• 제목/요약/키워드: quantitative trait loci (QTLs)

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한국 재래닭 경제형질 관련 QTL 탐색 및 표지유전자 개발

  • 이학교;공홍식;이승수;정호영;조창연;상병돈;최철환;김학규
    • 한국가금학회:학술대회논문집
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    • 한국가금학회 2003년도 제20차 정기총회 및 학술발표회
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    • pp.135-137
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    • 2003
  • 본 연구는 한국 재래닭에 대한 유전적 특성에 근거한 표지유전자 및 재래닭 특이유전자와 경제형질간의 연관성을 분석하고자 실시하였다. 연구의 수행을 위해 DNA 초위성체에 의한 경제형질 연관 QTL 지도를 작성하는 것을 목표로 하며, 실험재료로서는 현재 국내의 재래닭을 계통화하여 개량하고 있는 집단으로부터 QTL mapping을 위한 기준집단을 조성하여 이들로부터 경제형질을 조사하고 특정 경제형질 연관 QTL을 탐색하기 위한 연구 설계 및 기준집단을 조성하였다.

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Single-Cell Genomics for Investigating Pathogenesis of Inflammatory Diseases

  • Seyoung Jung;Jeong Seok Lee
    • Molecules and Cells
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    • 제46권2호
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    • pp.120-129
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    • 2023
  • Recent technical advances have enabled unbiased transcriptomic and epigenetic analysis of each cell, known as "single-cell analysis". Single-cell analysis has a variety of technical approaches to investigate the state of each cell, including mRNA levels (transcriptome), the immune repertoire (immune repertoire analysis), cell surface proteins (surface proteome analysis), chromatin accessibility (epigenome), and accordance with genome variants (eQTLs; expression quantitative trait loci). As an effective tool for investigating robust immune responses in coronavirus disease 2019 (COVID-19), many researchers performed single-cell analysis to capture the diverse, unbiased immune cell activation and differentiation. Despite challenges elucidating the complicated immune microenvironments of chronic inflammatory diseases using existing experimental methods, it is now possible to capture the simultaneous immune features of different cell types across inflamed tissues using various single-cell tools. In this review, we introduce patient-based and experimental mouse model research utilizing single-cell analyses in the field of chronic inflammatory diseases, as well as multi-organ atlas targeting immune cells.

돼지 7번 염색체에서 육색 연관 QTL 확인 (Identification of Quantitative Trait Loci(QTL) for Meat Color Trait on Chromosome 7 in Pig)

  • 최봉환;이혜영;김태헌;홍기창;정일정
    • Journal of Animal Science and Technology
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    • 제46권4호
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    • pp.525-536
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    • 2004
  • 본 연구는 돼지의 염색체 7번에 존재하는 주요 경제형질에 관여하는 양적형질 유전자좌위(Quantitative trait loci; QTL)를 밝히기 위해 초성위체 표지인자를 이용하여 유전자지도(연관지도) 작성을 수행하였다. 기준집단의 조성은 이형접합성이 높은 기준집단을 조성하기 위하여 유전적 특성이 현격히 다른 우리나라의 재래돼지와 Landrace를 전형매 교배하여 생산된 $F_2$ 183두를 사용하였으며 기준집단에 대해 도축 24시간 후의 pH, 육색, 육즙손실량, 전단력, 가열감량, 조지방, 조회분, 수분, 조단백질 등 육질형질을 조사 및 분석하였다. 염색체 7번의 연관지도는 총 23개의 표지인자로 작성되었으며 암수평균 연관지도 길이는 154.6 cM 이었으며 수컷과 암컷의 연관지도 길이는 각각 169.2 cM과 141.4 cM로 수컷의 연관지도 길이가 암컷의 것보다 27.8 cM 더 길었다. 표지인자간의 최소간격은 SW175와 S0066 표지인자사이로 1.6 cM이었고, 최대간격은 SW2002와 SWR773표지인자사이로서 15.9 cM이었으며 평균간격은 7.02 cM이었다. 본 연구에서는 9개의 육질관련 형질 중 육색과 연관된 2개의 QTL이 확인되었는데 적색도(CIE-a)와 연관된 QTL은 45 cM 영역에서 1% 수준의 통계적 유의성을 나타내었고(Fig. 2), 이 영역에서 불과 3${\sim}$4 cM 떨어진 위치에서 황색도(CIE-b)와 연관된 QTL이 확인되었다. 향후에 본 연구에서 탐색된 QTL 영역에 대하여 고밀도의 유전자 지도 작성을 통하여 특정 형질과 연관된 부분을 계속해서 추적해 나간다면 육색형질을 조절하는 주유전자의 클로닝 및 특성 구명이 가능할 것으로 사료되며 궁극적으로는 돼지의 개량에 효율적으로 활용할 수 있는 표지인자(MAS)의 개발 등도 가능 할 것으로 사료된다.

