• Title/Summary/Keyword: Selection Signature Analysis

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Genetic Diversity and Characterization of DPE1 Gene in Rice Germplasm

  • Aueangporn Somsri;Yong-Jin Park
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.220-220
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    • 2022
  • Disproportionating Enzyme 1 (DPE1) is an a-1,4-D-glucanotransferase that cleavages the a-1,4-glucosidic bonds and transfers glucosyl groups. In rice endosperm, it participates in starch synthesis by transferring maltooligosyl groups from amylose and amylopectin to amylopectin. Here, we investigated the haplotype variations and evolutionary indices (e.g., genetic diversity and population structure) for the DPE1 gene in 374 rice accessions representing seven subgroups (wild, indica, temperate japonica, tropical japonica, aus, aromatic, and admixture). Variant calling analysis of DPE1 coding regions leads to the identification of six functional haplotypes representing/occupying 8 nonsynonymous SNPs. Nucleotide diversity analysis revealed the highest pi-value in wild group (0.0556) compared to other cultivated groups, of which temperate japonica showed the most reduction of genetic diversity value (0.003). A significant positive Tajima's D value (1.6330) of admixture highlights sudden population contraction under balancing selection, while temperate japonica with the lowest Tajima's D value (-1.3523) showed a selection signature of DPE1 domestication which might be the cause of excess of rare alleles. Moreover, these two subpopulations exhibits a greater differentiation (FST=0.0148), indicating a higher genetic diversity. Our findings on functional DPE1 haplotypes will be useful in future breeding programs, and the evolutionary indices can also be applicable in functional studies of the DPE1 gene.

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Genomic analysis reveals selection signatures of the Wannan Black pig during domestication and breeding

  • Zhang, Wei;Yang, Min;Wang, Yuanlang;Wu, Xudong;Zhang, Xiaodong;Ding, Yueyun;Yin, Zongjun
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.5
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    • pp.712-721
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    • 2020
  • Objective: The Wannan Black pig is a typical Chinese indigenous, disease-resistant pig breed with high fertility, and a crude-feed tolerance that has been bred by artificial selection in the south of Anhui province for a long time. However, genome variation, genetic relationships with other pig breeds, and domestication, remain poorly understood. Here, we focus on elucidating the genetic characteristics of the Wannan Black pig and identifying selection signatures during domestication and breeding. Methods: We identified the whole-genome variation in the Wannan Black pig and performed population admixture analyses to determine genetic relationships with other domesticated pig breeds and wild boars. Then, we identified the selection signatures between the Wannan Black pig and Asian wild boars in 100-kb windows sliding in 10 kb steps by using two approaches: the fixation index (FST) and π ratios. Results: Resequencing the Wannan Black pig genome yielded 501.52 G of raw data. After calling single-nucleotide variants (SNVs) and insertions/deletions (InDels), we identified 21,316,754 SNVs and 5,067,206 InDels (2,898,582 inserts and 2,168,624 deletions). Additionally, we found genes associated with growth, immunity, and digestive functions. Conclusion: Our findings help in explaining the unique genetic and phenotypic characteristics of Wannan Black pigs, which in turn can be informative for future breeding programs of Wannan Black pigs.

Biocomputational Characterization and Evolutionary Analysis of Bubaline Dicer1 Enzyme

