• Title/Summary/Keyword: Candidate genes

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Identification of growth trait related genes in a Yorkshire purebred pig population by genome-wide association studies

  • Meng, Qingli;Wang, Kejun;Liu, Xiaolei;Zhou, Haishen;Xu, Li;Wang, Zhaojun;Fang, Meiying
    • Asian-Australasian Journal of Animal Sciences
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    • v.30 no.4
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    • pp.462-469
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    • 2017
  • Objective: The aim of this study is to identify genomic regions or genes controlling growth traits in pigs. Methods: Using a panel of 54,148 single nucleotide polymorphisms (SNPs), we performed a genome-wide Association (GWA) study in 562 pure Yorshire pigs with four growth traits: average daily gain from 30 kg to 100 kg or 115 kg, and days to 100 kg or 115 kg. Fixed and random model Circulating Probability Unification method was used to identify the associations between 54,148 SNPs and these four traits. SNP annotations were performed through the Sus scrofa data set from Ensembl. Bioinformatics analysis, including gene ontology analysis, pathway analysis and network analysis, was used to identify the candidate genes. Results: We detected 6 significant and 12 suggestive SNPs, and identified 9 candidate genes in close proximity to them (suppressor of glucose by autophagy [SOGA1], R-Spondin 2 [RSPO2], mitogen activated protein kinase kinase 6 [MAP2K6], phospholipase C beta 1 [PLCB1], rho GTPASE activating protein 24 [ARHGAP24], cytoplasmic polyadenylation element binding protein 4 [CPEB4], GLI family zinc finger 2 [GLI2], neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 [NYAP2], and zinc finger protein multitype 2 [ZFPM2]). Gene ontology analysis and literature mining indicated that the candidate genes are involved in bone, muscle, fat, and lung development. Pathway analysis revealed that PLCB1 and MAP2K6 participate in the gonadotropin signaling pathway and suggests that these two genes contribute to growth at the onset of puberty. Conclusion: Our results provide new clues for understanding the genetic mechanisms underlying growth traits, and may help improve these traits in future breeding programs.

Screening of Ecotoxicant Responsive Genes and Expression Analysis of Benzo[a]pyrene-exposed Rockfish (Sebastes schlgeli)

  • Yum, Seung-Shic;Woo, Seon-Ock;Lee, Taek-Kyun
    • Molecular & Cellular Toxicology
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    • v.2 no.2
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    • pp.114-119
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    • 2006
  • Benzo[a]pyrene is a representative ecotoxicant in marine environment and a model compound of polycyclic aromatic hydrocarbons, which has an ability to bioaccumulate in aquatic organisms. This study aimed to identify molecular biomarkers suitable for assessing environmental pollution using a microarray technique. We examined the effects of benzo[a]pyrene on gene expressions in the rockfish, Sebastes schlegeli. We constructed the subtractive cDNA library with hepatic RNA from benzo[a]pyrene-exposed and non-exposed control fish. From the library 10,000 candidate clones were selected randomly and cDNA microarray was constructed. We determined benzo[a]pyrene-responsive genes using a high-density microarray. Statistical analysis showed that approximately 400 genes are significantly induced or reduced by benzo[a]pyrene treatment ($2\;{\mu}m$). Especially gene expression changes of 4 candidate clones among the up- or down-regulated genes were investigated in 6, 12 and 24 hr BaP-exposed fish groups. Many methods have been developed to monitor marine environmental status, which depend on quantifying the levels of the toxic components in polluted seawater or on ecological accessing, such as species diversity or richness. However, those methods could not provide information on physiological or genetic changes induced by such environmental stresses. Comparing with the conventional methods, these data will propose that benzo[a]pyrene-responsive genes can be useful for biological risk assessment of polycyclic aromatic hydrocarbons on marine organism at molecular level.

