• Title/Summary/Keyword: Whole-genome sequence

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Identification of copy number variations using high density whole-genome single nucleotide polymorphism markers in Chinese Dongxiang spotted pigs

  • Wang, Chengbin;Chen, Hao;Wang, Xiaopeng;Wu, Zhongping;Liu, Weiwei;Guo, Yuanmei;Ren, Jun;Ding, Nengshui
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.12
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    • pp.1809-1815
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    • 2019
  • Objective: Copy number variations (CNVs) are a major source of genetic diversity complementary to single nucleotide polymorphism (SNP) in animals. The aim of the study was to perform a comprehensive genomic analysis of CNVs based on high density whole-genome SNP markers in Chinese Dongxiang spotted pigs. Methods: We used customized Affymetrix Axiom Pig1.4M array plates containing 1.4 million SNPs and the PennCNV algorithm to identify porcine CNVs on autosomes in Chinese Dongxiang spotted pigs. Then, the next generation sequence data was used to confirm the detected CNVs. Next, functional analysis was performed for gene contents in copy number variation regions (CNVRs). In addition, we compared the identified CNVRs with those reported ones and quantitative trait loci (QTL) in the pig QTL database. Results: We identified 871 putative CNVs belonging to 2,221 CNVRs on 17 autosomes. We further discarded CNVRs that were detected only in one individual, leaving us 166 CNVRs in total. The 166 CNVRs ranged from 2.89 kb to 617.53 kb with a mean value of 93.65 kb and a genome coverage of 15.55 Mb, corresponding to 0.58% of the pig genome. A total of 119 (71.69%) of the identified CNVRs were confirmed by next generation sequence data. Moreover, functional annotation showed that these CNVRs are involved in a variety of molecular functions. More than half (56.63%) of the CNVRs (n = 94) have been reported in previous studies, while 72 CNVRs are reported for the first time. In addition, 162 (97.59%) CNVRs were found to overlap with 2,765 previously reported QTLs affecting 378 phenotypic traits. Conclusion: The findings improve the catalog of pig CNVs and provide insights and novel molecular markers for further genetic analyses of Chinese indigenous pigs.

Whole-genome sequence association study identifies cyclin dependent kinase 8 as a key gene for the number of mummified piglets

  • Pingxian, Wu;Dejuan, Chen;Kai, Wang;Shujie, Wang;Yihui, Liu;Anan, Jiang;Weihang, Xiao;Yanzhi, Jiang;Li, Zhu;Xu, Xu;Xiaotian, Qiu;Xuewei, Li;Guoqing, Tang
    • Animal Bioscience
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    • v.36 no.1
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    • pp.29-42
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    • 2023
  • Objective: Pigs, an ideal biomedical model for human diseases, suffer from about 50% early embryonic and fetal death, a major cause of fertility loss worldwide. However, identifying the causal variant remains a huge challenge. This study aimed to detect single nucleotide polymorphisms (SNPs) and candidate genes for the number of mummified (NM) piglets using the imputed whole-genome sequence (WGS) and validate the potential candidate genes. Methods: The imputed WGS was introduced from genotyping-by-sequencing (GBS) using a multi-breed reference population. We performed genome-wide association studies (GWAS) for NM piglets at birth from a Landrace pig populatiGWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase on. A total of 300 Landrace pigs were genotyped by GBS. The whole-genome variants were imputed, and 4,252,858 SNPs were obtained. Various molecular experiments were conducted to determine how the genes affected NM in pigs. Results: A strong GWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase 8 (CDK8) gene, which plays a crucial role in embryonic retardation and lethality. Based on the molecular experiments, we found that Y-box binding protein 1 (YBX1) was a crucial transcription factor for CDK8, which mediated the effect of CDK8 in the proliferation of porcine ovarian granulosa cells via transforming growth factor beta/small mother against decapentaplegic signaling pathway, and, as a consequence, affected embryo quality, indicating that this pathway may be contributing to mummified fetal in pigs. Conclusion: A powerful imputation-based association study was performed to identify genes associated with NM in pigs. CDK8 was suggested as a functional gene for the proliferation of porcine ovarian granulosa cells, but further studies are required to determine causative mutations and the effect of loci on NM in pigs.

