• 한국작물학회지
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• 제43권3호
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• pp.135-140
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• 1998

Diallel analysis was conducted with FI's derived from crossing in all combinations without reciprocals among six rice varieties; three tropical japonica and three temperate japonica varieties, with different traits associated with panicle and flag leaf. Epistasis was observed in the number of primary branches (PB) per panicle and of spikelets per panicle, while flag leaf length, flag leaf color, PB length and neck node thickness were explained with the additive-dominance model. The estimated genetic mode of flag leaf length and PB length was a positive complete dominance model with high heritability, and that of flag leaf color and neck node thickness was an incomplete dominance model. In particular, tropical japonica varieties with low-tillering and heavy-panicle appear to have higher number of dominant genes for flag leaf length and PB length than temperate japonica varieties.

• International Journal of Industrial Entomology and Biomaterials
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• 제8권1호
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• pp.113-115
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• 2004

Six generations (P$_1$, P$_2$, F$_1$, BC$_1$, BC$_2$ and F$_2$) of four bivoltine silkworm crosses (SKAU-R-1 ${\times}$ Yakwei, SKAU-R-6 ${\times}$ Yakwei, CSR$_2$ ${\times}$ CSR$_4$ and SH$_{6}$${\times}$ NB$_4$D$_2$) were evaluated in a completely randomized block design with 5 replications for each treatment. The generation mean 2 in respect of 3 metric traits (single cocoon weight, single shell weight, and shell ratio ％), were subjected to Cavallis joint scaling test. Additive dominance model was found to be adequate in CSR$_2$${\times}$CSR$_4$ and SH$_{6}$${\times}$ NB$_4$D$_2$ for single cocoon weight and shell weight and SKAU-R-6 ${\times}$ Yakwei for shell ratio(％). Whereas, in rest of the crosses epistasis was evident in the traits under investigation. Magnitude of additive gene effect (d) was greater than dominance(h) in SH$_{6}$${\times}$NB$_4$D$_2$ and SKUA-R-6${\times}$Yakwei for shell ratio (％) and in CSR$_2$${\times}$ CSR$_4$ for shell weight. Thus selection for these traits in early segregating generations of these crosses would be effective for obtaining considerable genetic gain. gain.

• 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.

• 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.

• Animal Bioscience
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• 제37권4호
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• pp.622-630
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• 2024

Objective: Pig breeders cannot obtain phenotypic information at the time of selection for sow lifetime productivity (SLP). They would benefit from obtaining genetic information of candidate sows. Genomic data interpreted using deep learning (DL) techniques could contribute to the genetic improvement of SLP to maximize farm profitability because DL models capture nonlinear genetic effects such as dominance and epistasis more efficiently than conventional genomic prediction methods based on linear models. This study aimed to investigate the usefulness of DL for the genomic prediction of two SLP-related traits; lifetime number of litters (LNL) and lifetime pig production (LPP). Methods: Two bivariate DL models, convolutional neural network (CNN) and local convolutional neural network (LCNN), were compared with conventional bivariate linear models (i.e., genomic best linear unbiased prediction, Bayesian ridge regression, Bayes A, and Bayes B). Phenotype and pedigree data were collected from 40,011 sows that had husbandry records. Among these, 3,652 pigs were genotyped using the PorcineSNP60K BeadChip. Results: The best predictive correlation for LNL was obtained with CNN (0.28), followed by LCNN (0.26) and conventional linear models (approximately 0.21). For LPP, the best predictive correlation was also obtained with CNN (0.29), followed by LCNN (0.27) and conventional linear models (approximately 0.25). A similar trend was observed with the mean squared error of prediction for the SLP traits. Conclusion: This study provides an example of a CNN that can outperform against the linear model-based genomic prediction approaches when the nonlinear interaction components are important because LNL and LPP exhibited strong epistatic interaction components. Additionally, our results suggest that applying bivariate DL models could also contribute to the prediction accuracy by utilizing the genetic correlation between LNL and LPP.