Expression profiles of microRNAs in skeletal muscle of sheep by deep sequencing

  • Liu, Zhijin;Li, Cunyuan;Li, Xiaoyue;Yao, Yang;Ni, Wei;Zhang, Xiangyu;Cao, Yang;Hazi, Wureli;Wang, Dawei;Quan, Renzhe;Yu, Shuting;Wu, Yuyu;Niu, Songmin;Cui, Yulong;Khan, Yaseen;Hu, Shengwei
    • Asian-Australasian Journal of Animal Sciences
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    • v.32 no.6
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    • pp.757-766
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    • 2019
  • Objective: MicroRNAs are a class of endogenous small regulatory RNAs that regulate cell proliferation, differentiation and apoptosis. Recent studies on miRNAs are mainly focused on mice, human and pig. However, the studies on miRNAs in skeletal muscle of sheep are not comprehensive. Methods: RNA-seq technology was used to perform genomic analysis of miRNAs in prenatal and postnatal skeletal muscle of sheep. Targeted genes were predicted using miRanda software and miRNA-mRNA interactions were verified by quantitative real-time polymerase chain reaction. To further investigate the function of miRNAs, candidate targeted genes were enriched for analysis using gene ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) enrichment. Results: The results showed total of 1,086 known miRNAs and 40 new candidate miRNAs were detected in prenatal and postnatal skeletal muscle of sheep. In addition, 345 miRNAs (151 up-regulated, 94 down-regulated) were differentially expressed. Moreover, miRanda software was performed to predict targeted genes of miRNAs, resulting in a total of 2,833 predicted targets, especially miR-381 which targeted multiple muscle-related mRNAs. Furthermore, GO and KEGG pathway analysis confirmed that targeted genes of miRNAs were involved in development of skeletal muscles. Conclusion: This study supplements the miRNA database of sheep, which provides valuable information for further study of the biological function of miRNAs in sheep skeletal muscle.

Identification of stemness and differentially expressed genes in human cementum-derived cells

  • Lee, EunHye;Kim, Young-Sung;Lee, Yong-Moo;Kim, Won-Kyung;Lee, Young-Kyoo;Kim, Su-Hwan
    • Journal of Periodontal and Implant Science
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    • v.51 no.5
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    • pp.329-341
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    • 2021
  • Purpose: Periodontal treatment aims at complete regeneration of the periodontium, and developing strategies for periodontal regeneration requires a deep understanding of the tissues composing the periodontium. In the present study, the stemness characteristics and gene expression profiles of cementum-derived cells (CDCs) were investigated and compared with previously established human stem cells. Candidate marker proteins for CDCs were also explored. Methods: Periodontal ligament stem cells (PDLSCs), pulp stem cells (PULPSCs), and CDCs were isolated and cultured from extracted human mandibular third molars. Human bone marrow stem cells (BMSCs) were used as a positive control. To identify the stemness of CDCs, cell differentiation (osteogenic, adipogenic, and chondrogenic) and surface antigens were evaluated through flow cytometry. The expression of cementum protein 1 (CEMP1) and cementum attachment protein (CAP) was investigated to explore marker proteins for CDCs through reverse-transcription polymerase chain reaction. To compare the gene expression profiles of the 4 cell types, mRNA and miRNA microarray analysis of 10 samples of BMSCs (n=1), PDLSCs (n=3), PULPSCs (n=3), and CDCs (n=3) were performed. Results: The expression of mesenchymal stem cell markers with a concomitant absence of hematopoietic markers was observed in PDLSCs, PULPSCs, CDCs and BMSCs. All 4 cell populations also showed differentiation into osteogenic, adipogenic, and chondrogenic lineages. CEMP1 was strongly expressed in CDCs, while it was weakly detected in the other 3 cell populations. Meanwhile, CAP was not found in any of the 4 cell populations. The mRNA and miRNA microarray analysis showed that 14 mRNA genes and 4 miRNA genes were differentially expressed in CDCs vs. PDLSCs and PULPSCs. Conclusions: Within the limitations of the study, CDCs seem to have stemness and preferentially express CEMP1. Moreover, there were several up- or down-regulated genes in CDCs vs. PDLSCs, PULPSCs, and BMSCs and these genes could be candidate marker proteins of CDCs.

Genome-wide association study for the free amino acid and nucleotide components of breast meat in an F2 crossbred chicken population

  • Minjun Kim;Eunjin Cho;Jean Pierre Munyaneza;Thisarani Kalhari Ediriweera;Jihye Cha;Daehyeok Jin;Sunghyun Cho;Jun Heon Lee
    • Journal of Animal Science and Technology
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    • v.65 no.1
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    • pp.57-68
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    • 2023
  • Flavor is an important sensory trait of chicken meat. The free amino acid (FAA) and nucleotide (NT) components of meat are major factors affecting meat flavor during the cooking process. As a genetic approach to improve meat flavor, we performed a genome-wide association study (GWAS) to identify the potential candidate genes related to the FAA and NT components of chicken breast meat. Measurements of FAA and NT components were recorded at the age of 10 weeks from 764 and 767 birds, respectively, using a White leghorn and Yeonsan ogye crossbred F2 chicken population. For genotyping, we used 60K Illumina single-nucleotide polymorphism (SNP) chips. We found a total of nine significant SNPs for five FAA traits (arginine, glycine, lysine, threonine content, and the essential FAAs and one NT trait (inosine content), and six significant genomic regions were identified, including three regions shared among the essential FAAs, arginine, and inosine content traits. A list of potential candidate genes in significant genomic regions was detected, including the KCNRG, KCNIP4, HOXA3, THSD7B, and MMUT genes. The essential FAAs had significant gene regions the same as arginine. The genes related to arginine content were involved in nitric oxide metabolism, while the inosine content was possibly affected by insulin activity. Moreover, the threonine content could be related to methylmalonyl-CoA mutase. The genes and SNPs identified in this study might be useful markers in chicken selection and breeding for chicken meat flavor.

