• Title/Summary/Keyword: genetic variability

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Beyond gene expression level: How are Bayesian methods doing a great job in quantification of isoform diversity and allelic imbalance?

  • Oh, Sunghee;Kim, Chul Soo
    • Journal of the Korean Data and Information Science Society
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    • v.27 no.1
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    • pp.225-243
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    • 2016
  • Thanks to recent advance of next generation sequencing techniques, RNA-seq enabled to have an unprecedented opportunity to identify transcript variants with isoform diversity and allelic imbalance (Anders et al., 2012) by different transcriptional rates. To date, it is well known that those features might be associated with the aberrant patterns of disease complexity such as tissue (Anders and Huber, 2010; Anders et al., 2012; Nariai et al., 2014) specific differential expression at isoform levels or tissue specific allelic imbalance in mal-functionality of disease processes, etc. Nevertheless, the knowledge of post-transcriptional modification and AI in transcriptomic and genomic areas has been little known in the traditional platforms due to the limitation of technology and insufficient resolution. We here stress the potential of isoform variability and allelic specific expression that are relevant to the abnormality of disease mechanisms in transcriptional genetic regulatory networks. In addition, we systematically review how robust Bayesian approaches in RNA-seq have been developed and utilized in this regard in the field.

Weighted sum multi-objective optimization of skew composite laminates

  • Kalita, Kanak;Ragavendran, Uvaraja;Ramachandran, Manickam;Bhoi, Akash Kumar
    • Structural Engineering and Mechanics
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    • v.69 no.1
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    • pp.21-31
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    • 2019
  • Optimizing composite structures to exploit their maximum potential is a realistic application with promising returns. In this research, simultaneous maximization of the fundamental frequency and frequency separation between the first two modes by optimizing the fiber angles is considered. A high-fidelity design optimization methodology is developed by combining the high-accuracy of finite element method with iterative improvement capability of metaheuristic algorithms. Three powerful nature-inspired optimization algorithms viz. a genetic algorithm (GA), a particle swarm optimization (PSO) variant and a cuckoo search (CS) variant are used. Advanced memetic features are incorporated in the PSO and CS to form their respective variants-RPSOLC (repulsive particle swarm optimization with local search and chaotic perturbation) and CHP (co-evolutionary host-parasite). A comprehensive set of benchmark solutions on several new problems are reported. Statistical tests and comprehensive assessment of the predicted results show CHP comprehensively outperforms RPSOLC and GA, while RPSOLC has a little superiority over GA. Extensive simulations show that the on repeated trials of the same experiment, CHP has very low variability. About 50% fewer variations are seen in RPSOLC as compared to GA on repeated trials.

Evolutionary Rates and Phylogeographical Analysis of Odontoglossum Ringspot Virus Based on the 166 Coat Protein Gene Sequences

  • He, Zhen;Dong, Tingting;Wu, Weiwen;Chen, Wen;Liu, Xian;Li, Liangjun
    • The Plant Pathology Journal
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    • v.35 no.5
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    • pp.498-507
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    • 2019
  • Odontoglossum ringspot virus (ORSV) is a member of the genus Tobamovirus. It is one of the most prevalent viruses infecting orchids worldwide. Earlier studies reported the genetic variability of ORSV isolates from Korea and China. However, the evolutionary rate, timescale, and phylogeographical analyses of ORSV were unclear. Twenty-one coat protein (CP) gene sequences of ORSV were determined in this study, and used them together with 145 CP sequences obtained from GenBank to infer the genetic diversities, evolutionary rate, timescale and migration of ORSV populations. Evolutionary rate of ORSV populations was $1.25{\times}10^{-3}nucleotides/site/y$. The most recent common ancestors came from 30 year ago (95% confidence intervals, 26-40). Based on CP gene, ORSV migrated from mainland China and South Korea to Taiwan island, Germany, Australia, Singapore, and Indonesia, and it also circulated within east Asia. Our study is the first attempt to evaluate the evolutionary rates, timescales and migration dynamics of ORSV.