  • Singh, Jasdeep;Mukhopadhyay, Chandra Sekhar;Arora, Jaspreet Singh;Kaur, Simarjeet
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.6
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    • pp.876-887
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    • 2015
  • Dicer, an ribonuclease type III type endonuclease, is the key enzyme involved in biogenesis of microRNAs (miRNAs) and small interfering RNAs (siRNAs), and thus plays a critical role in RNA interference through post transcriptional regulation of gene expression. This enzyme has not been well studied in the Indian water buffalo, an important species known for disease resistance and high milk production. In this study, the primary coding sequence (5,778 bp) of bubaline dicer (GenBank: AB969677.1) was determined and the bubaline Dicer1 biocomputationally characterized to determine the phylogenetic signature among higher eukaryotes. The evolutionary tree revealed that all the transcript variants of Dicer1 belonging to a specific species were within the same node and the sequences belonging to primates, rodents and lagomorphs, avians and reptiles formed independent clusters. The bubaline dicer1 is closely related to that of cattle and other ruminants and significantly divergent from dicer of lower species such as tapeworm, sea urchin and fruit fly. Evolutionary divergence analysis conducted using MEGA6 software indicated that dicer has undergone purifying selection over the time. Seventeen divergent sequences, representing each of the families/taxa were selected to study the specific regions of positive vis-$\grave{a}$-vis negative selection using different models like single likelihood ancestor counting, fixed effects likelihood, and random effects likelihood of Datamonkey server. Comparative analysis of the domain structure revealed that Dicer1 is conserved across mammalian species while variation both in terms of length of Dicer enzyme and presence or absence of domain is evident in the lower organisms.

Characterization of PUL Haplotypes and Its Evolutionary Analyses in Korean Rice Accessions

  • Thant Zin Maung;Yong-Jin Park
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.217-217
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    • 2022
  • Pullulanase (PUL), a debranching enzyme, has been utilized in hydrolyzing the a-1,6 glucosidic linkages in starch, amylopectin, pullulan, as well as related oligosaccharides. It has also been indicated that PUL is a novel indicator of inherent RS (Resistant Starch) formation in rice. In this study, we performed haplotype analysis on 320 bred rice accessions, and additional 54 wild accessions were added to study genetic diversity along with other population-based analyses of the PUL gene. Through these investigations, we summarized a total of 10 functional (non-synonymous) SNPs from 7 different exons on chromosome 4. There were 10 haplotypes, of which only six haplotypes were functional, implicating different subpopulations. Diversity reduction was noticed in temperate japonica (0.0005) compared to the highest one (aus, 0.0154), illustrating their higher genetic differentiation by FST-value (0.926). The highest Tajima^ D value was observed in indica (3.6613), indicating PUL gene domestication signature under balancing selection, while the lowest Tajima's D value was found in temperate japonica (-2.2191) which might have undergone under positive selection and purified due to the excess of rare alleles. PCA, population structure, and phylogenetic analyses provide information on the genetic relatedness between and or among the cultivated subpopulations and the wild based on PUL genomic region.

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Evaluations of AI-based malicious PowerShell detection with feature optimizations

  • Song, Jihyeon;Kim, Jungtae;Choi, Sunoh;Kim, Jonghyun;Kim, Ikkyun
    • ETRI Journal
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    • v.43 no.3
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    • pp.549-560
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    • 2021
  • Cyberattacks are often difficult to identify with traditional signature-based detection, because attackers continually find ways to bypass the detection methods. Therefore, researchers have introduced artificial intelligence (AI) technology for cybersecurity analysis to detect malicious PowerShell scripts. In this paper, we propose a feature optimization technique for AI-based approaches to enhance the accuracy of malicious PowerShell script detection. We statically analyze the PowerShell script and preprocess it with a method based on the tokens and abstract syntax tree (AST) for feature selection. Here, tokens and AST represent the vocabulary and structure of the PowerShell script, respectively. Performance evaluations with optimized features yield detection rates of 98% in both machine learning (ML) and deep learning (DL) experiments. Among them, the ML model with the 3-gram of selected five tokens and the DL model with experiments based on the AST 3-gram deliver the best performance.

Selection signature reveals genes associated with susceptibility loci affecting respiratory disease due to pleiotropic and hitchhiking effect in Chinese indigenous pigs

