• Title/Summary/Keyword: Genomic analysis

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Genetic diversity and selection of Tibetan sheep breeds revealed by whole-genome resequencing

  • Dehong Tian;Buying Han;Xue Li;Dehui Liu;Baicheng Zhou;Chunchuan Zhao;Nan Zhang;Lei Wang;Quanbang Pei;Kai Zhao
    • Animal Bioscience
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    • v.36 no.7
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    • pp.991-1002
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    • 2023
  • Objective: This study aimed to elucidate the underlying gene regions responsible for productive, phenotypic or adaptive traits in different ecological types of Tibetan sheep and the discovery of important genes encoding valuable traits. Methods: We used whole-genome resequencing to explore the genetic relationships, phylogenetic tree, and population genetic structure analysis. In addition, we identified 28 representative Tibetan sheep single-nucleotide polymorphisms (SNPs) and genomic selective sweep regions with different traits in Tibetan sheep by fixation index (Fst) and the nucleotide diversity (θπ) ratio. Results: The genetic relationships analysis showed that each breed partitioned into its own clades and had close genetic relationships. We also identified many potential breed-specific selective sweep regions, including genes associated with hypoxic adaptability (MTOR, TRHDE, PDK1, PTPN9, TMTC2, SOX9, EPAS1, PDGFD, SOCS3, TGFBR3), coat color (MITF, MC1R, ERCC2, TCF25, ITCH, TYR, RALY, KIT), wool traits (COL4A2, ERC2, NOTCH2, ROCK1, FGF5, SOX9), and horn phenotypes (RXFP2). In particular, a horn-related gene, RXFP2, showed the four most significantly associated SNP loci (g. 29481646 A>G, g. 29469024 T>C, g. 29462010 C>T, g. 29461968 C>T) and haplotypes. Conclusion: This finding demonstrates the potential for genetic markers in future molecular breeding programs to improve selection for horn phenotypes. The results will facilitate the understanding of the genetic basis of production and adaptive unique traits in Chinese indigenous Tibetan sheep taxa and offer a reference for the molecular breeding of Tibetan sheep.

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • Korean Journal of Audiology
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    • v.23 no.1
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    • pp.20-26
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    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

Identification of Sex-Specific DNA Sequences in the Chicken (닭의 성특이적 DNA 분리)

  • Song, K.D.;Shin, Y.S.;Han, Jae Y.
    • Korean Journal of Poultry Science
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    • v.20 no.4
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    • pp.177-188
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    • 1993
  • This study was performed to find out the reasonable sexing methods In the chicken, obtain the basic information for the mechanisms related to chicken sexual differentiation and identify the genes which known to involved in chicken sex differentiation. The chromosome analysis of chicken embryonic fibroblast was a simple method to determine sex of chicken by means of Z and W chromosome identification. The bands of female chicken genomic DNA digested with Xho Ⅰ and Eco RI restriction endonuclease showed to be useful in direct sex determination and these repetitive sequences of Xho Ⅰ and Eco RI families were proposed to be very homologous in their sequences by colony hybridization analysis. Seven of 150 random primers were selected to amplify the W chromosome-specific band by using arbitrary primed PCR and three of them were useful to identify the sex of chicken. To identify the sex differentiation genes in the chicken, PCR for the amplification of ZFY and SRY sequences was performed. ZFY and SRY sequences were amplified successfully in the chicken genome, implying that chicken genome might have the sex-related conserved sequences similar to mammalian ones. The PCR products of ZFY amplification were the same in both sexes, suggesting that these sequences may be located on autosome or Z chromosome. The profile of PCR amplification for SRY sequences showed variation between sexes, but this result was not enough to specify whether the SRY gene in chicken is on the autosome or sex chromosome.

