• Title/Summary/Keyword: DNA Polymorphism

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Genetic Polymorph isms and Haplotype Analysis of Sweet Taste Receptor TAS1R2 Gene in the Korean Population (한국인의 단맛수용체유전자 TAS1R2 다형성분석 및 일배체형 연구)

  • Lee, Hye-Jin;Bae, Jae-Woong;Kwon, Tae-Jun;SaGong, Bo-Rum;Kim, Un-Kyung
    • Journal of Life Science
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    • v.20 no.3
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    • pp.462-465
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    • 2010
  • Sweetness plays an important role in providing calories and promoting appetite for food. Since it has been known that genetic factor(s) is involved in individual differences in taste sensitivity in humans, this study aimed to examine genetic variations of the TAS1R2 gene, one of the components for tasting sweet compounds, by using DNA sequencing analysis from 98 unrelated Korean subjects. As a result, 12 different single nucleotide polymorphisms (SNPs) were identified in the hTAS1R2 gene and most of them were nonsynonymous. Also, two novel SNPs were found for the first time in this study. It was noted that the frequencies of these SNPs were common in the Korean population. 20 different haplotypes with coding SNPs (cSNPs) were also found in this study. Three out of these haplotypes were common, showing frequencies of > 10%. The repertoire and frequencies of cSNPs and haplotypes in the hTAS1R2 gene will provide information that will help identify a functional ligand receptor common in the Korean population.

Phylogenetic relationships of Lyophyllum decastes on the based of ITS region sequences and RAPD (잿빛만가닥버섯(Lyophyllum decastes)의 ITS 영역염기서열 및 RAPD에 의한 계통학적 유연관계 분석)

  • Woo, Sung-Mi;Park, Yong-Hwan;Yoo, Young-Bok;Shin, Pyung-Gyun;Jang, Kab Yeul;Jin, Yong-Ju;Sung, Jae-Mo
    • Journal of Mushroom
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    • v.7 no.3
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    • pp.98-104
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    • 2009
  • Phylogenetic relationships of Hypsizygus mamoreus and Lyophyllum decastes artificial cultivated using ITS sequences and RAPD polymorphism have been analyzed. Based on ITS region sequences of 14 strains, we could divide into 2 group as group1 to Hypsizygus mamoreus and the control isolated group2 to Lyophyllum decastes were identified as the same species. Restrict analysis of rDNA ITS region which was amplified by PCR, 14 collected strains could be classified into 4 clusters. There was approximately 58% genetic similarity between cluster I(SPA 100, 101, 102) and cluster II(SPA 200, 208 and SPA 201, 202), 41% between cluster III(SPA 104, 103, 203) and cluster IV(SPA 204, 206, 207, 205) by BLAST analysis. RAPD polymorphisms were used to analyze the species diversity of artificially cultivated Lyophyllum decastes SPA 202. As a result, similarity between SPA 202 and SPA 203 was 75%, at the same time, similarity between SPA 202 and Pleurotus eryngii SPA 103 and SPA 104 was 65%.

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Polymorphisms of CDH9 and CDH10 in Chromosome 5p14 Associated with Autism in the Korean Population (한국인 자폐증과 Chromosome 5p14에 존재하는 CDH9, CDH10 유전자 다형성의 연관성 연구)

  • Lee, Ae-Ri;Park, Jung-Won;Nam, Min;Bang, Hee-Jung;Yang, Jae-Won;Choi, Kyung-Sik;Kim, Su-Kang;Chung, Joo-Ho;Kwack, Kyu-Bum
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.22 no.4
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    • pp.287-293
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    • 2011
  • Objectives : The region of chromosome 5p14 is known to be associated with autism spectrum disorder (ASD). The cadherin9 (CDH9) and cadherin10 (CDH10) genes are located in the region of chromosome 5p14 and reported to be associated with ASD in the Caucasian population. We performed an association study to identify if single nucleotide polymorphisms (SNPs) located on the CDH9 and CDH10 genes are associated in the Korean population. Methods : Genomic DNA was extracted from the blood of 214 patients with ASD and 258 controls. SNPs selected from two genes were genotyped using an Illumina Golden-Gate Genotyping assay with VeraCode technology. Statistical analysis was performed using SAS and Plink software. Results : All controls and ASD patients were in Hardy-Weinberg equilibrium. In the results of logistic regression analyses for the genotype model and the chi-square test for the allele model, we found that SNPs on the CDH9 and CDH10 genes were not associated with ASD. Conclusion : Our data suggests that the CDH9 and CDH10 genes are not associated with ASD in the Korean population.

