• 제목/요약/키워드: epistasis

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QTL Analysis of Protein Content in Double-haploid Lines of Rice

  • Qin, Yang;Kim, Suk-Man;Sohn, Jae-Keun
    • 한국작물학회지
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    • 제54권2호
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    • pp.165-171
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    • 2009
  • The objective of this study was to characterize the main-effect QTLs, epistatic QTLs and QTL-by-environment interactions (QE), which are involved in the control of protein content. A population of 120 doubled haploid (DH) lines derived from a cross between 'Samgang' and 'Nagdong', was planted and determined for protein content over three years. Based on the population and a genetic linkage map of 172 markers, QTL analysis was conducted by WinQTLcart 2.5 and QTLMAPPER. Three main-effect QTLs affecting protein content of brown rice were detected from 2004 to 2006 on chromosomes 1 and 11. The qPC11.2 was repeatedly detected across two years. Seven pairs of epistatic loci were identified on eight chromosomes for protein content and collectively explained 39.15% of phenotype variation. These results suggest that epistatic effects might be an even more important component of the genetic basis for protein content and that the segregation of the DH lines for protein content could be largely explained by a few main-effect QTLs and many epistatic loci.

Genetical and Physiological Mechanisms of Adult Diapause in Insects

  • Kim, Yong-Gyun
    • 한국응용곤충학회지
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    • 제34권1호
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    • pp.20-32
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    • 1995
  • Adult diapause in insects is characterized by suppression of reproductive development. It is induced by environmental cues such as photoperiod, temperature, food availability, and other conditions Diapause-inducing environment is recognized and analyzed by the brain of the insects. The interpreted information is conveyed via endocrine system to target tissues such as ovaries, fat body, and other tissues. From this signal hierarchy of a brain-endocrine-target tissue axis, several factors are involved to express a diapause trait in a quantitative mode, even though the insects show a binomial phenotye between being in diapause or not. Recent works estimated that the number of the factors is relatively small by a series of crossing trials between high and low diapause lines. Heritability of the diapause is quite high (ca. 70%) in some species. Epistasis, sex-linkage, pleiotropism, and other nongenetic components also affect diapause inheritance. Most physiological studies have been focused on control mechanisms of the juvenile hormone (JH) synthesis in corpora allata (CA) because JH level in hemolymph of teneral adults is critical to decide a later developmental mode. Allatostatin, an antagonizer of JH synthesis, has been believed to be a potent brain message to CA for adult diapause induction.

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Genetic Analysis of Morphological Traits of Rice Grain and Their Inter-relationships

  • Chang, Jae-Ki;Yeo, Un-Sang;Oh, Byong-Geun;Lim, Sang-Jong;Yang, Sae-Jun;Kim, Soon-Chul;Moon, Huhn-Pal;Sohn, Jae-Keun
    • 한국작물학회지
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    • 제47권1호
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    • pp.36-41
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    • 2002
  • Two rice varieties, 'Oochikara' with large grain and 'Hwayeongbyeo' and their progenies (F$_1$, F$_2$, B$_1$ and B$_2$) were tested to understand gene action of morphological traits of rice grain and their relationships. The evaluated traits were 1,000-grain weight, grain length, width, thickness, length-width ratio and chalkiness of brown rice. Correlation between grain weight and chalkiness was highly significant in the all progenies, and grain length were not associated with width and thickness in an F$_2$ population. Scaling test and jonit scaling test revealed that inheritance of grain traits were fitted to additive-dominance model without epistasis. Additive effects for the traits were much greater than the dominance effects.

상수각 형질의 유전력 (Heritabilities of Some Characters of Mulberry Trees)

  • 장권열;한경수;민병렬
    • 한국잠사곤충학회지
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    • 제10권
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    • pp.41-43
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    • 1969
  • 상수각형질의 유전력을 알고자 우리나라 상수주요품종인 개량서반, 일지뢰, 노상, 수원상호의 4개품종을 재료로 유전력을 추정한 바 그 결과를 요약하면 다음과 같다. 1. 상수형질중 절간수의 유전력은 96.95로 제일 높고 주당지수의 유전력은 49.48로서 제일 낮았다. 2. 지조장, 지조직경, 지총중, 고지조중, 신소엽중, 그리고 정엽중의 유전력은 66-69의 값으로 절간수와 주당지수의 값의 중간치를 보였다. 이상의 결과로 상수의 형질중 절간수는 환경에 의한 변동이 적고 주당지수는 변동이 심하며 기타형질은 이들의 중간정도임을 알 수 있었다.

