• Title/Summary/Keyword: Candidate genes

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Genome-wide association analysis of nine reproduction and morphological traits in three goat breeds from Southern China

  • Xiaoyan, Sun;Jing, Jiang;Gaofu, Wang;Peng, Zhou;Jie, Li;Cancan, Chen;Liangjia, Liu;Nianfu, Li;Yuanyou, Xia;Hangxing, Ren
    • Animal Bioscience
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    • v.36 no.2
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    • pp.191-199
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    • 2023
  • Objective: This study aimed to investigate the significant single nucleotide polymorphisms (SNPs) and genes associated with nine reproduction and morphological traits in three breed populations of Chinese goats. Methods: The genome-wide association of nine reproduction and morphological traits (litter size, nipple number, wattle, skin color, coat color, black dorsal line, beard, beard length, and hind leg hair) were analyzed in three Chinese native goat breeds (n = 336) using an Illumina Goat SNP50 Beadchip. Results: A total of 17 genome-wide or chromosome-wide significant SNPs associated with one reproduction trait (litter size) and six morphological traits (wattle, coat color, black dorsal line, beard, beard length, and hind leg hair) were identified in three Chinese native goat breeds, and the candidate genes were annotated. The significant SNPs and corresponding putative candidate genes for each trait are as follows: two SNPs located on chromosomes 6 (CSN3) and 24 (TCF4) for litter size trait; two SNPs located on chromosome 9 (KATNA1) and 1 (UBASH3A) for wattle trait; three SNPs located on chromosome 26 (SORCS3), 24 (DYM), and 20 (PDE4D) for coat color trait; two SNPs located on chromosome 18 (TCF25) and 15 (CLMP) for black dorsal line trait; four SNPs located on chromosome 8, 2 (PAX3), 5 (PIK3C2G), and 28 (PLA2G12B and OIT3) for beard trait; one SNP located on chromosome 18 (KCNG4) for beard length trait; three SNPs located on chromosome 17 (GLRB and GRIA2), 28 (PGBD5), and 4 for hind leg hair trait. In contrast, there were no SNPs identified for nipple number and skin color. Conclusion: The significant SNPs or genes identified in this study provided novel insights into the genetic mechanism underlying important reproduction and morphological traits of three local goat breeds in Southern China as well as further potential applications for breeding goats.

Hereditary Genes and SNPs Associated with Breast Cancer

  • Mahdi, Kooshyar Mohammad;Nassiri, Mohammad Reza;Nasiri, Khadijeh
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.6
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    • pp.3403-3409
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    • 2013
  • Breast cancer is the most common cancer among women affecting up to one third of tehm during their lifespans. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence. Since mutations that are recognized to increase breast cancer risk within families are quite rare, identification of these SNPs is very important. The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1. Presence of SNPs in these genes increases the risk of breast cancer and associated diagnostic markers are among the most reliable for assessing prognosis of breast cancer. In this article we reviewed the hereditary genes of breast cancer and SNPs associated with increasing the risk of breast cancer that were recently were reported from candidate gene, meta-analysis and GWAS studies. SNPs of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.

Prediction of Genes Lacking in an Ammonia Oxidizing Archaeon for Independent Growth (암모니아 산화 고세균의 독립성장에 필요한 결손 유전자 예측)

  • Han, Sang-Soo;Lee, Jin-Young;Rhee, Sung-Keun;Kim, Geun-Joong
    • KSBB Journal
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    • v.26 no.3
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    • pp.237-242
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    • 2011
  • As a number of archaea are ubiquitously found in non-extreme habitats, elucidation of their functional roles becomes currently an emerging issue. However, most of them are unable to grow in pure culture and so it remains to be established. In order to find genes lacking in the genome of an ammonia-oxidizing archaeon (AOA), we here report on the comparative analyses of an AOA genome with those of experimentally or theoretically established minimal genomes for independent growth. We assessed the genes lacking in AOA using logic of clusters of orthologous groups (COG), remote homology, consensus sequence weight matrix, function-based motif or domain, and then further excluded genes encoding hypothetical orarchaea-specific proteins. The results of these combination analyses revealed 19 candidate genes lacking in the genome of an AOA. Thus, our results provide a possibility of inducing independent growth of AOA when supplemented with product (s) of the lacking gene (s), and also give a chance for finding new proteins with novel sequence or structure space even if the predicted lacking-genes will be found using another algorithms or biochemical studies.