Comprehensive comparative analysis of chloroplast genomes from seven Panax species and development of an authentication system based on species-unique single nucleotide polymorphism markers

  • Nguyen, Van Binh;Giang, Vo Ngoc Linh;Waminal, Nomar Espinosa;Park, Hyun-Seung;Kim, Nam-Hoon;Jang, Woojong;Lee, Junki;Yang, Tae-Jin
    • Journal of Ginseng Research
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    • v.44 no.1
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    • pp.135-144
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    • 2020
  • Background: Panax species are important herbal medicinal plants in the Araliaceae family. Recently, we reported the complete chloroplast genomes and 45S nuclear ribosomal DNA sequences from seven Panax species, two (P. quinquefolius and P. trifolius) from North America and five (P. ginseng, P. notoginseng, P. japonicus, P. vietnamensis, and P. stipuleanatus) from Asia. Methods: We conducted phylogenetic analysis of these chloroplast sequences with 12 other Araliaceae species and comprehensive comparative analysis among the seven Panax whole chloroplast genomes. Results: We identified 1,128 single nucleotide polymorphisms (SNP) in coding gene sequences, distributed among 72 of the 79 protein-coding genes in the chloroplast genomes of the seven Panax species. The other seven genes (including psaJ, psbN, rpl23, psbF, psbL, rps18, and rps7) were identical among the Panax species. We also discovered that 12 large chloroplast genome fragments were transferred into the mitochondrial genome based on sharing of more than 90% sequence similarity. The total size of transferred fragments was 60,331 bp, corresponding to approximately 38.6% of chloroplast genome. We developed 18 SNP markers from the chloroplast genic coding sequence regions that were not similar to regions in the mitochondrial genome. These markers included two or three species-specific markers for each species and can be used to authenticate all the seven Panax species from the others. Conclusion: The comparative analysis of chloroplast genomes from seven Panax species elucidated their genetic diversity and evolutionary relationships, and 18 species-specific markers were able to discriminate among these species, thereby furthering efforts to protect the ginseng industry from economically motivated adulteration.

Development of a SCAR Marker Linked to Male Fertility Traits in 'Jinkyool' (Citrus sunki) ('진귤' (Citrus sunki) 의 웅성가임 연관 SCAR 마커 개발)

  • Chae, Chi-Won;Dutt, Manjul;Yun, Su-Hyun;Park, Jae-Ho;Lee, Dong-Hoon
    • Journal of Life Science
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    • v.21 no.12
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    • pp.1659-1665
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    • 2011
  • In Citrus, an $F_1$ segregation population of 150 plants was constructed from a cross between 'Kiyomi' (C. unshiu ${\times}$ C. sinensis) carrying the male sterility trait and 'Jinkyool' (C. sunki). Sequence-related amplification polymorphism (SRAP) combined with bulked segregant analysis was used to develop markers linked to male fertility. In the $F_1$ population, 66 out of 150 seedlings had aborted anthers and the ratio of male sterile plants to fertile plants in the progenies matched the expected Mendelian segregation ratio of 1:1 ($x^2$ =2.16 at p=0.05). From the profiling of the 197 SRAP primer sets, three SRAP primer sets (F4/R27, F39/R60, and F15/R37) that were closely linked to the target trait were identified and successfully converted into a sequence characterized amplified region (SCAR) marker for selection of male fertility in citrus. The SCAR marker, using the pMS 33U/pMS 1462L primer set specifically, produced a single 1.4-Kb fragment that was linked to male fertility. Our results suggested that this SCAR marker can be useful for marker-assisted selection of male sterile individuals in breeding $F_1$ progenies in Citrus.

