• Title/Summary/Keyword: genetic variation analyses

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Characterization of gene expression and genetic variation of horse ERBB receptor feedback inhibitor 1 in Thoroughbreds

  • Choi, Jae-Young;Jang, Hyun-Jun;Park, Jeong-Woong;Oh, Jae-Don;Shin, Donghyun;Kim, Nam Young;Oh, Jin Hyeog;Song, Ki-Duk;Cho, Byung-Wook
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.3
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    • pp.309-315
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    • 2018
  • Objective: This study aimed to test the expression patterns of ERBB receptor feedback inhibitor 1 (ERRFI1) before and after exercise and the association of non-synonymous single-nucleotide polymorphisms (nsSNPs) of horse ERRFI1 with racing traits in Thoroughbreds. Methods: We performed bioinformatics and gene expression analyses for horse ERRFI1. Transcription factor (TF) binding sites in the 5'-regulatory region of this gene were identified through a tool for prediction of TF-binding site (PROMO). A general linear model was used to detect the association between the nsSNP (LOC42830758 A to G) and race performance. Results: Quantitative polymerase chain reaction analysis showed that expression level of ERRFI1 after exercise was 1.6 times higher than that before exercise. Ten transcription factors were predicted from the ERRFI1 regulatory region. A novel nsSNP (LOC42830758 A to G) was found in ERRFI1, which was associated with three racing traits including average prize money, average racing index, and 3-year-old starts percentile ranking. Conclusion: Our analysis will be helpful as a basis for studying genes and SNPs that affect race performance in racehorses.

Geosmin and Morphological Characteristics of Anabaena circinalis, Obtained from the Bukhan River (북한강에서 출현한 Anabaena circinalis의 형태학적 특성 및 지오스민(geosmin) 발생 양상)

  • Youn, Seok Jea;Kim, Yong-Jin;Kim, Hun Nyun;Kim, Jin-Yong;Yu, Mi-Na;Lee, Eun Jeong;Yu, Soon Ju
    • Journal of Environmental Science International
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    • v.27 no.1
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    • pp.27-38
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    • 2018
  • This study was carried out in the Bukhan River in the summer of 2014 and 2015, to identify the relationship between geosmin and the morphological changes in Anabaena. Identification of Anabaena was conducted using morphological and molecular analyses. Anabaena in this study was similar to Anabaena circinalis, A. crass, and A. spiroides with regard to regular coils, vegetative cell, akinete shape, and size, hoever, it was distinguishabl from A. crass and A. spiroides because of its larger trichome coil size. Additionally, the sequences of phycocyanin (PC) gene from Anabaena showed a 99% genetic similarity with A. circinalis NIES-1647 strain. The coil diameter of trichome ranged from 106 to $899{\mu}m$, and the diameter and abundance showed an insignificant positive correlation (r=0.544, p<0.05). The result of relationship between the coil diameter and the cell number per 360-degree rotation was kept at $33.8{\pm}5.2$ cells per $100{\mu}m$ diameter despite variable diameter. The average geosmin concentrations in 2014 and 2015 were investigated to be 99 ng/L and 35 ng/L, respectively. A. circinalis cell density contributed considerably to the change in geosmin and was positively correlated with geosmin concentration (2014; r=0.599, p<0.01, 2015; r=0.559, p<0.01). Our results suggest that geosmin and coil diameter could be estimated with the help of cell density.

