.0 and maximum recombination fraction 0.25(${\theta}$), a total of 152 markers constituted 25 framework maps for 19 major linkage groups. The maps spanned a total length of 2,341 cM with an average framework marker spacing of 18.4 cM. The estimated genome size was 2,662 cM. With an assumption of equal marker density, 82.2% of the estimated genome would be within 10 cM of one of the 230 linked markers, and 68.1% would be within 10 cM of one of the 152 framework markers. We evaluated map completeness in terms of LOD value, marker density, genome length, and map coverage. The resulting map will provide crucial information for future genomic studies of the Japanese red pine, in particular for QTL mapping of economically important breeding target traits.

Phenotypic and Marker Assisted Evaluation of Korean Wheat Cultivars

  • Jung, Yeonju;Park, Chul Soo;Jeung, Ji-Ung;Kang, Chon-Sik;Lee, Gi-An;Choi, Yu-Mi;Lee, Jung-Ro;Lee, Myung-Chul;Kim, Chung-Kon;Seo, Yong Weon
    • Korean Journal of Breeding Science
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    • v.43 no.4
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    • pp.273-281
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    • 2011
  • Fusarium head blight (FHB), also known as scab, caused mainly by Fusarium graminearum is a devastating disease of wheat in regions that are warm and humid during flowering. In addition to significant yield and quality losses, the mycotoxin deoxynivalenol produced by the pathogen in infected wheat kernels is a serious problem for food and feed safety. Twenty- three Korean cultivars and "Sumai 3", which is a FHB-resistant Chinese cultivar were tested for Type I, Type II resistances of FHB. Three cultivars were identified as resistant in Type I assessment, and two cultivars were resistant in Type II assessment. Genetic variation and relationship among the cultivars were evaluated on the basis of 11 Simple Sequence Repeat (SSR) and 29 Sequence Tagged Site (STS) markers that were linked to FHB resistance Quantitative Trait Loci (QTL) on chromosome 3BS. One SSR and 7 STS markers detected polymorphisms. Especially, using a STS marker (XSTS3B-57), 32.4% of the variation for Type II FHB resistance could be explained. Genetic relationship among Korean wheat cultivars was generally consistent with their released year. These markers on chromosome 3BS have the potential for accelerating the development of Korean wheat cultivars with improved Fusarium head blight resistance through the use of marker-assisted selection.

Mapping of Quantitative Trait Loci for Yield and Grade Related Traits in Peanut (Arachis hypogaea L.) Using High-Resolution SNP Markers

  • Liang, Yuya;Baring, Michael R.;Septiningsih, Endang M.
    • Plant Breeding and Biotechnology
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    • v.6 no.4
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    • pp.454-462
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    • 2018
  • Yield and grade are the key factors that affect production value of peanut. The objective of this study was to identify QTLs for pod yield, hundred-seed weight, and total sound mature kernel (TSMK). A total of 90 recombinant inbred lines, derived from Tamrun OL07 and a breeding line Tx964117, were used as a mapping population and planted in Brownfield and Stephenville, Texas. A genetic map was developed using 1,211 SNP markers based on double digest restriction-site associated DNA sequencing (ddRAD-seq). A total of 10 QTLs were identified above the permutation threshold, three for yield, three for hundred-seed weight and four for TSMK, with LOD score values of 3.7 - 6.9 and phenotypic variance explained of 12.2% - 35.9%. Among those, there were several QTLs that were detected in more than one field experiment. The commonly detected QTLs in this study may be used as potential targets for future breeding program to incorporate yield and grade related traits through molecular breeding.

Identification of Quantitative Trait Loci for Fatty Acid Content in Brown Rice (Oryza sativa L.)

