• Title/Summary/Keyword: lL-4 polymorphism

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The Prediction of the Expected Current Selection Coefficient of Single Nucleotide Polymorphism Associated with Holstein Milk Yield, Fat and Protein Contents

  • Lee, Young-Sup;Shin, Donghyun;Lee, Wonseok;Taye, Mengistie;Cho, Kwanghyun;Park, Kyoung-Do;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.1
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    • pp.36-42
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    • 2016
  • Milk-related traits (milk yield, fat and protein) have been crucial to selection of Holstein. It is essential to find the current selection trends of Holstein. Despite this, uncovering the current trends of selection have been ignored in previous studies. We suggest a new formula to detect the current selection trends based on single nucleotide polymorphisms (SNP). This suggestion is based on the best linear unbiased prediction (BLUP) and the Fisher's fundamental theorem of natural selection both of which are trait-dependent. Fisher's theorem links the additive genetic variance to the selection coefficient. For Holstein milk production traits, we estimated the additive genetic variance using SNP effect from BLUP and selection coefficients based on genetic variance to search highly selective SNPs. Through these processes, we identified significantly selective SNPs. The number of genes containing highly selective SNPs with p-value <0.01 (nearly top 1% SNPs) in all traits and p-value <0.001 (nearly top 0.1%) in any traits was 14. They are phosphodiesterase 4B (PDE4B), serine/threonine kinase 40 (STK40), collagen, type XI, alpha 1 (COL11A1), ephrin-A1 (EFNA1), netrin 4 (NTN4), neuron specific gene family member 1 (NSG1), estrogen receptor 1 (ESR1), neurexin 3 (NRXN3), spectrin, beta, non-erythrocytic 1 (SPTBN1), ADP-ribosylation factor interacting protein 1 (ARFIP1), mutL homolog 1 (MLH1), transmembrane channel-like 7 (TMC7), carboxypeptidase X, member 2 (CPXM2) and ADAM metallopeptidase domain 12 (ADAM12). These genes may be important for future artificial selection trends. Also, we found that the SNP effect predicted from BLUP was the key factor to determine the expected current selection coefficient of SNP. Under Hardy-Weinberg equilibrium of SNP markers in current generation, the selection coefficient is equivalent to $2^*SNP$ effect.

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.

Lack of Replication of Genetic Association with Body Mass Index Detected by Genome-wide Association Study

  • Lee, Hae-In;Kim, Jae-Jung;Park, Tae-Sung;Kim, Kyung-A;Lee, Jong-Eun;Cho, Yoon-Shin;Lee, Jong-Young;Han, Bok-Ghee;Lee, Jong-Keuk
    • Genomics & Informatics
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    • v.9 no.2
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    • pp.59-63
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    • 2011
  • Obesity provokes many serious human diseases, including various cardiovascular diseases and diabetes. Body mass index (BMI) is a highly heritable trait that is broadly used to diagnose obesity. To identify genetic loci associated with obesity in Asians, we conducted a genome-wide association study (GWAS) of a population of Korean adults (n=6,742, age 40~60 years) and detected six BMI risk loci (TNR, FAM124B, RGS12, NFE2L3, MC4R and FTO) having p< $1{\times}10^{-5}$. However, in the replication study, only melanocortin 4 receptor gene (MC4R) (rs9946888, p=$4.58{\times}10^{-7}$) was replicated with marginal significance (p<0.05) in the second cohort (n=5,102, age 40~60 years). This study indicates that each locus associated with BMI has very weak genetic effect.

Habitats Ecological Characteristics of Asplenium scolopendrium L. and its RAPD Analysis

  • Ok, Gil-Hwan;Yoo, Ki-Oug
    • Korean Journal of Plant Resources
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    • v.25 no.6
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    • pp.719-730
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    • 2012
  • This study was conducted to investigate the environmental characteristics of natural habitats, and the genetic variations in samples from 19 different quadrates of Asplenium scolopendrium 10 habitats. The natural habitats of A. scolopendrium were located at an altitudes 110-973 m with inclinations of $7-30^{\circ}$. All the quadrates were located on north facing slopes. The average field capacity of the soil is 31.4%, with organic matter at 16.7%, and the pH is 5.84. The soil texture was confirmed as sandy loam in 8 habitats and silt loam in 2 habitats. A total of 214 vascular plants were identified from 10 habitats. The importance value of the herbaceous layer (H) was the highest in A. scolopendrium, at 10.4%, followed by Arachniodes standishii (7.3%), Dryopteris crassirhizoma (6.5%), and Polystichum tripteron (5.3%), which implies that the natural habitats of A. scolopendrium are affinity with ferns. The species diversity of A. scolopendrium was estimated as on average 1.09, while the dominance and evenness were 0.12 and 0.87, respectively. The result of the RAPD analysis, among 59 bands amplified with a primer, 25 (42.4%) showed polymorphism. Twenty-one individuals of 10 habitats could be classified into four groups with similarity coefficient values ranging from 0.74 to 1.0. Mt. Mullae and Geumdaebong populations shows basal branching within the 21 individuals. Ulleung-do island and Jeju-do island population forms an independent clade, respectively. Mt. Moak and Byeonsan-bando clade formed a sister to the Ulleung-do island and Jeju-do island clade.