Mitochondrial D-Loop Variations for Discrimination of Commercial Korean Native Chicken Populations

  • Sultana, Hasina;Hoque, Md. Rashedul;Seo, Dong-Won;Kang, Bo-Seok;Heo, Kang-Nyeong;Jo, Cheorun;Lee, Jun-Heon
    • Korean Journal of Poultry Science
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    • v.39 no.4
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    • pp.311-315
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    • 2012
  • The increasing demand for Korean native chicken meat indicates that the discovery of haplotypes is very important from both economic and conservation points of view. In this study, mtDNA D-loop sequences from two crossbred Korean native chicken populations of 138 individuals were investigated. Twenty six nucleotide substitutions were identified from sequence analysis and were classified into 12 haplotypes. The haplotype H_8 represents 73.47% of Woorimatdag (chicken population) sequences, which were identified in all five Woorimatdag chicken populations investigated. The H_7 haplotype (Dhap1) for D population covers 45% sequences, which indicate maternal inheritance from black Korean native chicken. On the other hand, Chap3 and Chap4 for C population are specific haplotypes, as H_5 and H_2, respectively. Based on the network profiles, six SNPs (C199T, A239G, G242A, A291G, T330C and C391A) of the D-loop region are effective markers for discrimination between Woorimatdag and Hanhyup chicken populations. Also, the phylogenetic analyses of Woorimatdag and Hanhyup chicken populations were used to identify the genetic relationships among the haplotypes. The results presented here can be used for developing molecular markers to discriminate between two commercial Korean native chickens.

DNA barcoding of Schisandraceae in Korea (한국산 오미자과의 DNA 바코드)

  • Youm, Jung Won;Han, Sang-Wook;Seo, Seon Won;Lim, Chae Un;Oh, Sang-Hun
    • Korean Journal of Plant Taxonomy
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    • v.46 no.3
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    • pp.273-282
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    • 2016
  • The establishment of a DNA barcode database at the regional scale and assessments of the utility of DNA barcodes are crucial for conservation biology and for the sustainable utilization of biological resources. Schisandraceae is a small family consisting of ca. 45 species. It contains many economically important species, such as Schisandra chinensis, which is widely used as a source in tonic beverages and in oriental medicine. In Korea, three species, S. chinensis, S. repanda, and Kadsura japonica, are distributed. We evaluated the level of variation of the DNA sequences of rbcL, matK, and the ITS regions from 13 accessions representing the distributional range of the three species. The three DNA barcode regions were easily amplified and sequenced. The minimum values of the interspecific genetic distances among S. chinensis, S. repanda, and K. japonica either separately or in combination are 4- to 23-fold higher than the maximum value of the intraspecific distance, showing that there is a clear DNA barcoding gap in the regions for Korean Schisandraceae. Phylogenetic analyses of the three DNA barcode regions, separately and simultaneously, indicate that all of the DNA barcode regions are useful for identifying a species of Schisandraceae in Korea. The distinctiveness of the three species of Schisandraceae was also supported at the species level when Chinese and Japanese populations were added. The results of this study indicate that three concatenated regions constitute the best option for DNA barcoding in Schisandraceae in Korea.

Genotypic Variations among Human Caliciviruses in Korea: 1987-1994 (한국에 산재하는 사람 Caliciviruses의 다양한 유전자군: 1987-1994년)

  • Nam, Ki-Bum;Kim, Ji-Aee;Yang, Jai-Myung;Kim, Kyung-Hee
    • The Journal of Korean Society of Virology
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    • v.27 no.2
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    • pp.185-195
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    • 1997
  • Sequence comparison of the RNA-dependent RNA polymerase of human caliciviruses (HuCVs) from Korean children with gastroenteritis revealed significant genetic variation among them. cDNA clones were produced from the HuCVs collected from pediatric population during a period of 1987-1994. The application of reverse transcription-polymerase chain reaction (RT-PCR) using primers directed to the RNA-dependent RNA polymerase region within ORF1 of Norwalk virus (NV) showed that 13.7% of HuCVs yielded PCR products of similar size to the NV prototype, NV8FIIa/68/US, with exceptions of HuCV 185/87/Korea and HuCV 1115/90/Korea. Computer analyses showed that the PCR products had a continuous protein encoding frame on the positive strand, and contained GLPSG and YGDD amino acid motifs at the predicted distance from primers. Alignment of the amino acid sequences of HuCVs with previously published sequences for Snow Mountain agent (SMA), NV, and Sapporo/82/Japan indicated that these strains can be divided into four major genogroups. There were 10 (45%) SMA-like CVs, one (4.5%) NV-like HuCVs, two (9%) Sapporo-like HuCVs, and nine (41%) unidentified HuCVs. This fourth genogroup should be investigated further. HuCV 185/87/Korea and HuCV 1115/90/Korea, Sapporo-like CVs, were genetically distinct from previously characterized HuCVs and more closely related to known animal CVs. One of the animal CV-like strain, HuCV 185/87/Korea, showed nucleotide and amino acid homology of only 67% and 73% with the prototype Sapporo/82/Japan. Further characterization of animal and human CV genomes and studies of possible cross-transmission of CVs from animals to humans are likely to be beneficial in understanding the epidemiology of HuCVs.