Gene Promoter Variation of Phosphoglycerate Kinase, a Glucose Metabolism Enzyme, is a Biomarker for Selection of Disease-resistant Sea Squirt, Halocynthia Roretzi (당 생합성 효소 PGK 유전자 프로모터 변이와 물렁증 저항성 멍게의 선별)

  • Cho, Hyun Kook;Hur, Young Baek;Cheong, Jae Hun
    • Journal of Life Science
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    • v.23 no.2
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    • pp.190-196
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    • 2013
  • The sea squirt, Halocynthia roretzi, has experienced mass mortality due to softness syndrome. The identification of disease-induced genes can provide insights into the development of this syndrome. To identify the genes, we performed differentially expressed gene (DEG) analysis. The expression of the phosphoglycerate kinase (HrPGK) gene was significantly decreased in diseased sea squirts compared to normal ones. We confirmed the result of the DEG analysis through RT-PCR and real-time PCR. In addition, we detected single nucleotide polymorphisms at position -106 (A/T) and -254 (G/T) in the HrPGK gene promoter by genotyping analysis. At the -106 site of the HrPGK gene, the frequency of the AA allele in disease-resistant sea squirts was about two-fold higher than that of sensitive ones, and the frequency of the TT allele in the disease-resistant sea squirts was about six-fold lower. At the -254 site of the HrPGK gene, the frequency of the GT and the GG allele was approximately two-fold higher and two-fold lower, respectively, in the disease-resistant sea squirts compared to the disease-sensitive ones. Analysis of the relationship between the genotypic variation at the -106/-254 promoter and the expression of HrPGK mRNA showed that HrPGK mRNA expression was higher in the -106/-254 AA/GT genotype samples than in the -106/254 TT/GG genotype ones. These results show that sea squirts harboring the AA/GT genotype may have more resistance to mortality than the sea squirts with other genotypes.

Development of Cleaved Amplified Polymorphic Sequence (CAPS) Marker for Selecting Powdery Mildew-Resistance Line in Strawberry (Fragaria×ananassa Duchesne) (딸기 흰가루병 저항성 계통 선발을 위한 분자마커 개발)

  • Je, Hee-Jeong;Ahn, Jae-Wook;Yoon, Hae-Suk;Kim, Min-Keun;Ryu, Jae-San;Hong, Kwang-Pyo;Lee, Sang-Dae;Park, Young-Hoon
    • Horticultural Science & Technology
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    • v.33 no.5
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    • pp.722-729
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    • 2015
  • Powdery mildew (PM) caused by Podosphaera aphanis is a major disease that can result in significant yield losses in strawberry (Fragaria ${\times}$ ananassa Duchesne). For preventing PM, pesticides are usually applied in strawberry. In this study, molecular markers were developed to increase breeding efficiency of PM-resistance cultivars by marker-assisted selection (MAS). An $F_2$ population derived from a cross between PM-resistance 'Seolhyang' and PM-susceptibility 'Akihime' was evaluated for disease resistance to PM and RAPD (random amplification of polymorphic DNA)-BSA (bulked segregant analysis). Among 200 RAPD primers tested, OPE10 primer amplified a 311bp-band present in with 331bp. Sequence alignment performed for searching polymorphisms and six single nucleotide polymorphism (SNP) were found in amplified regions. To develop polymorphic marker for distinguishing between resistant and susceptible, RAPD was converted to cleaved amplified polymorphic sequence (CAPS) marker. Among restriction enzymes associated with six SNPs, Eae I (Y/GGCCR) was successfully digested to 231bp in susceptible. The results suggest that the selected CAPS marker could be used for increasing efficiency of selecting powdery mildew resistant strawberry in breeding system.

Analysis of Genetic Relationship of Pear (Pyrus spp.) Germplasms Using AFLP Markers (AFLP 표지를 이용한 배 유전자원의 유연관계 분석)

  • Cho, Kang-Hee;Shin, Il Sheob;Kim, Hyun Ran;Kim, Jeong-Hee;Heo, Seong;Yoo, Ki Yeol
    • Korean Journal of Breeding Science
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    • v.41 no.4
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    • pp.444-450
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    • 2009
  • Amplified fragment length polymorphism (AFLP) marker was utilized for evaluation of genetic diversity of 60 pear germplasms. Twenty selective AFLP primer pairs generated a total of 522 polymorphic amplification products. From UPGMA (unweighted pair-group method arithmetic average) cluster analysis by using polymorphic bands, the pear germplasms were divided into four clusters by similarity index of 0.691. The first cluster (I) included European pears belonging to Pyrus communis and wild species such as P. nivalis and P. cordata. The second cluster (II) included Ussurian pea pears belonging to P. betulaefolia and P. fauriei. The third cluster (III) included pea pears belonging to P. calleryana and P. koehnei. Most of germplasms belonging to P. pyrifolia and P. ussuriensis, and interspecific hybrids were included in the fourth (IV) cluster. Therefore pear germplasms originated from East Asia were closely related to P. pyrifolia and P. ussuriensis. Similarity values among the tested pear germplasms ranged from 0.584 to 0.879, and the average similarity value was 0.686.