  • Xu, Zhong;Sun, Hao;Zhang, Zhe;Zhang, Cheng-Yue;Zhao, Qing-bo;Xiao, Qian;Olasege, Babatunde Shittu;Ma, Pei-Pei;Zhang, Xiang-Zhe;Wang, Qi-Shan;Pan, Yu-Chun
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.2
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    • pp.187-196
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    • 2020
  • Objective: Porcine respiratory disease is one of the most important health problems causing significant economic losses. To understand the genetic basis for susceptibility to swine enzootic pneumonia (EP) in pigs, we detected 102,809 single nucleotide polymorphisms in a total of 249 individuals based on genome-wide sequencing data. Methods: Genome comparison of susceptibility to swine EP in three pig breeds (Jinhua, Erhualian, and Meishan) with two western lines that are considered more resistant (Duroc and Landrace) using cross-population extended haplotype homozygosity and F-statistic (FST) statistical approaches identified 691 positively selected genes. Based on quantitative trait loci, gene ontology terms and literature search, we selected 14 candidate genes that have convincible biological functions associated with swine EP or human asthma. Results: Most of these genes were tested by several methods including transcription analysis and candidate genes association study. Among these genes: cytochrome P450 1A1 and catenin beta 1 (CTNNB1) are involved in fertility; transforming growth factor beta receptor 3 plays a role in meat quality traits; Wnt family member 2, CTNNB1 and transcription factor 7 take part in adipogenesis and fat deposition simultaneously; plasminogen activator, urokinase receptor (completely linked to AXL receptor tyrosine kinase, r2 = 1) plays an essential role in the successful ovulation of matured oocytes in pigs; colipase like 2 (strongly linked to SAM pointed domain containing ETS transcription factor, r2 = 0.848) is involved in male fertility. Conclusion: These adverse genes susceptible to swine EP may be selected while selecting for economic traits (especially reproduction traits) due to pleiotropic and hitchhiking effect of linked genes. Our study provided a completely new point of view to understand the genetic basis for susceptibility or resistance to swine EP in pigs thereby, provides insight for designing sustainable breed selection programs. Finally, the candidate genes are crucial due to their potential roles in respiratory diseases in a large number of species, including human.

Genetic signature of strong recent positive selection at interleukin-32 gene in goat

  • Asif, Akhtar Rasool;Qadri, Sumayyah;Ijaz, Nabeel;Javed, Ruheena;Ansari, Abdur Rahman;Awais, Muhammd;Younus, Muhammad;Riaz, Hasan;Du, Xiaoyong
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.7
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    • pp.912-919
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    • 2017
  • Objective: Identification of the candidate genes that play key roles in phenotypic variations can provide new information about evolution and positive selection. Interleukin (IL)-32 is involved in many biological processes, however, its role for the immune response against various diseases in mammals is poorly understood. Therefore, the current investigation was performed for the better understanding of the molecular evolution and the positive selection of single nucleotide polymorphisms in IL-32 gene. Methods: By using fixation index ($F_{ST}$) based method, IL-32 (9375) gene was found to be outlier and under significant positive selection with the provisional combined allocation of mean heterozygosity and $F_{ST}$. Using nucleotide sequences of 11 mammalian species from National Center for Biotechnology Information database, the evolutionary selection of IL-32 gene was determined using Maximum likelihood model method, through four models (M1a, M2a, M7, and M8) in Codeml program of phylogenetic analysis by maximum liklihood. Results: IL-32 is detected under positive selection using the $F_{ST}$ simulations method. The phylogenetic tree revealed that goat IL-32 was in close resemblance with sheep IL-32. The coding nucleotide sequences were compared among 11 species and it was found that the goat IL-32 gene shared identity with sheep (96.54%), bison (91.97%), camel (58.39%), cat (56.59%), buffalo (56.50%), human (56.13%), dog (50.97%), horse (54.04%), and rabbit (53.41%) respectively. Conclusion: This study provides evidence for IL-32 gene as under significant positive selection in goat.