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Phylogenetic Relationship among Several Korean Coastal Red Tide Dinoflagellates Based on their rDNA Internal Transcribed Spacer Sequences

  • Cho, Eun-Seob;Kim, Gi-Yong;Park, Hyung-Sik;Nam, Byung-Hyouk;Lee, Jae-Dong
    • Journal of Life Science
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    • v.11 no.2
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    • pp.74-80
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    • 2001
  • The nucleotide sequences of the internal transcribed spacer regions (ITS1 and ITS2) of ribosomal DNA (rDNA), and the 5.85 rRNA gene, have been determined for 13 strains of dinoflagellates in order to analyze the phylo-genetic relationship. The DNA sequences contained considerable variation in the ITS regions, but little in the 5.85 rDNA. In addition, the ITS1 was more variable than the ITS2 in all species examined. The nucleotide length of this region varied from 519 bp to 596 bp depending on the taxa. The investigated taxa were divided into three large groups based on the ITS length, i. e., a group with short ITS region (A. fraterculus and Alexandrium sp.), a with ITS region group (P. micans, P. minimum and P. triestinum) and a with ITS region group (G. impudicum, C. polykrikoides, G. sanguineum, G. catenatum and H. triquetra). The relationship between nucleotide length of ITS1 and that of ITS2 was negative, whereas G+C content and nucleotide length showed positive correlation. In phylogenetic analyses producing NJ trees, the topology was similar cluster and clearly divided the taxa into three groups based on 5.8S rDNA that were similar to those based on morphological characteristics. In particular, G. impudicum was more closely related to G. catenatum than to C. polykrikoides using phylogenetic analysis. From this study, we chew that the length of ITS region contributes to discriminate Korean harmful algal species and ITS analysis is a useful method for resolving the systematic relationships of dinoflagellates.

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Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

  • Lee, Bom Yi;Lee, Shin Young;Lee, Yeon Woo;Kim, Shin Young;Kim, Jin Woo;Ryu, Hyun Mee;Lee, Joong Shik;Park, So Yeon;Seo, Ju Tae
    • Journal of Genetic Medicine
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    • v.13 no.2
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    • pp.78-88
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    • 2016
  • Purpose: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. Materials and Methods:SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. Results: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). Conclusion: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

Differential Expression Analysis of Candidate Genes Related with Growth according to Dietary Supplementation of Curcuma longa in Chickens