저온에서 벼의 발아율 및 발아속도 관련 양적형질 유전자좌(QTL) 분석 (QTL Analysis of Germination Rate and Germination Coefficient of Velocity under Low Temperature in Rice)

  • 김진희;모영준;하수경;정지웅;정종민
    • 한국작물학회지
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    • 제66권1호
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    • pp.8-17
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    • 2021
  • 자포니카 벼의 저온 스트레스 내성 증진을 위하여, RIL 계통을 이용하여 저온 스트레스 내성 QTL을 탐색하였다. 이를 통하여 (1) 5, 9번 염색체에서 저온발아에 관련한 '기호벼' 유래 QTL, qLTG5와 qLTG9를 확인하였으며, 7, 9번 염색체에서 저온 발아속도에 관련한 '밀양23호' 및 '기호벼' 유래 QTL, qOGCV7, qOGCV9를 확인하였다. (2) Duncan 검정결과, 그룹VII [qLTG5+qLTG9 (qOGCV9)], 그룹VIII [qLTG5+qOGCV7+qLTG9 (qOGCV9)]의 계통들이 저온 스트레스에 내성이 있는 것으로 확인 되었다. (3) 최근 발표된 RIL 집단 담수내성 계통과 비교한 결과, 저온 스트레스에도 내성이 있으면서 담수발아에도 내성이 있는 것으로 확인된 총 2개의 유망 유전자원을 선발하였다. 본 연구의 결과를 통해 저온 및 혐기 관련 QTL의 집적은 벼의 저온에서의 발아 및 초기 입모율을 높여 저온스트레스 내성 개선에 도움이 되는 것으로 판단 되었으며, 선발된 유망 계통은 향후 직파재배 품종 육성에 유용한 유전자원으로 활용되어 직파재배의 안정성 증대에 기여할 것으로 기대된다.

작물 육종에서 분자유전자 지도의 이용 (Genome Mapping Technology And Its Application In Plant Breeding)

  • 은무영
    • 한국식물학회:학술대회논문집
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    • 한국식물학회 1995년도 제9회 식물생명공학 심포지움 식물육종과 분자생물학의 만남 The 9th Plant Biotechnology Symposium -Breeding and Molecular Biology-
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    • pp.57-86
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    • 1995
  • Molecular mapping of plant genomes has progressed rapidly since Bostein et al.(1980) introduced the idea of constructing linkage maps of human genome based on restriction fragment length polymorphism (RFLP) markers. In recent years, the development of protein and DNA markers has stimulated interest for the new approaches to plant improvement. While classical maps based on morphological mutant markers have provided important insights into the plant genetics and cytology, the molecular maps based on molecular markers have a number of inherent advatages over classical genetic maps for the applications in genetic studies and/or breeding schemes. Isozymes and DNA markers are numerous, discrete, non-deleterious, codominant, and almost entirely free of environmental and epistatic interactions. For these reasons, they are widely used in constructing detailed linkage maps in a number of plant species. Plant breeders improve crops by selecting plants with desirable phenotypes. However a plant's phenotyes is often under genetic control, positioning at different "quantitative trait loci" (QTLs) together with environmental effects. Molecular maps provide a possible way to determine the effect of the individual gene that combines to produce a quantitative trait because the segregation of a large number of markers can be followed in a single genetic cross. Using market-assisted selection, plants that contain several favorable genes for the trait and do not contain unfavourable segments can be obtained during early breeding processes. Providing molecular maps are available, valuable data relevant to the taxonomic relationships and chromosome evolution can be accumulated by comparative mapping and also the structural relationships between linkage map and physical map can be identified by cDNA sequencing. After constructing high density maps, it will be possible to clone genes, whose products are unknown, such as semidwarf and disease resistance genes. However, much attention has to be paid to level-up the basic knowledge of genetics, physiology, biochemistry, plant pathology, entomology, microbiology, and so on. It must also be kept in mind that scientists in various fields will have to make another take off by intensive cooperation together for early integration and utilization of these newly emerging high-techs in practical breeding. breeding.