Genetic Insights into Domestication Loci Associated with Awn Development in Rice

  • Ngoc Ha Luong;Sangshetty G. Balkunde;Kyu-Chan Shim;Cheryl Adeva;Hyun-Sook Lee;Hyun-Jung Kim;Sang-Nag Ahn
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.33-33
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    • 2022
  • Rice (Oryza sativa L.) is a widely studied domesticated model plant. Seed awning is an unfavorable trait during rice harvesting and processing. Hence, awn was one of the target characters selected during domestication. However, the genetic mechanisms underlying awn development in rice are not well understood. In this study, we analyzed the genes for awn development using a mapping population derived from a cross between the Korean indica cultivar 'Milyang23' and NIL4/9 (derived from a cross between 'Hwaseong' and O. minuta). Two quantitative trait loci (QTLs), qAwn4 and qAwn9 were mapped on chromosome 4 and 9, respectively, increased awn length in an additive manner. Through comparative sequencing analyses parental lines, LABA1 was determined as the causal gene underlying qAwn4. qAwn9 was mapped to a 199-kb physical region between markers RM24663 and RM24679. Within this interval, 27 annotated genes were identified, and five genes, including a basic leucine zipper transcription factor 76 (OsbZIP76), were considered candidate genes for qAwn9 based on their functional annotations and sequence variations. Haplotype analysis using the candidate genes revealed tropical japonica specific sequence variants in the qAwn9 region, which partly explains the non-detection of qAwn9 in previous studies that used progenies from interspecific crosses. This provides further evidence that OsbZIP76 is possibly a causal gene for qAwn9. The O. minuta qAwn9 allele was identified as a major QTL associated with awn development in rice, providing an important molecular target for basic genetic research and domestication studies. Our results lay the foundation for further cloning of the awn gene underlying qAwn9.

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Ranking Candidate Genes for the Biomarker Development in a Cancer Diagnostics

  • Kim, In-Young;Lee, Sun-Ho;Rha, Sun-Young;Kim, Byung-Soo
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2004.11a
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    • pp.272-278
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    • 2004
  • Recently, Pepe et al. (2003) employed the receiver operating characteristic (ROC) approach to rank candidate genes from a microarray experiment that can be used for the biomarker development with the ultimate purpose of the population screening of a cancer, In the cancer microarray experiment based on n patients the researcher often wants to compare the tumor tissue with the normal tissue within the same individual using a common reference RNA. This design is referred to as a reference design or an indirect design. Ideally, this experiment produces n pairs of microarray data, where each pair consists of two sets of microarray data resulting from reference versus normal tissue and reference versus tumor tissue hybridizations. However, for certain individuals either normal tissue or tumor tissue is not large enough for the experimenter to extract enough RNA for conducting the microarray experiment, hence there are missing values either in the normal or tumor tissue data. Practically, we have $n_1$ pairs of complete observations, $n_2$ 'normal only' and $n_3$ 'tumor only' data for the microarray experiment with n patients, where n=$n_1$+$n_2$+$n_3$. We refer to this data set as a mixed data set, as it contains a mix of fully observed and partially observed pair data. This mixed data set was actually observed in the microarray experiment based on human tissues, where human tissues were obtained during the surgical operations of cancer patients. Pepe et al. (2003) provide the rationale of using ROC approach based on two independent samples for ranking candidate gene instead of using t or Mann -Whitney statistics. We first modify ROC approach of ranking genes to a paired data set and further extend it to a mixed data set by taking a weighted average of two ROC values obtained by the paired data set and two independent data sets.

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Evaluation of BTA1 and BTA5 QTL Regions for Growth and Carcass Traits in American and Korean Cattle