A case with GRIN2A mutation and its non-neurological manifestations

  • Lee, Soo Yeon;Jung, So Yoon;Lee, Jeongho
    • Journal of Genetic Medicine
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    • v.17 no.2
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    • pp.79-82
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    • 2020
  • In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

Morphological Variations in Tetrapleura tetraptera Taub. (Fabaceae) Fruits and Seed Traits from Lowland Rainforest Zones of Nigeria: A Keystone Non Timber Forest Tree Species in the Tropics

  • Aishat Adeola Olaniyi;Samuel Olalekan Olajuyigbe;Musbau Bayo Olaniyi
    • Journal of Forest and Environmental Science
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    • v.40 no.2
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    • pp.111-117
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    • 2024
  • An evaluation was carried out on variability in morphology of fruits and seeds (number and weight) of Tetrapleura tetraptera (Schumach. and Thonn.) Taub. from different populations across its distribution range in Nigeria. Bulk fruit samples were collected and examined for variations in morphological characters. Differences in morphological character of fruits and seeds among the populations were determined using analysis of variance at 5% level of probability. The relationships among morphological characters were determined using Pearson correlation coefficient (r). Significant variations (p<0.05) existed among T. tetraptera populations for all the evaluated characters: fruit length, fruit width, number of seeds per fruit and seed weight. A positive significant strong correlation (r=0.96) was found between seed weight and number of seeds per fruit, while no correlation existed between fruit length, width and number of seeds. Seed weight was positively correlated with minimum altitude (r=0.97) and maximum altitude (r=0.99) of seed populations. Number of seeds was also significantly correlated with maximum altitude (r=0.965). There was no significant correlation between geo-climatic variables and fruit dimensions (length and width). Observed variations in morphological traits within and across populations of T. tetraptera may be used as proxy to estimate genetic diversity and selection of superior trees for improved productivity.

Genetic Diversity and Population Structure of Brassica juncea by Random Amplified Polymorphic DNA (RAPD) (RAPD를 이용한 겨자의 유전적 다양성과 집단구조)

  • Oh, Yung-Hee;Moon, Sung-Gi;Chae, Yang-Hee;Hong, Hwa-Jin;Cho, Min-Cheol;Park, So-Hye;Huh, Man-Kyu
    • Journal of Life Science
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    • v.20 no.10
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    • pp.1538-1543
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    • 2010
  • This study was conducted to examine the genetic diversity and population structure of 17 Brassica juncea populations in Korea. The technique of random amplified polymorphic DNA (RAPD) produced 60 polymorphic loci and 18 monomorphic loci. In a simple measure of intraspecies variability by the percentage of polymorphic bands, the Jindo population of Cheonnam showed the highest (29.5%). The cultivar exhibited the lowest variation (12.8%). Mean number of alleles per locus (A) and the effective number of alleles per locus ($A_E$) were 1.221 and 1.167, respectively. As the typical populations of this species were small, isolated, and patchily distributed in their natural populations, they maintained a low level of genetic diversity of fourteen primers. On a per locus basis, total genetic diversity values ($H_T$) and interlocus variation in the within-population genetic diversity ($H_S$) were 0.347 and 0.141, respectively. On a per-locus basis, the proportion of total genetic variation due to differences among populations ($G_{ST}$) was 0.589. This indicated that about 58.9% of the total variation was among populations. The estimate of gene flow, based on $G_{ST}$, was very low among Korean populations of B. juncea ($N_m$=0.617). These results suggest that the geological distance dispersal of wild B. juncea is the best event. RAPD markers are very effective in classifying natural population levels of B. juncea in Korea.

Reference Gene Screening for Analyzing Gene Expression Across Goat Tissue

  • Zhanga, Yu;Zhang, Xiao-Dong;Liu, Xing;Li, Yun-Sheng;Ding, Jian-Ping;Zhang, Xiao-Rong;Zhang, Yun-Hai
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.12
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    • pp.1665-1671
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    • 2013
  • Real-time quantitative PCR (qRT-PCR) is one of the important methods for investigating the changes in mRNA expression levels in cells and tissues. Selection of the proper reference genes is very important when calibrating the results of real-time quantitative PCR. Studies on the selection of reference genes in goat tissues are limited, despite the economic importance of their meat and dairy products. We used real-time quantitative PCR to detect the expression levels of eight reference gene candidates (18S, TBP, HMBS, YWHAZ, ACTB, HPRT1, GAPDH and EEF1A2) in ten tissues types sourced from Boer goats. The optimal reference gene combination was selected according to the results determined by geNorm, NormFinder and Bestkeeper software packages. The analyses showed that tissue is an important variability factor in genes expression stability. When all tissues were considered, 18S, TBP and HMBS is the optimal reference combination for calibrating quantitative PCR analysis of gene expression from goat tissues. Dividing data set by tissues, ACTB was the most stable in stomach, small intestine and ovary, 18S in heart and spleen, HMBS in uterus and lung, TBP in liver, HPRT1 in kidney and GAPDH in muscle. Overall, this study provided valuable information about the goat reference genes that can be used in order to perform a proper normalisation when relative quantification by qRT-PCR studies is undertaken.