Identification of Differentially Expressed Genes in Human Mesenchymal Stem Cell-Derived Neurons

  • Heo, Ji-Hye;Cho, Kyung-Jin;Choi, Dal-Woong;Kim, Suhng-Wook
    • Toxicological Research
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    • v.26 no.1
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    • pp.15-19
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    • 2010
  • Mesenchymal stem cells (MSCs) have greater potential for immediate clinical and toxicological applications, due to their ability to self-renew, proliferate, and differentiate into a variety of cell types. To identify novel candidate genes that were specifically expressed during transdifferentiation of human MSCs to neuronal cells, we performed a differential expression analysis with random priming approach using annealing control primer-based differential display reverse transcription-polymerase chain reaction approach. We identified genes for acyl-CoA thioesterase, tissue inhibitor of metalloproteinases-1, brain glycogen phosphorylase, ubiquitin C-terminal hydrolase and aldehyde reductase were up-regualted, whereas genes for transgelin and heparan sulfate proteoglycan were down-regulated in MSC-derived neurons. These differentially expressed genes may have potential role in regulation of neurogenesis. This study could be applied to environmental toxicology in the field of testing the toxicity of a chemical or a physical agent.

Calcium-related genes associated with intracellular calcification of Emiliania huxleyi (Haptophyta) CCMP 371

  • Nam, Onyou;Shiraiwa, Yoshihiro;Jin, EonSeon
    • ALGAE
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    • v.33 no.2
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    • pp.181-189
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    • 2018
  • Emiliania huxleyi (a haptophyte) is the most abundant coccolithophore species that produces delicate calcite scales called coccoliths. In this study, we identified several candidate genes associated with coccolith production by comparing the transcriptomes of the calcifying (CCMP 371) and non-calcifying (CCMP 2090) strains of E. huxleyi. Among the candidates, genes highly expressed in CCMP 371 were identified. To confirm whether these genes are associated with calcification, we modulated coccolith production in CCMP 371 by culturing it at different calcium concentrations. At an ambient (10 mM) concentration of calcium in the growth medium, CCMP 371 sustained its calcifying ability. However, at a low (0.1 mM) concentration or absence of calcium, there was no calcite formation, demonstrating that calcium-limiting conditions negatively affect calcification. We also evaluated the expression patterns of the putative genes in cells grown at different calcium concentrations by quantitative reverse transcription polymerase chain reaction. In addition, we showed that the growth rate of cells cultured under calcium-limiting conditions does not differ from that under ambient conditions. Further studies are required to investigate the roles of the putative calcification-associated genes at the molecular level.

Identifying literature-based significant genes and discovering novel drug indications on PPI network

  • Park, Minseok;Jang, Giup;Lee, Taekeon;Yoon, Youngmi
    • Journal of the Korea Society of Computer and Information
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    • v.22 no.3
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    • pp.131-138
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    • 2017
  • New drug development is time-consuming and costly. Hence, it is necessary to repurpose old drugs for finding new indication. We suggest the way that repurposing old drug using massive literature data and biological network. We supposed a disease-drug relationship can be available if signal pathways of the relationship include significant genes identified in literature data. This research is composed of three steps-identifying significant gene using co-occurrence in literature; analyzing the shortest path on biological network; and scoring a relationship with comparison between the significant genes and the shortest paths. Based on literatures, we identify significant genes based on the co-occurrence frequency between a gene and disease. With the network that include weight as possibility of interaction between genes, we use shortest paths on the network as signal pathways. We perform comparing genes that identified as significant gene and included on signal pathways, calculating the scores and then identifying the candidate drugs. With this processes, we show the drugs having new possibility of drug repurposing and the use of our method as the new method of drug repurposing.