Genetic Diversity and Population Structure Analyses of SSIV-2 Gene in Rice

  • Thant Zin Maung;Yong-Jin Park
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.212-212
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    • 2022
  • Soluble starch synthase (SS) IV-2 is one of the starch synthase gene family members and responsible for starch chain elongation interacting with other rice eating and cooking quality controlling genes (e.g., AGPlar and PUL). SSIV-2 is mainly expressed in leaves, especially at grain-filling stage and its alleles can significantly affect rice quality. Here, we investigated the genetic diversity and population structure analyses of SSIV-2 gene by using 374 rice accessions. This rice set was grouped into 320 cultivated bred (subsequently classified into temperate japonica, indica, tropical japonica, aus, aromatic and admixture) and 54 wild rice. Haplotyping of cultivated rice accessions provided a total of 7 haplotypes, and only three haplotypes are functional indicating four substituted SNPs in two exons of chromosome 5: T/A and G/T in exon 4, and C/G and G/A in exon 13. Including the wild, a highest diverse group (0.0041), nucleotide diversity analysis showed temperate japonica (0.0001) had a lowest diversity value indicating the origin information of this gene evolution. Higher and positive Tajima5s D value of indica (1.9755) indicate a selective signature under balancing selection while temperate japonica (-0.9018) was in lowest Tajima's D value due to a recent selective sweep by positive selection. We found the most diverse genetic components of the wild in PCA but shared in some portion with other cultivated groups. Fixation index (FST-values) and phylogenetic analysis indicate a closer relationship of the wild with indica (FST=0.256) than to its association to both of temperate japonica (FST=0.589). Structure analysis shows a clear separation of cultivated subpopulations at every K value, but genetic components were admixed within the wild illustrating the same genetic background with japonica and indica in some proportion.

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Study of Pre-Filtering Factor for Effectively Improving Dynamic Malware Analysis System (동적 악성코드 분석 시스템 효율성 향상을 위한 사전 필터링 요소 연구)

  • Youn, Kwang-Taek;Lee, Kyung-Ho
    • Journal of the Korea Institute of Information Security & Cryptology
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    • v.27 no.3
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    • pp.563-577
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    • 2017
  • Due to the Internet and computing capability, new and variant malware are discovered around 1 Million per day. Companies use dynamic analysis such as behavior analysis on virtual machines for unknown malware detection because attackers use unknown malware which is not detected by signature based AV effectively. But growing number of malware types are not only PE(Portable Executable) but also non-PE such as MS word or PDF therefore dynamic analysis must need more resources and computing powers to improve detection effectiveness. This study elicits the pre-filtering system evaluation factor to improve effective dynamic malware analysis system and presents and verifies the decision making model and the formula for solution selection using AHP(Analytics Hierarchy Process)

Whole-Genome Resequencing Analysis of Hanwoo and Yanbian Cattle to Identify Genome-Wide SNPs and Signatures of Selection

  • Choi, Jung-Woo;Choi, Bong-Hwan;Lee, Seung-Hwan;Lee, Seung-Soo;Kim, Hyeong-Cheol;Yu, Dayeong;Chung, Won-Hyong;Lee, Kyung-Tai;Chai, Han-Ha;Cho, Yong-Min;Lim, Dajeong
    • Molecules and Cells
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    • v.38 no.5
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    • pp.466-473
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    • 2015
  • Over the last 30 years, Hanwoo has been selectively bred to improve economically important traits. Hanwoo is currently the representative Korean native beef cattle breed, and it is believed that it shared an ancestor with a Chinese breed, Yanbian cattle, until the last century. However, these two breeds have experienced different selection pressures during recent decades. Here, we whole-genome sequenced 10 animals each of Hanwoo and Yanbian cattle (20 total) using the Illumina HiSeq 2000 sequencer. A total of approximately 3.12 and 3.07 billion sequence reads were mapped to the bovine reference sequence assembly (UMD 3.1) at an average of approximately 10.71- and 10.53-fold coverage for Hanwoo and Yanbian cattle, respectively. A total of 17,936,399 single nucleotide polymorphisms (SNPs) were yielded, of which 22.3% were found to be novel. By annotating the SNPs, we further retrieved numerous nonsynonymous SNPs that may be associated with traits of interest in cattle. Furthermore, we performed whole-genome screening to detect signatures of selection throughout the genome. We located several promising selective sweeps that are potentially responsible for economically important traits in cattle; the PPP1R12A gene is an example of a gene that potentially affects intramuscular fat content. These discoveries provide valuable genomic information regarding potential genomic markers that could predict traits of interest for breeding programs of these cattle breeds.