Current Status on Molecular Genetic Study and Comparative Genomic Analysis of Virulence Related Genes in Xanthomonas oryzae pv. oryzae (벼 흰잎마름병균(Xanthomonas oryzae pv. oryzae)의 병원성 유전자의 분자유전학적 연구현황 및 비교유전체 분석)

  • Kang, Hee-Wan;Park, Young-Jin;Lee, Byeong-Moo
    • Korean Journal of Microbiology
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    • v.44 no.1
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    • pp.1-9
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    • 2008
  • Xanthomonas oryzae pv. oryzae (Xoo) is the causal agent of bacterial blight on rice. In this paper, current status on molecular genetic study of major virulence genes, hypersensitive response and pathogenicity (hrp), productions of extracellular polysaccharide (EPS), extracellular enzymes and lipopolysaccharides (LPS), avr genes were reviewed. The IS elements with 611 copies including 133 ORF IS were inserted in various regions of the Xoo genome and in expecially regions franking virulence genes. Whole genome sequence of X. oryzae pv. oryzae KACC10331 were used for defining genetic organization of the virulence genes. Futhermore, the virulence genes in Xoo genome were compared to those of other Xanthomonas species in Blast GenBank data base.

Complete genome sequence of Runella sp. ABRDSP2, a new mono-aromatic compounds degrading bacterium isolated from freshwater (담수로부터 분리한 단환성 화합물 분해 미생물 Runella sp. ABRDSP2의 전장 유전체 서열)

  • Kang, Hye Kyeong;Ryu, Byung-Gon;Choi, Kyung Min;Jin, Hyun Mi
    • Korean Journal of Microbiology
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    • v.55 no.1
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    • pp.55-57
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    • 2019
  • The Runella sp. ABRDSP2, capable of degrading mono-aromatic compounds such as toluene, was isolated from freshwater. The whole genome, consisting of a circular single chromosome and three plasmids, was composed of total 7,613,819 bp length with 44.4% G+C contents and 6,006 genes. The genome of strain ABRDSP2 contains many aromatic hydrocarbon degrading genes such as monooxygenase, ring-cleaving dioxygenase, and catechol 1,2-dioxygenase. The complete genome reveals versatile biodegradation capabilities of Runella sp. ABRDSP2.

Identification of SNPs Related to 19 Phenotypic Traits Using Genome-wide Association Study (GWAS) Approach in Korean Wheat Mini-core Collection

  • Yuna Kang;Yeonjun Sung;Seonghyeon Kim;Changsoo Kim
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2020.06a
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    • pp.120-120
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    • 2020
  • Based on the simple sequence repeat (SSR) marker, a Korean wheat core collection were established with 616 wheat accessions. Among them, the SNP genotyping for the entire genome was performed using DNA chip array to clarify the whole genome SNP profiles. Consequently, a total of 35,143 SNPs were found and we re-established a mini-core collection with 247 accessions. Population diversity and phylogenetic analysis revealed genetic diversity and relationships from the mini core set. In addition, genome-wide association study (GWAS) was performed on 19 phenotypic traits; ear type, awn length, culm length, ear length, awn color, seed coat color, culm color, ear color, loading, leaf length, leaf width, seeding stand, cold damage, weight, auricle, plant type, heading stage, maturation period, upright habit, and degree of flag leaf. The GWAS was performed using the fixed and random model circulating probability unification (FarmCPU), which identified 14 to 258 SNP loci related to 19 phenotypic traits. Our study indicates that this Korean wheat mini-core collection is a set of germplasm useful for basic and applied research with the aim of understanding and exploiting the genetic diversity of Korean wheat varieties.

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Complete genome sequence of Pediococcus acidilactici CACC 537 isolated from canine

  • Jung-Ae Kim;Hyun-Jun Jang;Dae-Hyuk Kim;Youn Kyoung Son;Yangseon Kim
    • Journal of Animal Science and Technology
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    • v.65 no.5
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    • pp.1105-1109
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    • 2023
  • Pedi coccus acidilactici CACC 537 was isolated from canine feces and reported to have probiotic properties. We aimed to characterize the potential probiotic properties of this strain by functional genomic analysis. Complete genome sequencing of P. acidilactici CACC 537 was performed using a PacBio RSII and Illumina platform, and contained one circular chromosome (2.0 Mb) with a 42% G + C content. The sequences were annotation revealed 1,897 protein-coding sequences, 15 rRNAs, and 56 tRNAs. It was determined that P. acidilactici CACC 537 genome carries genes known to be involved in the immune system, defense mechanisms, restriction-modification (R-M), and the CRISPR system. CACC 537 was shown to be beneficial in preventing pathogen infection during the fermentation process, help host immunity, and maintain intestinal health. These results provide for a comprehensive understanding of P. acidilactici and the development of industrial probiotic feed additives that can help improve host immunity and intestinal health.