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쌀의 호응집성에 대한 QTLs 분석 (Analysis of Quantitative Trait Loci (QTL) Associated with the Gel Consistency in Rice)

  • 김태헌;손재근;김경민
    • 한국육종학회지
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    • 제41권4호
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    • pp.474-481
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    • 2009
  • 본 연구에서는 자포니카형인 '낙동'과 통일형인 '삼강' 조합의 DH 집단을 이용하여 식미를 결정하는 특성 중 하나인 호응집성과 미립의 이화학적 특성인 천립중, 장폭비, 아밀로즈 함량, 단백질 함량, 지질 함량 및 전분 함량 간 상관관계를 검정하였다. 또한 호응집성의 QTL을 분석하고, 각 QTL에 속하는 DNA marker와 DH 집단의 호응집성 및 품종별 호응집성 간 관계를 분석하였다. '삼강/낙동' DH 집단의 호응집성 범위는 35~94 mm로 비교적 넓은 범위의 변이를 나타내었고 양친의 범위를 벗어나는 초월분리현상을 나타내었다. '삼강/낙동' DH 집단에서 호응집성은 미립의 이화학적특성 중 아밀로즈 함량과는 연으로 분류된 계통에서만 부의 유의성 있는 상관관계를 나타내었고, 지질 함량과는 중 및 전체 계통에서는 부의 상관관계를 나타내었으나 연으로 분류된 계통과는 정의 상관관계를 나타내었다. 단백질 함량과는 연으로 분류된 계통과는 정의 상관관계, 중과 전체 계통에서는 부의 상관관계를 나타내었으며, 전분 함량에서는 연으로 분류된 계통에서만 호응집성과 부의 상관관계를 나타내었다. 호응집성과 연관된 QTL은 4번(qgc4)과 11번(qgc11) 염색체에서 탐색되었으며 LOD score는 각각 3.1, 2.9를 나타내었고 두 QTL의 설명 가능한 표현형 변이는 23%로 비교적 크게 작용하고 있었다. '삼강/낙동' DH 집단에서 gel의 길이가 긴 상위 10개 계통과 짧은 하위 10개 계통을 대상으로 QTL 연관 DNA marker와 호응집성간의 관계분석에서 S4026과 RM287은 gel의 길이와 연관성이 높은 것으로 나타났다.

Identification of Putative Regulatory Alterations Leading to Changes in Gene Expression in Chronic Obstructive Pulmonary Disease

  • Kim, Dong-Yeop;Kim, Woo Jin;Kim, Jung-Hyun;Hong, Seok-Ho;Choi, Sun Shim
    • Molecules and Cells
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    • 제42권4호
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    • pp.333-344
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    • 2019
  • Various genetic and environmental factors are known to be associated with chronic obstructive pulmonary disease (COPD). We identified COPD-related differentially expressed genes (DEGs) using 189 samples accompanying either adenocarcinoma (AC) or squamous cell carcinoma (SC), comprising 91 normal and 98 COPD samples. DEGs were obtained from the intersection of two DEG sets separately identified for AC and SC to exclude the influence of different cancer backgrounds co-occurring with COPD. We also measured patient samples named group 'I', which were unable to be determined as normal or COPD based on alterations in gene expression. The Gene Ontology (GO) analysis revealed significant alterations in the expression of genes categorized with the 'cell adhesion', 'inflammatory response', and 'mitochondrial functions', i.e., well-known functions related to COPD, in samples from patients with COPD. Multi-omics data were subsequently integrated to decipher the upstream regulatory changes linked to the gene expression alterations in COPD. COPD-associated expression quantitative trait loci (eQTLs) were located at the upstream regulatory regions of 96 DEGs. Additionally, 45 previously identified COPD-related miRNAs were predicted to target 66 of the DEGs. The eQTLs and miRNAs might affect the expression of 'respiratory electron transport chain' genes and 'cell proliferation' genes, respectively, while both eQTLs and miRNAs might affect the expression of 'apoptosis' genes. We think that our present study will contribute to our understanding of the molecular etiology of COPD accompanying lung cancer.

Environmental Change Uncovers Differences in Polygenic Effect of Chromosomes from a Natural Population of Drosophila melanogaster