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Identification and Characterization of Calcineurin Targets in Cryptococcus neoformans

  • Park, Hee-Soo;Heitman, Joseph;Cardenas, Maria E.
    • 한국균학회소식:학술대회논문집
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    • 한국균학회 2016년도 춘계학술대회 및 임시총회
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    • pp.17-17
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    • 2016
  • Calcineurin governs stress survival, sexual differentiation, and virulence of the human fungal pathogen Cryptococcus neoformans. Herein, we identified and characterized calcineurin substrates in C. neoformans by employing phosphoproteomic $TiO_2$ enrichment and quantitative mass spectrometry. The identified targets include the zinc finger transcription factor Crz1 and proteins whose functions are linked to P-bodies/stress granules (PBs/SGs) and mRNA translation and decay, such as Pbp1 and Puf4. We show that Crz1 is a bona fide calcineurin substrate, and localization and transcriptional activity of Crz1 are controlled by calcineurin. Several of the calcineurin targets localized to PBs/SGs, including Puf4 and Pbp1, and are required for survival at high temperature and for virulence. Genetic epistasis analysis revealed that Crz1 and the novel targets Lhp1, Puf4, and Pbp1 function in a branched calcineurin pathway that orchestrates stress survival and virulence. These findings propose that calcineurin controls thermal stress and virulence at the transcriptional level via Crz1 and post-transcriptionally by regulating target factors involved in mRNA metabolism.

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Aspergillus nidulans의 자외선 감수성, uvs 돌연변이주들의 epistatic 연관성 및 성질에 대하여 (Analysis of epistatic interactions and properties of UV-sensitive, uvs mutants of Aspergillus nidulans)

  • 채순기
    • 자연과학논문집
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    • 제11권1호
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    • pp.45-54
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    • 1999
  • 4-NQO에 대한 감수성을 이용한 A.nidulans uvs 유전자들의 epistatic grouping은 자외선 및 MMS의 감수성을 이용한 grouping과 동일한 결과를 보였다. 한편, MMS에 대한 감수성을 기준으로 분류한 epistasis group에서 uvsA는 UvsF group 유전자인 uvsF 및 uvsH와 synergistic interaction을 보였으며, uvsA;uvsB 및 uvsA;uvsC 이배체는 uvsB, uvsC의 반수체와 동일한 감수성을 나타내었다. Germination한 뒤 4시간 후의 자외선 감수성을 기준으로 한 uvsI의 epistatic grouping은 conidia 상태에서 자외선을 쬐어 조사한 grouping과 유사하여, uvsH, uvsC, uvsB와 synergistic interaction을 보였다. 하지만, quiescent conidia 상태에서의 additive effect를 보인 uvsI와 uvsF 돌연변이체는 4h germination 후에는 epistatic interaction을 나타내었다. uvsI 돌연변이체의 Intergenic-intragenic recombination frequency는 야생주와 유사하였다.

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Identification of QTLs Associated with Physiological Nitrogen Use Efficiency in Rice

  • Cho, Young-Il;Jiang, Wenzhu;Chin, Joong-Hyoun;Piao, Zhongze;Cho, Yong-Gu;McCouch, Susan R.;Koh, Hee-Jong
    • Molecules and Cells
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    • 제23권1호
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    • pp.72-79
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    • 2007
  • Demand for low-input sustainable crop cultivation is increasing to meet the need for environment-friendly agriculture. Consequently, developing genotypes with high nutrient use efficiency is one of the major objectives of crop breeding programs. This study was conducted to identify QTLs for traits associated with physiological nitrogen use efficiency (PNUE). A recombinant inbred population (DT-RILs) between Dasanbyeo (a tongil type rice, derived from an indica ${\times}$ japonica cross and similar to indica in its genetic make-up) and TR22183 (a Chinese japonica variety) consisting of 166 $F_8$ lines was developed and used for mapping. A frame map of 1,409 cM containing 113 SSR and 103 STS markers with an average interval of 6.5 cM between adjacent marker loci was constructed using the DT-RILs. The RILs were cultivated in ordinary-N ($N-P_2O_5-K_2O=100-80-80kg/ha$) and low-N ($N-P_2O_5-K_2O=50-80-80kg/ha$) (100 kg/ha) conditions. PNUE was positively correlated with the harvest index and grain yield in both conditions. Twenty single QTLs (S-QTLs) and 58 pairs of epistatic loci (E-QTLs) were identified for the nitrogen concentration of grain, nitrogen concentration of straw, nitrogen content of shoot, harvest index, grain yield, straw yield and PNUE in both conditions. The phenotypic variance explained by these S-QTLs and E-QTLs ranged from 11.1 to 44.3% and from 16.0% to 63.6%, respectively. The total phenotypic variance explained by all the QTLs for each trait ranged from 35.8% to 71.3%, showing that the expression of PNUE and related characters depends signify- cantly upon genetic factors. Both S-QTLs and E-QTLs may be useful for marker-assisted selection (MAS) to develop higher PNUE genotypes.