  • Kim, K.S.;Kim, S.W.;Raney, N.E.;Ernst, C.W.
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.11
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    • pp.1521-1528
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    • 2012
  • Previously identified QTL regions on BTA1 and BTA5 were investigated to validate the QTL regions and to identify candidate genes for growth and carcass traits in commercial cattle populations from the USA and Korea. Initially, a total of 8 polymorphic microsatellite (MS) markers in the BTA1 and 5 QTL regions were used for Chi-square tests to compare the frequencies of individual alleles between high and low phenotypic groups for the US (Michigan Cattleman's Association/Michigan State University; MCA/MSU) cattle. For a subsequent study, 24 candidate genes containing missense mutations and located within the QTL regions based on bovine genome sequence data were analyzed for genotyping in the two commercial cattle populations. Re-sequencing analyses confirmed 18 public missense SNPs and identified 9 new SNPs. Seventeen of these SNPs were used for genotyping of the MCA/MSU cattle (n = 98) and Korean native cattle (n = 323). On BTA1, UPK1B, HRG, and MAGEF1 polymorphisms residing between BM1312 and BMS4048 were significantly associated with growth and carcass traits in one or both of the MCA/MSU and Korean populations. On BTA5, ABCD2, IL22 and SNRPF polymorphisms residing between BL4 and BR2936 were associated with marbling and backfat traits in one or both of the MCA/MSU and Korean cattle populations. These results suggested that BTA 1 and 5 QTL regions may be segregating in both Korean Hanwoo and USA commercial cattle populations and DNA markers tested in this study may contribute to the identification of positional candidate genes for marker-assisted selection programs.

Genetic Variations of Eight Candidate Genes in Korean Obese Group

  • Kang, Byung-Youn;Lee, Kang-Oh;Bae, Joon-Seol;Kim, Ki-Tae;Yoon, Moon-Young;Lim, Seok-Rhin;Seo, Sang-Beom;Shin, Jung-Hee;Lee, Chung-Choo
    • Environmental Mutagens and Carcinogens
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    • v.22 no.1
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    • pp.39-46
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    • 2002
  • Obesity is a complex metabolic disorder with a strong genetic component. There are many candidate genes for obesity and its related phenotypes. We studied genetic variations between Korean obese and lean groups. Polymorphisms investigated were the Msp I polymorphism of the $\alpha$$_{2A}$-adrenergic receptor ($\alpha$$_{2A}$-AR) gene, the Mnl I polymorphism of the $\alpha$$_2$-adrenergic receptor ($\alpha$$_2$-AR) gene, the BstO I polymorphism of the $\beta$$_3$-adrenergic receptor ($\beta$$_3$-AR) gene, the Pml I polymorphism of the lamin A/C (LMNA) gene, the Hga I polymorphism of the clearance receptor (NPRC) gene, the Msp I polymorphism of the leptin gene, BclI polymorphism of the uncoupling protein 1 (UCPI) gene and the Hha I polymorphism of the fatty acid binding protein 2 (FABP2) gene. Among these genetic markers, Pml I polymorphism at the LMNA gene and Bcl I polymorphism at the UCP1 gene were significantly associated with obesity. However, further studies are required whether thease findings are reproduced in large population, although two polymorphisms might be useful as genetic markers in the ethiology of obesity in Korean population.ion.

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Identification of relevant differential genes to the divergent development of pectoral muscle in ducks by transcriptomic analysis

  • Fan Li;Zongliang He;Yinglin Lu;Jing Zhou;Heng Cao;Xingyu Zhang;Hongjie Ji;Kunpeng Lv;Debing Yu;Minli Yu
    • Animal Bioscience
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    • v.37 no.8
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    • pp.1345-1354
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    • 2024
  • Objective: The objective of this study was to identify candidate genes that play important roles in skeletal muscle development in ducks. Methods: In this study, we investigated the transcriptional sequencing of embryonic pectoral muscles from two specialized lines: Liancheng white ducks (female) and Cherry valley ducks (male) hybrid Line A (LCA) and Line C (LCC) ducks. In addition, prediction of target genes for the differentially expressed mRNAs was conducted and the enriched gene ontology (GO) terms and Kyoto encyclopedia of genes and genomes signaling pathways were further analyzed. Finally, a protein-to-protein interaction network was analyzed by using the target genes to gain insights into their potential functional association. Results: A total of 1,428 differentially expressed genes (DEGs) with 762 being up-regulated genes and 666 being down-regulated genes in pectoral muscle of LCA and LCC ducks identified by RNA-seq (p<0.05). Meanwhile, 23 GO terms in the down-regulated genes and 75 GO terms in up-regulated genes were significantly enriched (p<0.05). Furthermore, the top 5 most enriched pathways were ECM-receptor interaction, fatty acid degradation, pyruvate degradation, PPAR signaling pathway, and glycolysis/gluconeogenesis. Finally, the candidate genes including integrin b3 (Itgb3), pyruvate kinase M1/2 (Pkm), insulin-like growth factor 1 (Igf1), glucose-6-phosphate isomerase (Gpi), GABA type A receptor-associated protein-like 1 (Gabarapl1), and thyroid hormone receptor beta (Thrb) showed the most expression difference, and then were selected to verification by quantitative real-time polymerase chain reaction (qRT-PCR). The result of qRT-PCR was consistent with that of transcriptome sequencing. Conclusion: This study provided information of molecular mechanisms underlying the developmental differences in skeletal muscles between specialized duck lines.