  • Jang, Su;Chin, Joong Hyoun
    • Plant Breeding and Biotechnology
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    • v.6 no.4
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    • pp.444-453
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    • 2018
  • The rice bran oil contained in brown rice is composed of highly valued ingredient. Improving the content of unsaturated fatty acids in rice seed, such as oleic acid, linoleic acid, and ${\alpha}$-linolenic acid, would provide more benefit to human health. Fatty acid content is quantitative trait controlled by multiple genes. We have utilized high-density SNP data from highly advanced breeding populations to identify QTLs for fatty acid contents in brown rice. Here, we identified 51 major QTLs (M-QTLs) and 25 epistatic QTLs (EpQTLs) related to eleven fatty acid contents. Eight and four M-QTLs were pleiotropically associated with the content of different fatty acids in MT-RILs and DT-RILs, respectively. Total effect of M-QTLs for palmitic acid (16:0), oleic acid (18:1), and linoleic acid (18:2), could explain phenotypic variations of 36.7%, 63.7%, and 41% in MT-RILs, respectively. Alpha-linolenic acid which is important for a human's health could be explained phenotypic variation of 15.7% by six M-QTLs. These QTLs identified in this study can be used to improve nutritious content in rice breeding programs.

Development and Validation of a Perfect KASP Marker for Fusarium Head Blight Resistance Gene Fhb1 in Wheat

  • Singh, Lovepreet;Anderson, James A;Chen, Jianli;Gill, Bikram S;Tiwari, Vijay K;Rawat, Nidhi
    • The Plant Pathology Journal
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    • v.35 no.3
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    • pp.200-207
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    • 2019
  • Fusarium head blight (FHB) is a devastating wheat disease with a significant economic impact. Fhb1 is the most important large effect and stable QTL for FHB resistance. A pore-forming toxin-like (PFT) gene was recently identified as an underlying gene for Fhb1 resistance. In this study, we developed and validated a PFT-based Kompetitive allele specific PCR (KASP) marker for Fhb1. The KASP marker, PFT_KASP, was used to screen 298 diverse wheat breeding lines and cultivars. The KASP clustering results were compared with gelbased gene specific markers and the widely used linked STS marker, UMN10. Eight disagreements were found between PFT_KASP and UMN10 assays among the tested lines. Based on the genotyping and sequencing of genes in the Fhb1 region, these genotypes were found to be common with a previously characterized susceptible haplotype. Therefore, our results indicate that PFT_KASP is a perfect diagnostic marker for Fhb1 and would be a valuable tool for introgression and pyramiding of FHB resistance in wheat cultivars.

A bioinformatic approach to identify pathogenic variants for Stevens-Johnson syndrome

  • Muhammad Ma'ruf;Justitia Cahyani Fadli;Muhammad Reza Mahendra;Lalu Muhammad Irham;Nanik Sulistyani;Wirawan Adikusuma;Rockie Chong;Abdi Wira Septama
    • Genomics & Informatics
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    • v.21 no.2
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    • pp.26.1-26.9
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    • 2023
  • Stevens-Johnson syndrome (SJS) produces a severe hypersensitivity reaction caused by Herpes simplex virus or mycoplasma infection, vaccination, systemic disease, or other agents. Several studies have investigated the genetic susceptibility involved in SJS. To provide further genetic insights into the pathogenesis of SJS, this study prioritized high-impact, SJS-associated pathogenic variants through integrating bioinformatic and population genetic data. First, we identified SJS-associated single nucleotide polymorphisms from the genome-wide association studies catalog, followed by genome annotation with HaploReg and variant validation with Ensembl. Subsequently, expression quantitative trait locus (eQTL) from GTEx identified human genetic variants with differential gene expression across human tissues. Our results indicate that two variants, namely rs2074494 and rs5010528, which are encoded by the HLA-C (human leukocyte antigen C) gene, were found to be differentially expressed in skin. The allele frequencies for rs2074494 and rs5010528 also appear to significantly differ across continents. We highlight the utility of these population-specific HLA-C genetic variants for genetic association studies, and aid in early prognosis and disease treatment of SJS.