Network Graph Analysis of Gene-Gene Interactions in Genome-Wide Association Study Data

  • Lee, Sungyoung;Kwon, Min-Seok;Park, Taesung
    • Genomics & Informatics
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    • 제10권4호
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    • pp.256-262
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    • 2012
  • Most common complex traits, such as obesity, hypertension, diabetes, and cancers, are known to be associated with multiple genes, environmental factors, and their epistasis. Recently, the development of advanced genotyping technologies has allowed us to perform genome-wide association studies (GWASs). For detecting the effects of multiple genes on complex traits, many approaches have been proposed for GWASs. Multifactor dimensionality reduction (MDR) is one of the powerful and efficient methods for detecting high-order gene-gene ($G{\times}G$) interactions. However, the biological interpretation of $G{\times}G$ interactions identified by MDR analysis is not easy. In order to aid the interpretation of MDR results, we propose a network graph analysis to elucidate the meaning of identified $G{\times}G$ interactions. The proposed network graph analysis consists of three steps. The first step is for performing $G{\times}G$ interaction analysis using MDR analysis. The second step is to draw the network graph using the MDR result. The third step is to provide biological evidence of the identified $G{\times}G$ interaction using external biological databases. The proposed method was applied to Korean Association Resource (KARE) data, containing 8838 individuals with 327,632 single-nucleotide polymorphisms, in order to perform $G{\times}G$ interaction analysis of body mass index (BMI). Our network graph analysis successfully showed that many identified $G{\times}G$ interactions have known biological evidence related to BMI. We expect that our network graph analysis will be helpful to interpret the biological meaning of $G{\times}G$ interactions.

Understanding Epistatic Interactions between Genes Targeted by Non-coding Regulatory Elements in Complex Diseases

  • Sung, Min Kyung;Bang, Hyoeun;Choi, Jung Kyoon
    • Genomics & Informatics
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    • 제12권4호
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    • pp.181-186
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    • 2014
  • Genome-wide association studies have proven the highly polygenic architecture of complex diseases or traits; therefore, single-locus-based methods are usually unable to detect all involved loci, especially when individual loci exert small effects. Moreover, the majority of associated single-nucleotide polymorphisms resides in non-coding regions, making it difficult to understand their phenotypic contribution. In this work, we studied epistatic interactions associated with three common diseases using Korea Association Resource (KARE) data: type 2 diabetes mellitus (DM), hypertension (HT), and coronary artery disease (CAD). We showed that epistatic single-nucleotide polymorphisms (SNPs) were enriched in enhancers, as well as in DNase I footprints (the Encyclopedia of DNA Elements [ENCODE] Project Consortium 2012), which suggested that the disruption of the regulatory regions where transcription factors bind may be involved in the disease mechanism. Accordingly, to identify the genes affected by the SNPs, we employed whole-genome multiple-cell-type enhancer data which discovered using DNase I profiles and Cap Analysis Gene Expression (CAGE). Assigned genes were significantly enriched in known disease associated gene sets, which were explored based on the literature, suggesting that this approach is useful for detecting relevant affected genes. In our knowledge-based epistatic network, the three diseases share many associated genes and are also closely related with each other through many epistatic interactions. These findings elucidate the genetic basis of the close relationship between DM, HT, and CAD.

Identification and Characterization of a Putative Basic Helix-Loop-Helix (bHLH) Transcription Factor Interacting with Calcineurin in C. elegans

  • Lee, Soo-Ung;Song, Hyun-Ok;Lee, Wonhae;Singaravelu, Gunasekaran;Yu, Jae-Ran;Park, Woo-Yoon
    • Molecules and Cells
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    • 제28권5호
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    • pp.455-461
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    • 2009
  • Calcineurin is a $Ca^{2+}$/Calmodulin activated Ser/Thr phosphatase that is well conserved from yeast to human. It is composed of catalytic subunit A (CnA) and regulatory subunit B (CnB). C. elegans homolog of CnA and CnB has been annotated to tax-6 and cnb-1, respectively and in vivo function of both genes has been intensively studied. In C. elegans, calcineurin play roles in various signaling pathways such as fertility, movement, body size regulation and serotonin-mediated egg laying. In order to understand additional signaling pathway(s) in which calcineurin functions, we screened for binding proteins of TAX-6 and found a novel binding protein, HLH-11. The HLH-11, a member of basic helix-loop-helix (bHLH) proteins, is a putative counterpart of human AP4 transcription factor. Previously bHLH transcription factors have been implicated to regulate many developmental processes such as cell proliferation and differentiation, sex determination and myogenesis. However, the in vivo function of hlh-11 is largely unknown. Here, we show that hlh-11 is expressed in pharynx, intestine, nerve cords, anal depressor and vuvla muscles where calcineurin is also expressed. Mutant analyses reveal that hlh-11 may have role(s) in regulating body size and reproduction. More interestingly, genetic epistasis suggests that hlh-11 may function to regulate serotoninmediated egg laying at the downstream of tax-6.