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Analysis of whole genome sequencing and virulence factors of Vibrio vulnificus 1908-10 isolated from sea water at Gadeok island coast

  • Hee-kyung Oh;Nameun Kim;Do-Hyung Kim;Hye-Young Shin;Eun-Woo Lee;Sung-Hwan Eom;Young-Mog Kim
    • Fisheries and Aquatic Sciences
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    • v.26 no.9
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    • pp.558-568
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    • 2023
  • Vibrio vulnificus is an aquatic bacterium causing septicemia and wound infection in humans. To understand this pathogen at the genomic level, it was performed whole genome sequencing of a cefoxitin-resistant strain, V. vulnificus 1908-10 possessing virulence-related genes (vvhA, viuB, and vcgC) isolated from Gadeok island coastal seawater in South Korea. The genome of V. vulnificus 1908-10 consisted of two circular contigs and no plasmid. The total genome size was estimated to be 5,018,425 bp with a guanine-cytosine (GC) content of 46.9%. We found 119 tRNA and 34 rRNA genes respectively in the genome, along with 4,352 predicted protein sequences. Virulence factor (VF) analysis further revealed that V. vulnificus 1908-10 possess various virulence genes in classes of adherence, antiphagocytosis, chemotaxis and motility, iron uptake, quorum sensing, secretion system, and toxin. In the comparison of the presence/absence of virulence genes, V. vulnificus 1908-10 had fur, hlyU, luxS, ompU, pilA, pilF, rtxA, rtxC, and vvhA. Of the 30 V. vulnificus comparative strains, 80% of the C-genotype strains have all of these genes, whereas 40% of the E-genotype strains have all of them. In particular, pilA were identified in 80% of the C-type strains and 40% of the E-type strains, showing more difference than other genes. Therefore, V. vulnificus 1908-10 had similar VF characteristics to those of type C strains. Multifunctional-autoprocessing repeats-in-toxin (MARTX) toxin of V. vulnificus 1908-10 contained 8 A-type repeats (GXXGXXXXXG), 25 B.1-type repeats (TXVGXGXX), 18 B2-type repeats (GGXGXDXXX), and 7 C-type repeats (GGXGXDXXX). The National Center for Biotechnology Information (NCBI) Basic Local Alignment Search Tool (BLAST) showed that the RtxA protein of V. vulnificus 1908-10 had the effector domain in the order of cross-liking domain (ACD)-C58_PaToxP-like domain- α/β hydrolase-C58_PaToxP-like domain.

Current status of Brassica A genome analysis (Brassica A genome의 최근 연구 동향)

  • Choi, Su-Ryun;Kwon, Soo-Jin
    • Journal of Plant Biotechnology
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    • v.39 no.1
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    • pp.33-48
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    • 2012
  • As a scientific curiosity to understand the structure and the function of crops and experimental efforts to apply it to plant breeding, genetic maps have been constructed in various crops. Especially, in the case of Brassica crop, genetic mapping has been accelerated since genetic information of model plant $Arabidopsis$ was available. As a result, the whole $B.$ $rapa$ genome (A genome) sequencing has recently been done. The genome sequences offer opportunities to develop molecular markers for genetic analysis in $Brassica$ crops. RFLP markers are widely used as the basis for genetic map construction, but detection system is inefficiency. The technical efficiency and analysis speed of the PCR-based markers become more preferable for many form of $Brassica$ genome study. The massive sequence informative markers such as SSR, SNP and InDels are also available to increase the density of markers for high-resolution genetic analysis. The high density maps are invaluable resources for QTLs analysis, marker assisted selection (MAS), map-based cloning and comparative analysis within $Brassica$ as well as related crop species. Additionally, the advents of new technology, next-generation technique, have served as a momentum for molecular breeding. Here we summarize genetic and genomic resources and suggest their applications for the molecular breeding in $Brassica$ crop.

Phylogeographic and population genetic study of a Korean endemic freshwater fish species, Zacco koreanus (한국 고유 담수어종 참갈겨니(Zacco koreanus) 개체군의 계통지리학 및 집단유전학 연구)