A Population Genetic Analysis of the Common Squid, Todarodes pacificus Steenstrup in the Korean Waters (한국 해역에 분포하는 오징어의 집단유전학적 방법에 의한 계군분석)

  • KANG Yong-Joo;KIM Yeong-Hye;HONG Yong-Ki;PARK Jung-Youn;PARK Kie-Young
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.29 no.3
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    • pp.320-331
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    • 1996
  • Electrophoretic comparisons of 482 individuals of Todarodes pacificus from 9 fishing areas were made to estimate genetic variability and differentiation using 17 enzymes. Strong activities were shown by 9 enzymes with 11 gene loci. The 9 sample lots could be divided into 3 genetic groups, based on dendrogram analysis using the Nei's genetic distance. The Summer, Autumn and Winter cohorts were identified as three seperated ecological populations which maintain genetic exchange. It is postulated that either the Summer cohort or the Autumn cohort has indepenently developed a local population that was isolated by hydrographic factors.

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Postharvest Nut Quality, and Changes of Soluble Solids Content and Kernel Hardness During Cold Storage in Korean Prevailing Chestnut Cultivars (밤 재배품종의 수확 후 과실품질 및 저온저장 중 밤 과실의 당도 및 경도 변화)

  • Kim, Mahn-Jo;Lee, Uk;Kim, Sun-Chang;Hwang, Myoung-Soo;Kwon, Yong-Hee;Lee, Moon-Ho
    • Journal of Korean Society of Forest Science
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    • v.95 no.6
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    • pp.672-679
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    • 2006
  • Postharvest nut quality, and changes of soluble solids content and kernel hardness during cold storage in 13 Korean prevailing chestnut cultivars were investigated to establish the chestnut grading and standardization for marketing and processing industry. Chestnut quality attributes such as nut weight, soluble solids content, kernel hardness, % with the pericarp split, and % of polyembryonic nuts were measured from 2001 to 2005. There were significant difference among cultivars in quality characteristics, and also annual variation within same cultivar, corresponded to the high genetic and environmental variability. During cold storage at $2^{\circ}C$ for 16 weeks, remarkable changes in soluble solids content were observed, and Isseumo showed the highest increase of 8% at 16 weeks of cold storage compared with postharvest. In case of most cultivars except early ripening cultivars, soluble solids content of chestnut increased until 12 weeks during cold storage, followed by decreased gradually thereafter. Kernel hardness of most cultivars except lshizuchi during cold storage increased slightly, but it was not statistically significant. This work would be a useful reference to the quality of each chestnut cultivar for the growers and breeders alike.

Comparative genetic diversity of wild and released populations of Pacific abalone Haliotis discus discus in Jeju, Korea, based on cross-species microsatellite markers including two novel loci

  • An, Hye-Suck;Hong, Seong-Wan;Kim, En-Mi;Lee, Jeong-Ho;Noh, Jae-Koo;Kim, Hyun-Chul;Park, Chul-Ji;Min, Byung-Hwa;Myeong, Jeong-In
    • Animal cells and systems
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    • v.14 no.4
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    • pp.305-313
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    • 2010
  • Pacific abalone Haliotis discus discus is an important fisheries resource in Jeju, Korea. For basic information about its current genetic status in relation to stock enhancement, the level and distribution of genetic variation between wild and released stocks of Pacific abalone in Jeju were examined at nine cross-species microsatellite markers including the use of two novel primers. High levels of polymorphism were observed between the two populations. A total of 146 different alleles were found at all loci, with some alleles being unique. The allelic variability ranged from five to 27 in the wild population and from four to 16 in the released sample. The average observed and expected heterozygosities were estimated to be 0.74 and 0.84 in the wild sample and 0.70 and 0.78 in the released sample, respectively. Although a considerable loss of rare alleles was observed in the released sample, no statistically significant reductions were found in heterozygosity or allelic diversity in the released sample compared to the wild population. Low but significant genetic differentiation was found between the wild and released populations. These results suggest that the intensive breeding practices for stock enhancement may have resulted in a further decrease in genetic diversity, and that the cross-species microsatellite markers used in this study represent a potentially efficient means for further genetic studies, providing beneficial information for the protection and management of H. discus discus.