  • Jeung, Min-Gull;Thompson, James-N.Jr;Lee, Chung-Choo
    • Animal cells and systems
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    • 제1권4호
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    • pp.609-617
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    • 1997
  • Polygenic variation of sternopleural bristle number was investigated at the whole chromosome level in a natural population of Drosophila melanogasfer. Fifty pairs of second and third chromosomes were analyzed at $25^\circ{C}$. Since environmental factors such as temperature influence polygenic expression of quantitative traits, whole chromosomal effects of 28 pairs from the larger original sample were measured under cycling temperature, a $10-30\circ{C}$ cycle in 24 hours, to reveal any polygenic alleles whose effects might be masked under the constant temperature. While third chromosomes typically showed a larger contribution to polygenic variation in both environments, second chromosomes showed greater sensitivity to environmental changes. Cluster analyses of second and third chromosomes produced a limited number of clusters. Such a small number of cluster's implies that there may be a small number of genes, or quantitative trait loci (QTLs), having large effects on phenotypic variation. The genetic structure assessed under constant temperature, however, did not show any correlation with the structure under cycling temperature. The discrepancy could be caused by independent response of each polygenic allele to temperature changes. Thus, polygenic structure in natural populations should be thought of as a temporally changing profile of interactions between gene and ever-changing environment.

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Genetic Insights into Domestication Loci Associated with Awn Development in Rice

  • Ngoc Ha Luong;Sangshetty G. Balkunde;Kyu-Chan Shim;Cheryl Adeva;Hyun-Sook Lee;Hyun-Jung Kim;Sang-Nag Ahn
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.33-33
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    • 2022
  • Rice (Oryza sativa L.) is a widely studied domesticated model plant. Seed awning is an unfavorable trait during rice harvesting and processing. Hence, awn was one of the target characters selected during domestication. However, the genetic mechanisms underlying awn development in rice are not well understood. In this study, we analyzed the genes for awn development using a mapping population derived from a cross between the Korean indica cultivar 'Milyang23' and NIL4/9 (derived from a cross between 'Hwaseong' and O. minuta). Two quantitative trait loci (QTLs), qAwn4 and qAwn9 were mapped on chromosome 4 and 9, respectively, increased awn length in an additive manner. Through comparative sequencing analyses parental lines, LABA1 was determined as the causal gene underlying qAwn4. qAwn9 was mapped to a 199-kb physical region between markers RM24663 and RM24679. Within this interval, 27 annotated genes were identified, and five genes, including a basic leucine zipper transcription factor 76 (OsbZIP76), were considered candidate genes for qAwn9 based on their functional annotations and sequence variations. Haplotype analysis using the candidate genes revealed tropical japonica specific sequence variants in the qAwn9 region, which partly explains the non-detection of qAwn9 in previous studies that used progenies from interspecific crosses. This provides further evidence that OsbZIP76 is possibly a causal gene for qAwn9. The O. minuta qAwn9 allele was identified as a major QTL associated with awn development in rice, providing an important molecular target for basic genetic research and domestication studies. Our results lay the foundation for further cloning of the awn gene underlying qAwn9.

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QTLs Identification and Confiirmation of Field Resistance to Leaf Blast in Temperate japonica Rice (Oryza sativa L.)

  • Cho, Young-Chan;Kwon, Soon-Wook;Suh, Jung-Pil;Kim, Jeong-Ju;Lee, Jeom-Ho;Roh, Jae-Hwan;Oh, Myung-Kyu;Kim, Myeong-Ki;Ahn, Sang-Nag;Koh, Hee-Jong;Yang, Sae-Jun;Kim, Yeon-Gyu
    • Journal of Crop Science and Biotechnology
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    • 제11권4호
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    • pp.269-276
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    • 2008
  • Field resistance is defined as the resistance that allows effective control of a parasite under natural field condition and is durable when exposed to new races of that parasite. To identify the genes for field resistance to rice blast, quantitative trait loci (QTLs) conferring the resistance for races and blast nursery screening in japonica rice cultivars were detected and mapped using SSR markers. QTL analysis was carried out in 190 RILs population from the cross between Suweon365 (moderately resistant) and Chucheong (highly susceptible). Twelve QTLs against nine blast races inoculated were detected on chromosomes 1, 2, 4, 6, 7, 11 and 12. They explained from 5.1% to 34.9% of total phenotypic variation. Eight QTLs against blast nursery screening in four regions for three years were detected on chromosomes 1, 2, 4, 11 and 12. The phenotypic variation explained by each QTL ranged from 4.3% to 37.7%. Three chromosome segment substitution lines (CSSLs) of $BC_2F_6$ by backcross method were developed to transfer the QTLs into the susceptible cultivar Chucheong as a recurrent parent. A CSSL4-1 containing two QTLs qLB6.2 and qLB7 against blast races showed to the reaction of 6 to 7 at blast nursery in two regions for two years. The CSSL4-2 and CSSL93 containing QTLs, qLB11.2 and qLB12.1 of the resistance against leaf blast in blast nursery screening, respectively, had enhanced the resistance for blast nursery screening across two regions and in two years.

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