  • Kim, Yu Rim;Jang, Ji Eun;Choi, Hee-kyu;Lee, Hyuk Je
    • Korean Journal of Environmental Biology
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    • v.38 no.4
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    • pp.650-657
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    • 2020
  • We conducted a phylogeographic analysis of Korean endemic Zacco koreanus populations inhabiting the East-flowing river (Gangneung Yeongokcheon; GY, Yangyang Namdaecheon; YN), the Han River (Seomgang; SG, Soksacheon; SS), and the Nakdong River(Gilancheon; GA) using the mitochondrial DNA cytochrome oxidase I (COI) gene (619 bp). Population genetic analysis was further performed to assess the population connectivity for the GY river where there is a large number of human-made artificial weirs with several fishways. The phylogeographic analysis revealed that while the populations of the East-flowing river and those of the Han River formed a monophyletic lineage, the Nakdong River individuals represented a distinct lineage with 3.7-4.2% (mean=4.0%) genetic distance from the other lineages. The population genetic analysis of the GY showed that a mid-stream population harbored relatively higher mitochondrial diversity relative to up- and down-stream populations, and there was no genetic differentiation between these three populations. The latter findings might suggest high genetic connectivity between the populations via genetic flow along the fishways. However, an analysis using faster-evolving genetic markers, such as microsatellites, is needed to confirm the findings of high population connectivity. Our study suggests the possibility of the presence of cryptic species in Z. koreanus in the Nakdong River basin. However, further study with more individual samples as well as additional markers or even more advanced genomic tools is required to test our hypothesis. Ecological or phenotypic analyses should be conducted to test whether the observed Nakdong River lineage represents a different or cryptic species, or simply hidden, but excessive, intraspecific diversity.

Analysis of the ADSF/resistin Gene Polymorphism Associated with Carcass Traits in Hanwoo (한우 ADSF/resistin 유전자의 단일 염기 다형과 육질관련형질 상관 분석)

  • Park, J.A.;Kang, H.K.;Chae, E.J.;Seo, K.S.;Kim, S.H.;Yun, C.H.;Moon, Y.S.
    • Journal of Animal Science and Technology
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    • v.49 no.5
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    • pp.577-584
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    • 2007
  • Adipocyte-specific secretory factor(ADSF)/resistin, an hormone, is a small cysteine-rich protein secreted from adipose tissue and ADSF/resistin has been implicated in modulating adipogenesis in human and rodents. Although the exact role of ADSF/resistin in bovine has not been identified, it may have directly or indirectly involved in adipocyte differentiation. The objective of this study was to investigate its DNA polymorphism associated with carcass traits in Korean Native Cattle(Hanwoo). To investigate DNA polymorphism in Hanwoo ADSF/resistin gene, blood samples were taken from 295 Hanwoo steers belonging to progeny testing at Hanwoo Improvement Center in Korea. Seven single nucleotide polymorphisms(SNPs) were found in intron regions but not in any other regions including promoter (1.7kb) and 4 exons. The highest frequency among SNPs was C186A(0.16/0.84) following G964A (0.156/0.884). The significant correlation(P<0.05) between the SNPs and economic traits was found on 764Ains associated with marbling but not from any other SNPs determined.  A computer simulation was also conducted to assess the efficiency of marker assisted selection(MAS) versus the conventional breeding scheme.  Results revealed that MAS was more efficient as a breeding tool compared to the conventional. In conclusion, ADSF/Resistin gene is one of candidate genes to evaluate the quality, especially marbling score, in Hanwoo.

QTL analysis of agronomic traits in recombinant inbred lines of sunflower under partial irrigation

  • Haddadi, P.;Yazdi-Samadi, B.;Naghavi, M.R.;Kalantari, A.;Maury, P.;Sarrafi, A.
    • Plant Biotechnology Reports
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    • v.5 no.2
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    • pp.135-146
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    • 2011
  • The objective of the present research was to map QTLs associated with agronomic traits such as days from sowing to flowering, plant height, yield and leaf-related traits in a population of recombinant inbred lines (RILs) of sunflower (Helianthus annuus). Two field experiments were conducted with well-irrigated and partially irrigated conditions in randomized complete block design with three replications. A map with 304 AFLP and 191 SSR markers with a mean density of 1 marker per 3.7 cM was used to identify QTLs related to the studied traits. The difference among RILs was significant for all studied traits in both conditions. Three to seven QTLs were found for each studied trait in both conditions. The percentage of phenotypic variance ($R^2$) explained by QTLs ranged from 4 to 49%. Three to six QTLs were found for each yield-related trait in both conditions. The most important QTL for grain yield per plant on linkage group 13 (GYP-P-13-1) under partial-irrigated condition controls 49% of phenotypic variance ($R^2$). The most important QTL for 1,000-grain weight (TGW-P-11-1) was identified on linkage group 11. Favorable alleles for this QTL come from RHA266. The major QTL for days from sowing to flowering (DSF-P-14-1) were observed on linkage group 14 and explained 38% of the phenotypic variance. The positive alleles for this QTL come from RHA266. The major QTL for HD (HD-P-13-1) was also identified on linkage group 13 and explained 37% of the phenotypic variance. Both parents (PAC2 and RHA266) contributed to QTLs controlling leaf-related traits in both conditions. Common QTL for leaf area at flowering (LAF-P-12-1, LAF-W-12-1) was detected in linkage group 12. The results emphasise the importance of the role of linkage groups 2, 10 and 13 for studied traits. Genomic regions on the linkage groups 9 and 12 are specific for QTLs of leaf-related traits in sunflower.