Genetic Analysis of Wheat for Plant Height by RNA-seq Analysis of Wheat Cultivars 'Keumkang' and 'Komac 5'

  • Moon Seok Kim;Jin Seok Yoon;Yong Weon Seo
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.275-275
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    • 2022
  • One of the most widely grown food crops in the world, wheat, is increasing more lodged since for increased rains and winds caused by abnormal climate. During the Green Revolution, shorter wheat cultivars were bred using many Rht genes to increase lodging resistance. However, since only some Rht genes were used for breeding shorter wheat, it may have had a limited impact on wheat breeding and reduced genetic diversity. Therefore, it is essential to search for genes that have breeding potential and affect dwarfism in order to increase the genetic diversity of dwarf characteristics in wheat. In this study, we performed the RNA-seq between 'Keumkang' and 'Komac 5' ('Keumkang' mutant) to analyze the difference in plant height. Differentially expressed genes (DEGs) analysis and Gene function annotation were performed using 265,365,558 mapped reads. Cluster set analysis was performed to compress and select candidate gene DEGs affecting plant height, stem and internode. Gene expression analysis was performed in order to identify the functions of the selected genes by condensing the results of the DEG analysis into a cluster set analysis. This analysis of these plant height-related genes could help reduce plant height, improve lodging resistance, and increase wheat yield. Its application to wheat breeding will also affect the increased genetic diversity of wheat dwarfism.

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Association and Polymorphism of Porcine Candidate Genes with Breeding Values in Litter Size of Large Yorkshire and Landrace Inbred Lines (대요크샤 및 랜드레이스종 근교계통돈의 총산자수와 후보유전자에 대한 다형성과 육종가 간의 연관성 분석)

  • Kim, Myung-Jick;Cho, Kyu-Ho;Kim, Doo-Wan;So, Kyung-Min;Choi, Bong-Hwan;Kim, In-Cheul
    • Reproductive and Developmental Biology
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    • v.35 no.3
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    • pp.247-250
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    • 2011
  • The objective of this study was to find out candidate genes associated with litter size trait in pigs of inbred Large Yorkshire and Landrace populations. 86 sows were screened for candidate genotypes along with litter size data recordings. Association of litter size with genotypes of candidate genes were investigated to verify the usefulness of each gene's genotypes as markers for the trait. For the lines of Large Yorkshire, PRLR3 and RBP4 genes were genotyped. Frequency distribution of PRLR3 with genotypes AA, AB and BB were each 0.14, 0.44 and 0.42. And the average litter size by PRLR3 genotypes were 8.83, 10.81 and 10.70 piglets per litter, the average estimated breeding values of which were 0.243, 0.332, 0.365, respectively for AA, AB and BB genotypes. Genotypic frequencies of RBP4 by AA, AB and BB genotypes were 0.10, 0.44 and 0.46. The average litter size by genotypes of RBP4 were 10.40, 10.57 and 10.35 piglets per litter and their corresponding average estimated breeding values were 0.451, 0.353 and 0.261, respectively for genotypes AA, AB and BB. Significance in differences among genotypes were not observed, but B allele of RBP4 seems to be associated with litter size. In Landrace lines, frequencies of RBP4 genotypes, AA, AB and BB were 0.29, 0.55 and 0.16. And the average litter size of these genotypes were 10.50, 11.08 and 11.00 piglets per litter. The corresponding averages of estimated breeding values of each genotypes were 0.172, 0.135 and 0.104. In Landrace lines, allele A was more likely to be associated with litter size, even if differences among average litter size were not significant. We conclude that genotyping of two candidate genes is a helpful tool to identify genetic potentials of litter size in pigs.