The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease (가와사키병의 관상동맥 이상과 catechol-O-methyltransferase 유전자의 단일염기다형성)

  • Lee, Hyo Jin;Lee, Myung Sook;Kim, Ji Sook;Kim, Eun Ryoung;Kang, Sung Wook;Kim, Soo Kang;Chung, Joo Ho;Yoon, Kyung Lim;Han, Mi Young;Cha, Seong Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.87-92
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    • 2009
  • Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

Association of the CYP1B1 Gene Polymorphism with the Risk of Advanced Endometriosis in Korean Women (한국 여성에서 중증자궁내막증과 CYP1B1 유전자 다형성과의 관련성에 관한 연구)

  • Cho, Yeon Jean;Hur, Sung-Eun;Lee, Ji Young;Song, In Ok;Koong, Mi Kyoung;Moon, Hye Sung;Chung, Hye-Won
    • Clinical and Experimental Reproductive Medicine
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    • v.33 no.2
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    • pp.85-95
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    • 2006
  • Objective: To investigate whether polymorphisms of gene encoding CYP1B1 is associated with the risk of endometriosis in Korean women. Methods: We investigated 199 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 183 control group women who were surgically proven to have no endometriosis. The genetic distribution of four different CYP1B1 polymorphisms at $G^{119}-T$, $G^{432}-C$, $T^{449}-C$, and $A^{453}-G$ were analyzed by polymerase chain reaction(PCR) and restriction fragment length polymorphism of PCR products. Results: We found no overall association between each individual CYP1B1 genotype and the risk of endometriosis. The odds ratio of genotype GG/GC+GG/TC+TT/AA compared to GG/CC/CC/AA(reference) was calculated as 2.06 with a 95% confidence interval of 1.003~4.216. Conclusion: This results suggest that CYP1B1 genetic polymorphism may be associated with development of endometriosis in Korean women.

Overexpression of Ubiquitin and Amino Acid Permease Genes in Association with Antimony Resistance in Leishmania tropica Field Isolates

  • Kazemi-Rad, Elham;Mohebali, Mehdi;Erfan, Mohammad Bagher Khadem;Hajjaran, Homa;Hadighi, Ramtin;Khamesipour, Ali;Rezaie, Sassan;Saffari, Mojtaba;Raoofian, Reza;Heidari, Mansour
    • Parasites, Hosts and Diseases
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    • v.51 no.4
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    • pp.413-419
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    • 2013
  • The mainstay therapy against leishmaniasis is still pentavalent antimonial drugs; however, the rate of antimony resistance is increasing in endemic regions such as Iran. Understanding the molecular basis of resistance to antimonials could be helpful to improve treatment strategies. This study aimed to recognize genes involved in antimony resistance of Leishmania tropica field isolates. Sensitive and resistant L. tropica parasites were isolated from anthroponotic cutaneous leishmaniasis patients and drug susceptibility of parasites to meglumine antimoniate (Glucantime$^{(R)}$) was confirmed using in vitro assay. Then, complementary DNA-amplified fragment length polymorphism (cDNA-AFLP) and real-time reverse transcriptase-PCR (RT-PCR) approaches were utilized on mRNAs from resistant and sensitive L. tropica isolates. We identified 2 known genes, ubiquitin implicated in protein degradation and amino acid permease (AAP3) involved in arginine uptake. Also, we identified 1 gene encoding hypothetical protein. Real-time RT-PCR revealed a significant upregulation of ubiquitin (2.54-fold), and AAP3 (2.86-fold) (P<0.05) in resistant isolates compared to sensitive ones. Our results suggest that overexpression of ubiquitin and AAP3 could potentially implicated in natural antimony resistance.

