• Title/Summary/Keyword: epistasis

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

  • Qin, Yang;Kim, Suk-Man;Sohn, Jae-Keun
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.54 no.2
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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
    • Korean journal of applied entomology
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    • v.34 no.1
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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
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.47 no.1
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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.

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

  • 장권열;한경수;민병렬
    • Journal of Sericultural and Entomological Science
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    • v.10
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    • pp.41-43
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    • 1969
  • The experimental studies were intended to clarify the effects leaf yield calculations, and also aimed at estimating the heritabilities on some characters for the selection of desirable stocks of mulberry trees. The method of estimating heritabilities for the eight characters-branch length, node number, branch diameter, branch number per stock, total branch weight, old branch weight, new shoot and leaf weight, and leaf weight, was the variance components procedures in a replicated trial for the varietal lines. The results are summarized as follows: Means, variances and standard errors for the characters are shown in table 1, and the results of variance analyses are also shown in table 2. Heritability values of node number was the highest, and these of branch number per stock was the lowest, and these of other six characters were intermediate values. These all calculated heritability values were higher than anticipated. This was expected since these values, which were the broad sense heritability, contain the variance due to dominance and epistasis in addition to the additive variance.

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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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    • 2016.05a
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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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Analysis of epistatic interactions and properties of UV-sensitive, uvs mutants of Aspergillus nidulans (Aspergillus nidulans의 자외선 감수성, uvs 돌연변이주들의 epistatic 연관성 및 성질에 대하여)

  • Chae, Suhn-Kee
    • The Journal of Natural Sciences
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    • v.11 no.1
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    • pp.45-54
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    • 1999
  • In epistatic grouping of uvs genes in A. nidulans based on the sensitivities to 4-NQO, the same epistatic grouping was obtained as those for UV and MMS-sensitivities. Based on the MMS-sensitivities, uvsA demonstrated synergistic interactions to uvsF and uvsH, the UvsF group genes, but exhibited epistatic interactions to uvsB and uvsC. The same epistatic grouping was also seen for uvsI when UV was irradiated after 4h germination of conidia, showing synergistic interactions to uvsH, uvsC, and uvsB. However, epistatic interactions were observed with uvsF, which were different from those obtained in quiescent conidia by UV. Intergenic and intragenic recombination frequencies were normal in uvsI compared with wild type.

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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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    • v.23 no.1
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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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    • v.10 no.4
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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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    • v.12 no.4
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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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    • v.28 no.5
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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.