  • Park, Sun-Ae;Kim, Lee-Kyung;Park, Chang-Min;Kim, Seung-Chang;Lee, Seung-Hwan;Lee, Ji-Woong;Choi, Bong-Hwan
    • Reproductive and Developmental Biology
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    • v.37 no.4
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    • pp.199-203
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    • 2013
  • This experiment was conducted to investigate the genetic effects of candidate genes on the growth of spleen and liver tissues using dietary Curcuma longa (C. longa) supplementation. Expression analyses of candidate genes regarding animal growth was performed in order to determine the factors affecting the growth related to immune components of Curucumin, Turmerone, and Zingiberene as the bile secretion Paratolyl methyl carbinol (PTMC). The animals were divided into four groups of five chicks supplied with experimental diets of C. longa at 0.25, 0.5 and 1% and controls. The 19 growth-related genes were known to cell maturation, differentiation significant expression patterns in this analysis. Expression of growth response-related genes in chicks supplemented with 1% of C. longa showed better growth performance than chicks with 0.25 and 0.5% in spleen (p<0.05). The IGF1, MSTN, POU1F1, ADCYAP1 gene were known to central roles in mediating gonadotropin function, regulating steroidogenesis and promoting oocyte growth and maturation. Sex steroids, androgen and estrogen can affect sex differentiation and also can affect muscle development. On the other hand, GHSR and FABP3 gene showed significant expression patterns in this analysis. The results would be used as basic information for the variation of growth-related genes expression on the cell growth, sex cell growth, and sex hormones according to dietary supplementation with C. longa in chickens.

Systematic studies on the freshwater goby, Rhinogobius species (Percifromes, Gobiidae). II. BEographic distribution and taxonomic status of three color types in the Rhinogobius brunneus complex from South Korea. (밀어속(genus Rhinogobius, Gobiidae) 어류의 계통분류학적 연구II. 한국산 밀어(R. brunneus complex) 3型의 분포 및 분류학적 고찰)

  • 김종범;양서영
    • Animal Systematics, Evolution and Diversity
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    • v.12 no.4
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    • pp.331-347
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    • 1996
  • The geographic distribution and variation for Rhinogobius brunneus were surveyed by means of allozymic and morphological analyses and it was revealed that the Korean populations of R. brunneus comprise three distinct types, Type-A, Type-B, and Type-C, which show considerable differentiation to a degree of interspecific level(Rogers' S(1972): $S_{A-B}$=0.631, $S_{A-C}$=0.628, $S_{B-C}$=0.661). In addition, no evidence of gene flow among the types was found at sympatric area and it is assumed that reproductive isolation is completed. Moreover there is microhabitat segregation according to the distance from river mouth among each types and which segregation was regarded as a factor to facilitate reproductive isolating mechanism. Therefore, based on the evidence presented above, these three types of R. brunneus are considered as typical discrete species.

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Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype

  • Lee, Dongsook;Go, Sanghee;Na, Sohyun;Park, Surim;Ma, Jinyoung;Hwang, Doyeong
    • Journal of Genetic Medicine
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    • v.17 no.1
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    • pp.21-26
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    • 2020
  • Purpose: To evaluate the additive value of prenatal chromosomal microarray analysis (CMA) in assessing increased nuchal translucency (NT) (≥3.5 mm) with normal karyotype and the possibility of detecting clinically significant genomic imbalance, based on specific indications. Materials and Methods: Invasive samples from 494 pregnancies with NT ≥3.5 mm, obtained from the Research Center of Fertility & Genetics of Hamchoon Women's Clinic between January 2019 and February 2020, were included in this study and CMA was performed in addition to a standard karyotype. Results: In total, 494 cases were subjected to both karyotype and CMA analyses. Among these, 199 cases of aneuploidy were excluded. CMA was performed on the remaining 295 cases (59.7%), which showed normal (231/295, 78.3%) or non-significant copy number variation (CNV), such as benign CNV or variants of uncertain clinical significance likely benign (53/295, 18.0%). Clinically significant CNVs were detected in 11 cases (11/295, 3.7%). Conclusion: Prenatal CMA resulted in a 3% to 4% higher CNV diagnosis rate in fetuses exhibiting increased NT (≥3.5 mm) without other ultrasound detected anomalies and normal karyotype. Therefore, we suggest using high resolution, non- targeting CMA to provide valuable additional information for prenatal diagnosis. Further, we recommend that a genetics specialist should be consulted to interpret the information appropriately and provide counseling and follow-up services after prenatal CMA.