Molecular Analysis of Botrytis cinerea Causing Ginseng Grey Mold Resistant to Carbendazim and the Mixture of Carbendazin Plus Diethofencarb

  • Kim, Joo-Hyung;Min, Ji-Young;Bae, Young-Seok;Kim, Heung-Tae
    • The Plant Pathology Journal
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    • v.25 no.4
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    • pp.322-327
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    • 2009
  • A total of 23 isolates of Botrytis cinerea causing the grey mold were collected from infected ginseng in several fields of Korea. The sensitivity to carbendazim and the mixture of carbendazim plus diethofencarb was determined through a mycelial inhibition test on PDA amended with or without fungicides. B. cinerea isolates were classified as 3 phenotypes, which were the first phenotype resistant to both of carbendazim and the mixture ($Car^RMix^R$), the second one resistant to carbendazim and sensitive to the mixture ($Car^RMix^S$), and the last one sensitive to both of them ($Car^RMix^S$). Carbendazim resistance correlated with a single mutation $\beta$-tubulin gene of B. cinerea amplified with primer pair tubkjhL and tubkjhR causing a change of glutamate to alanine at amino acid position 198. Furthermore, the substitution of valine for glutamate led the resistance to carbendazim and the mixture at the same position of amino acid. PCR-restriction fragment length polymorphism (PCR-RFLP) analysis using the restriction endonuclease, Tsp451 and BstUI allowed differentiation of the PCR fragment of $\beta$-tubulin gene of $Car^SMix^S$ isolates from that of $Car^RMix^R$ and $Car^RMix^S$ isolates. This method will aid in a fast detection of resistance of carbendazim and the mixture of carbendazim plus diethofencarb in B. cinerea in ginseng field.

AFLP analysis to assess genomic stability in Solanum regenerants derived from wild and cultivated species

  • Aversano, Riccardo;Di Dato, Francesco;Di Matteo, Antonio;Frusciante, Luigi;Carputo, Domenico
    • Plant Biotechnology Reports
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    • v.5 no.3
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    • pp.265-271
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    • 2011
  • The cultivated potato as well as its tuber-bearing relatives are considered model plants for cell and tissue culture, and therefore for exploiting the genetic variation induced by in vitro culture. The association between molecular stability and tissue culture in different genetic backgrounds and ploidy levels has already been explored. However, it still remains to be ascertained whether somaclonal variation differs between callus-derived chromosome-doubled and undoubled regenerants. Our research aimed at investigating, through amplified fragment length polymorphism (AFLP) markers, the genetic changes in marker-banding patterns of diploid and tetraploid regenerants obtained from one clone each of Solanum bulbocastanum Dunal and S. cardiophyllum Lindl (both 2n = 2x = 24) and tetraploids from cultivated S. tuberosum L. (2n = 4x = 48). Pairwise comparisons between the banding patterns of regenerants and parents allowed detecting considerable changes associated to in vitro culture both at diploid and tetraploid level. The percentages of polymorphic bands between diploid and tetraploid regenerants were, respectively, 57 and 69% in S. bulbocastanum and 58 and 63% in S. cardiophyllum. On average, the frequencies of lost parental fragments in regenerants were significantly higher than novel bands both in S. bulbocastanum (48 vs. 22%) and S. tuberosum (36 vs. 18%) regenerants. By contrast, in S. cardiophyllum, a similar incidence of the two events was detected (32 vs. 29%). Our results revealed that structural changes after tissue culture process strongly affected the genome of the species studied, but diploid and tetraploids regenerated plants responded equally.

Mitochondrial DNA Analysis of Human Skeletal Remains Excavated from Myungam-ri site in Asan, Korea (아산시 명암리 출토 인골의 미토콘드리아 DNA 분석)

  • Kim, Yun-Ji;Kim, Sue-Hoon;Cho, Eun-Min;Lee, Jeong-won
    • 보존과학연구
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    • s.36
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    • pp.33-48
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    • 2015
  • In this study, ancient DNA analyses were carried out on the human skeletal remains from a historical cemetery site in Myeongam-ri, Asan, Korea. Human remains of 27 individuals out of tombs from the Goryeo to Joseon Dynasty were selected for the analysis of this study. In order to identify the genealogy of the population and traditional burial pattern of the cemetery, we conducted comparative analyses of the hyper variable regions (HVRs) in mitochondrial DNA (mtDNA) of each sample. We sequenced 9 segmental amplicons of HVRs and assigned relevant haplogroups according to the sequence polymorphism on the basis of the known mtDNA database. As a result, we were analyses 18 human remains of 27 individuals and result of amelogenin analysis were only 4 samples.

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