Genomic and Proteomic Analysis of Microbial Function in the Gastrointestinal Tract of Ruminants - Review -

  • White, Bryan A.;Morrison, Mark
    • Asian-Australasian Journal of Animal Sciences
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    • v.14 no.6
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    • pp.880-884
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    • 2001
  • Rumen microbiology research has undergone several evolutionary steps: the isolation and nutritional characterization of readily cultivated microbes; followed by the cloning and sequence analysis of individual genes relevant to key digestive processes; through to the use of small subunit ribosomal RNA (SSU rRNA) sequences for a cultivation-independent examination of microbial diversity. Our knowledge of rumen microbiology has expanded as a result, but the translation of this information into productive alterations of ruminal function has been rather limited. For instance, the cloning and characterization of cellulase genes in Escherichia coli has yielded some valuable information about this complex enzyme system in ruminal bacteria. SSU rRNA analyses have also confirmed that a considerable amount of the microbial diversity in the rumen is not represented in existing culture collections. However, we still have little idea of whether the key, and potentially rate-limiting, gene products and (or) microbial interactions have been identified. Technologies allowing high throughput nucleotide and protein sequence analysis have led to the emergence of two new fields of investigation, genomics and proteomics. Both disciplines can be further subdivided into functional and comparative lines of investigation. The massive accumulation of microbial DNA and protein sequence data, including complete genome sequences, is revolutionizing the way we examine microbial physiology and diversity. We describe here some examples of our use of genomics- and proteomics-based methods, to analyze the cellulase system of Ruminococcus flavefaciens FD-1 and explore the genome of Ruminococcus albus 8. At Illinois, we are using bacterial artificial chromosome (BAC) vectors to create libraries containing large (>75 kbases), contiguous segments of DNA from R. flavefaciens FD-1. Considering that every bacterium is not a candidate for whole genome sequencing, BAC libraries offer an attractive, alternative method to perform physical and functional analyses of a bacterium's genome. Our first plan is to use these BAC clones to determine whether or not cellulases and accessory genes in R. flavefaciens exist in clusters of orthologous genes (COGs). Proteomics is also being used to complement the BAC library/DNA sequencing approach. Proteins differentially expressed in response to carbon source are being identified by 2-D SDS-PAGE, followed by in-gel-digests and peptide mass mapping by MALDI-TOF Mass Spectrometry, as well as peptide sequencing by Edman degradation. At Ohio State, we have used a combination of functional proteomics, mutational analysis and differential display RT-PCR to obtain evidence suggesting that in addition to a cellulosome-like mechanism, R. albus 8 possesses other mechanisms for adhesion to plant surfaces. Genome walking on either side of these differentially expressed transcripts has also resulted in two interesting observations: i) a relatively large number of genes with no matches in the current databases and; ii) the identification of genes with a high level of sequence identity to those identified, until now, in the archaebacteria. Genomics and proteomics will also accelerate our understanding of microbial interactions, and allow a greater degree of in situ analyses in the future. The challenge is to utilize genomics and proteomics to improve our fundamental understanding of microbial physiology, diversity and ecology, and overcome constraints to ruminal function.