• 생명과학회지
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• 제28권4호
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• pp.398-407
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• 2018

벼 자색 종자과피(Purple pericarp, Prp) 형질은 주요 생리활성물질인 안토시아닌 C3G 생성에 관여하며 흑미를 결정하는 주요 유전형질이다. Prp 유전형질을 가진 흑미와 종자과피에 색이 없는 벼를 교배할 경우 그 후대는 검정색, 갈색, 백색이 각각 9:3:4로 분리된다. 1921년 Nagai에 의하여 제시된 바 벼 종자 색의 9:3:4 유전분리비로 인하여 벼 Prp 형질은 유전자의 열성상위(recessive epistasis) 현상으로 해석되었다. 그러나 흑미를 결정하는 Prp 형질은 두 개의 상보적 유전자들의 상호관계(complementary gene interaction)에 의한 것이기도 하다. 본 연구에서는 이러한 논란이 발생되는 이유를 설명하기 위하여 두 유전자의 조성이 완전한 이형접합인 Pbpb Pppp 유전자형을 가진 $F_1$ 잡종을 만들었다. 이들의 자손은 진한자색(검정), 중간자색, 갈색, 백색 종자이며 각각 3:6:3:4로 분리되었다. 즉, 검정색, 갈색, 백색의 종자가 각각 9:3:4의 비율로 분리된다. 그러나 생화학적인 분석결과 이들은 안토시아닌 중 cyanidin 3-O-glucoside (C3G)가 축적된 검정색 종자와 C3G가 없는 갈색 또는 백색 종자인 두 개의 집단을 분리되며 정확히 9:7의 분리 비를 갖는다. 이 경우 벼 Prp 형질을 갖는 검정쌀 또는 흑미는 전형적인 상보적 유전자의 상호관계에 의한 유전현상이다. 즉, 흑미의 자색 종피 형질 발현에는 Pb 유전자와 Pp 유전자에서 각각 한 개 이상의 우성대립인자의 발현이 필요하다. 그러나 Pb 유전자만 우성대립인자가 존재하는 Pb_ pppp 유전자형의 벼는 C3G를 생성하지 못하고 갈색 종자과피(Brown pericarp, Brp) 형질을 갖게 된다. 즉 갈색쌀는 우성 Pb 유전자의 우성대립인자에 의하여 결정된다. 그러므로 종피색을 결정하는 Prp 형질의 유전양상은 열성상위 현상으로 보이나 흑미의 결정요소인 안토시아닌 C3G의 함유 여부에 관한 유전분석을 시행하면 9:7의 비율로서 전형적인 두 개의 유전자가 모두 관여하는 상보적 유전현상이다. 유전적 정의는 유전자의 최종산물에 의한 물리적 또는 화학적 결정이다. 그러므로 결론하여 검정 쌀의 주요 생리활성물질인 안토시아닌 C3G 생성에 관한 유전현상은 Pb와 Pp 유전자의 상보적 유전자의 상호에 의한 것이다.

• Genomics & Informatics
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• 제14권4호
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• pp.160-165
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• 2016

Over the past decade, the detection of gene-gene interactions has become more and more popular in the field of genome-wide association studies (GWASs). The goal of the GWAS is to identify genetic susceptibility to complex diseases by assaying and analyzing hundreds of thousands of single-nucleotide polymorphisms. However, such tests are computationally demanding and methodologically challenging. Recently, a simple but powerful method, named "BOolean Operation-based Screening and Testing" (BOOST), was proposed for genome-wide gene-gene interaction analyses. BOOST was designed with a Boolean representation of genotype data and is approximately equivalent to the log-linear model. It is extremely fast, and genome-wide gene-gene interaction analyses can be completed within a few hours. However, BOOST can not adjust for covariate effects, and its type-1 error control is not correct. Thus, we considered two-step approaches for gene-gene interaction analyses. First, we selected gene-gene interactions with BOOST and applied logistic regression with covariate adjustments to select gene-gene interactions. We applied the two-step approach to type 2 diabetes (T2D) in the Korea Association Resource (KARE) cohort and identified some promising pairs of single-nucleotide polymorphisms associated with T2D.

• 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.

• 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.

• 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.