Characterization of Phenotypic Traits and Application of Fruit Flesh Color Marker in Melon (Cucumis melo L.) Accessions (멜론 유전자원의 생육 평가와 과육색 유전형 분석)

  • Bae, Ik Hyun;Kang, Han Sol;Jeong, Woo Jin;Ryu, Jae Hwang;Lee, Oh Hum;Chung, Hee
    • Korean Journal of Plant Resources
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    • v.34 no.5
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    • pp.478-490
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    • 2021
  • We aimed to generate basic breeding data for melon (Cucumis melo L.). A total of 219 melon accessions conserved at the National Agrobiodiversity Center (NAC) in Rural Development Administration (RDA) were used in this study, of which 72 (33%) were collected from India. The majority of accessions showed orange (42%) and white (36%) flesh color. In addition to phenotypic evaluations, the accessions were genotyped using a molecular marker for the carotenoid biosynthesis gene CmOr. DNA fragments of the expected size were amplified in 205 out of 219 accessions. Digestion of the PCR products with HinfI restriction endonuclease showed 100% concordance between phenotype and genotype in green-fleshed accessions, but 98%, 97%, and 80% concordance in orange-, white-, and creamy-fleshed accessions, respectively. Sequence analysis revealed single nucleotide changes in the three positions of SNP1, SNP2 and SNP1int in the CmOr gene among accessions. These newly found alleles suggest that there are multiple mechanisms in determining fruit flesh color in melon. Also, the phenotype data of diverse accessions obtained in this study will be a valuable source for melon breeding.

Genome-wide association study for frozen-thawed sperm motility in stallions across various horse breeds

  • Nikitkina, Elena V.;Dementieva, Natalia V.;Shcherbakov, Yuri S.;Atroshchenko, Mikhail M.;Kudinov, Andrei A.;Samoylov, Oleg I.;Pozovnikova, Marina V.;Dysin, Artem P.;Krutikova, Anna A.;Musidray, Artem A.;Mitrofanova, Olga V.;Plemyashov, Kirill V.;Griffin, Darren K.;Romanov, Michael N.
    • Animal Bioscience
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    • v.35 no.12
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    • pp.1827-1838
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    • 2022
  • Objective: The semen quality of stallions including sperm motility is an important target of selection as it has a high level of individual variability. However, effects of the molecular architecture of the genome on the mechanisms of sperm formation and their preservation after thawing have been poorly investigated. Here, we conducted a genome-wide association study (GWAS) for the sperm motility of cryopreserved semen in stallions of various breeds. Methods: Semen samples were collected from the stallions of 23 horse breeds. The following semen characteristics were examined: progressive motility (PM), progressive motility after freezing (FPM), and the difference between PM and FPM. The respective DNA samples from these stallions were genotyped using Axiom Equine Genotyping Array. Results: We performed a GWAS search for single nucleotide polymorphism (SNP) markers and potential genes related to motility properties of frozen-thawed semen in the stallions of various breeds. As a result of the GWAS analysis, two SNP markers, rs1141327473 and rs1149048772, were identified that were associated with preservation of the frozen-thawed stallion sperm motility, the relevant putative candidate genes being NME/NM23 family member 8 (NME8), olfactory receptor family 2 subfamily AP member 1 (OR2AP1), and olfactory receptor family 6 subfamily C member 4 (OR6C4). Potential implications of effects of these genes on sperm motility are herein discussed. Conclusion: The GWAS results enabled us to localize novel SNPs and candidate genes for sperm motility in stallions. Implications of the study for horse breeding and genetics are a better understanding of genomic regions and candidate genes underlying stallion sperm quality, and improvement in horse reproduction and breeding techniques. The identified markers and genes for sperm cryotolerance and the respective genomic regions are promising candidates for further studying the biological processes in the formation and function of the stallion reproductive system.