Origin and evolution of Korean ginseng revealed by genome sequence

  • Cho, Woohyeon;Shim, Hyeonah;Yang, Tae-Jin
    • Journal of Ginseng Culture
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    • v.3
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    • pp.1-10
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    • 2021
  • Panax ginseng (Ginseng or Korean ginseng) is one of the most important medicinal herbs in the world. We made a high-quality whole genome sequence of P. ginseng using 'Chunpoong' cultivar, which is the first cultivar registered in Korea Seed and Variety Service (KSVS) with relatively similar genotypes and superior phenotypes, representing approximately 3 Gbp and 60,000 genes. Genome sequence analyses of P. ginseng and related speciesrevealed the origin of Korean ginseng and the ecological adaptation of 18 Panax species around the world. Korean ginseng and American ginseng (P. quinquefolius) are tetraploid species having 24 chromosome pairs, while the other 16 species are diploid species with 12 chromosome pairs. Panax and Aralia are the closest genera belonging to the Araliaceae family that diverged approximately 8 million years ago (MYA). All Panax species evolved as shade plants adapting to cool climates and low light conditions under the canopy of deep forests from Southeast Asia such as Vietnam to Northeast Asia such as Russia approximately 6 MYA. However, through recurrent ice ages and global warming, most diploid Panax species disappeared due to the freezing winter, while tetraploid P. ginseng may have appeared by allotetraploidization, which contributed to the adaptation to cold temperaturesin Northeast Asian countries including the Korea peninsula approximately 2 MYA. American ginseng evolved by the adaptation of P. ginseng in Northeast America after the intercontinental migration 1 MYA. Meanwhile, most of diploid Panax species survived in high-altitude mountains over 1,600 meters in Southeast Asia because they could not endure the hot temperature and freezing cold. The genome sequence provides good basisto unveil the origin and evolution of ginseng and also supports practical gene chips which is useful for breeding and the ginseng industry.

Mining the Proteome of Fusobacterium nucleatum subsp. nucleatum ATCC 25586 for Potential Therapeutics Discovery: An In Silico Approach

  • Habib, Abdul Musaweer;Islam, Md. Saiful;Sohel, Md.;Mazumder, Md. Habibul Hasan;Sikder, Mohd. Omar Faruk;Shahik, Shah Md.
    • Genomics & Informatics
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    • v.14 no.4
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    • pp.255-264
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    • 2016
  • The plethora of genome sequence information of bacteria in recent times has ushered in many novel strategies for antibacterial drug discovery and facilitated medical science to take up the challenge of the increasing resistance of pathogenic bacteria to current antibiotics. In this study, we adopted subtractive genomics approach to analyze the whole genome sequence of the Fusobacterium nucleatum, a human oral pathogen having association with colorectal cancer. Our study divulged 1,499 proteins of F. nucleatum, which have no homolog's in human genome. These proteins were subjected to screening further by using the Database of Essential Genes (DEG) that resulted in the identification of 32 vitally important proteins for the bacterium. Subsequent analysis of the identified pivotal proteins, using the Kyoto Encyclopedia of Genes and Genomes (KEGG) Automated Annotation Server (KAAS) resulted in sorting 3 key enzymes of F. nucleatum that may be good candidates as potential drug targets, since they are unique for the bacterium and absent in humans. In addition, we have demonstrated the three dimensional structure of these three proteins. Finally, determination of ligand binding sites of the 2 key proteins as well as screening for functional inhibitors that best fitted with the ligands sites were conducted to discover effective novel therapeutic compounds against F. nucleatum.

Complete mitochondrial genome of the Japanese oak silkmoth, Antheraea yamamai (Lepidoptera: Saturniidae), from Jeju Island, Korea

  • Kim, Kee-Young;Park, Jeong Sun;Lee, Keon Hee;Kim, Min Jee;Kim, Seong-Wan;Park, Jong-Woo;Kang, Sang-Kuk;Kim, Nam-Suk;Kim, Iksoo
    • International Journal of Industrial Entomology and Biomaterials
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    • v.44 no.2
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    • pp.65-71
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    • 2022
  • The wild silkmoth Antheraea yamamai Guérin-Méneville, 1861 (Lepidoptera: Saturniidae) is an important producer of silk that is superior to the silk produced by traditional domesticated silkworm. In this study, we sequenced the complete mitochondrial genome (mitogenome) of An. yamamai collected from Jeju Island, which is the southernmost island approximately 100 km offshore southward from the Korean Peninsula. Determining this sequence will be necessary for tracing the biogeographic history of the species and developing molecular markers for identifying the origin of commercial products. Comparison of the sequence divergence among two available and the current mitogenomes revealed a low but substantial number of substitutions, totaling 23 nucleotides in the whole genome. CytB and ND5 showed the highest variability with five and four variations, respectively, suggesting that these regions will be prior regions to target for subsequent biogeographic and diagnosis study. Phylogenetic reconstruction based on all available sequences of Saturniidae showed that An. yamamai is a sister to the congeneric species An. pernyi, corroborating that Antheraea is a highly supported monophyletic group. The tribe Saturniini was clearly non-monophyletic and interrupted by Attacini and Bunaeini.