Molecular and Biochemical Characterization of a Novel Xylanase from Massilia sp. RBM26 Isolated from the Feces of Rhinopithecus bieti

  • Xu, Bo;Dai, Liming;Li, Junjun;Deng, Meng;Miao, Huabiao;Zhou, Junpei;Mu, Yuelin;Wu, Qian;Tang, Xianghua;Yang, Yunjuan;Ding, Junmei;Han, Nanyu;Huang, Zunxi
    • Journal of Microbiology and Biotechnology
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    • v.26 no.1
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    • pp.9-19
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    • 2016
  • Xylanases sourced from different bacteria have significantly different enzymatic properties. Therefore, studying xylanases from different bacteria is important to their applications in different fields. A potential xylanase degradation gene in Massilia was recently discovered through genomic sequencing. However, its xylanase activity remains unexplored. This paper is the first to report a xylanase (XynRBM26) belonging to the glycosyl hydrolase family (GH10) from the genus Massilia. The gene encodes a 383-residue polypeptide (XynRBM26) with the highest identity of 62% with the endoxylanase from uncultured bacterium BLR13. The XynRBM26 expressed in Escherichia coli BL21 is a monomer with a molecular mass of 45.0 kDa. According to enzymatic characteristic analysis, pH 5.5 is the most appropriate for XynRBM26, which could maintain more than 90% activity between pH 5.0 and 8.0. Moreover, XynRBM26 is stable at 37℃ and could maintain at least 96% activity after being placed at 37℃ for 1 h. This paper is the first to report that GH10 xylanase in an animal gastrointestinal tract (GIT) has salt tolerance, which could maintain 86% activity in 5 M NaCl. Under the optimum conditions, Km, Vmax, and kcat of XynRBM26 to beechwood xylan are 9.49 mg/ml, 65.79 μmol/min/mg, and 47.34 /sec, respectively. Considering that XynRBM26 comes from an animal GIT, this xylanase has potential application in feedstuff. Moreover, XynRBM26 is applicable to high-salt food and seafood processing, as well as other high-salt environmental biotechnological fields, because of its high catalytic activity in high-concentration NaCl.

Genetic Diversity of Agaricus bisporus Strains by PCR Polymorphism (PCR 다형성에 의한 양송이(Agaricus bisporus) 계통의 유전적 다양성 분석)

  • Min, Kyong-Jin;Kim, Jong-Kun;Kwak, A-Min;Kong, Won-Sik;Oh, Youn-Hee;Kang, Hee-Wan
    • The Korean Journal of Mycology
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    • v.42 no.1
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    • pp.1-8
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    • 2014
  • Twelve Universal fungal PCR fingerprint (UFPF) primers that were modified from Universal rice primer (URP) were used to assess genetic diversity of 64 Agaricus strains including 45 A. bisporus strains and other 19 strains of other Agaricus spp. Eight primers, UFPF1, UFPF2, UFPF3, UFPF7, UFPF9, UFPF10, UFPF11, and UFPF12 produced PCR polymorphic bands within and between the Agaricus species. Primer UFPF7 produced specific PCR polymorphic bands that are distinct Korean strain from different strains. Ninety five PCR polymorphic bands were inputted for UPGMA cluster analysis. Forty five strains of A. bisporus are genetically clustered into 8 groups, showing coefficient similarity from 0.75 to 0.9 among them. The varieties, Saea, Saedo, Saejeong and Saeyeon that have recently been developed in Korea were involved in the same group with close genetic relationship of coefficient similarity over 0.96, whereas, other Korean strains were genetically related to A. bisporus strains that were introduced from USA, Eroupe and Chinese.