• 생명과학회지
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• 제24권11호
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• pp.1168-1173
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• 2014

HGD (homogentisate1,2-dioxygenase)유전자는 소의 1번 염색체에 존재하며, tyrosine과 phenylalanine의 이화 작용을 돕는 효소 중 하나로 알려져 있다. 또한 소에서 도체중과 등심단면적에 영향을 주는 유전자로 보고된 바 있다. 본 연구는 한우 집단을 대상으로 HGD유전자내 변이지역을 탐색하고, 경제형질과의 연관성을 분석하기 위하여 실시하였다. 총 14개의 Exon지역을 바탕으로 변이지역을 탐색한 결과, 10개의 SNPs를 확인하였고, 이 중 genotype의 Frequency (MAF>0.1)를 고려하여 6개의 SNPs (G34256T, G34257C, T34284C, T42333G, T42348C, T42468C)를 발굴하여 경제형질과의 연관성을 분석하였다. 그 결과 G34256T에서 근내지방도와 유의적인 연관성이 확인되었고, G34257C에서 등심단면적과 근내지방도에서 유의적인 연관성이 확인되었다. 따라서 본 연구 결과에서 확인된 HGD 유전자의 SNP유전자형은 한우선발 및 개량을 위한 분자육종의 기초 자료로 이용할 수 있을 것으로 사료된다.

• 식물분류학회지
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• 제51권3호
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• pp.337-344
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• 2021

The chloroplast genome of Limonium tetragonum (Thunb.) Bullock, a halophytic species, was sequenced to understand genetic differences based on its geographical distribution. The cp genome of L. tetragonum was 154,689 bp long (GC ratio is 37.0%) and has four subregions: 84,572 bp of large single-copy (35.3%) and 12,813 bp of small single-copy (31.5%) regions were separated by 28,562 bp of inverted repeat (40.9%) regions. It contained 128 genes (83 protein-coding genes, eight rRNAs, and 37 tRNAs). Thirty-five single-nucleotide polymorphisms and 33 INDEL regions (88 bp in length) were identified. Maximum-likelihood and Bayesian inference phylogenetic trees showed that L. tetragonum formed a sister group with L. aureum, which is incongruent with certain previous studies, including a phylogenetic analysis.

• 식물분류학회지
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• 제51권2호
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• pp.176-180
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• 2021

Arabidopsis thaliana (L.) Heynh. is a small plant species that serves as a model organism of plant biology and genetics. Here, we present the first complete mitochondrial genome of Korean A. thaliana natural isolate (named as 180404IB4), which is 368,875 bp long and contains 58 genes (33 protein-coding genes, 22 tRNAs, and three rRNAs), with a GC ratio of 44.8%. Sixty-four single-nucleotide polymorphisms and 11 insertion and deletion regions (1,089 bp in length) are identified against the Col-0 ecotype, showing one large insertion of 1,069 bp without structural variation. Phylogenetic trees constructed from 30 conserved genes indicate that the 180404IB4 mitochondrial genome is clustered with Col-0 and three East Asian ecotypes.

• 식물분류학회지
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• 제51권4호
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• pp.353-362
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• 2021

The chloroplast genome of Glycyrrhiza uralensis Fisch was sequenced to investigate intraspecific variations on the chloroplast genome. Its length is 127,689 bp long (34.3% GC ratio) with atypical structure of chloroplast genome, which is congruent to those of Glycyrrhiza genus. It includes 110 genes (76 protein-coding genes, four rRNAs, and 30 tRNAs). Intronic region of ndhA presented the highest nucleotide diversity based on the six G. uralenesis chloroplast genomes. A total of 150 single nucleotide polymorphisms and 10 insertion and deletion (INDEL) regions were identified from the six G. uralensis chloroplast genomes. Phylogenetic trees show that the six chloroplast genomes of G. uralensis formed the two clades, requiring additional studies to understand it.

• Asian-Australasian Journal of Animal Sciences
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• 제21권8호
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• pp.1073-1079
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• 2008

The objectives of this study were to identify polymorphisms of insulin-like growth factor I (IGF-I) gene and to investigate their association with growth traits in Nanjiang Huang goats. Five hundred and ninety-two animals were used to detect the polymorphisms in the complete coding sequence, part of introns and the 5'-regulatory region of the IGF-I gene by means of PCR-SSCP. A new single nucleotide polymorphism (G to C transversion) was identified at intron 4 of the IGF-I gene in the goats. Two alleles and three genotypes were observed in this group. The frequency of G and C alleles was 54.6 and 45.4%, respectively. The statistical analysis showed that polymorphism of the IGF-I gene had a significant association (p<0.05) with birth weight (BW), body weight at 6 months (W6) and at 12 months (W12), heart girth at 2 months (G2), body length at 6 months (L6), wither height at 6 months (H6) and at 12 months (H12) and heart girth at 12 months (G12). The goats with genotype CC had significantly higher BW, W6, W12, G2, L6, H6, H12 and G12 than those with genotype GC and had significantly higher W12, H6, H12 and G12 than those with genotype GG. Therefore, genotype CC may be the most advantageous for growth traits in the Nanjiang Huang goat. However, no significant association between SNP genotypes and other growth traits was observed. These results indicated that the SNP marker of the IGF-I gene may be a potential molecular marker for growth traits in Nanjiang Huang goats.

• 한국잡초학회지
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• 제18권1호
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• pp.76-83
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• 1998

피속 잡초 수집종 33종을 대상으로 RAPD marker를 이용하여 피 수집종 간의 유전적변이를 알아보고, 수집종들을 판별할 수 있는 DNA marker를 선발하기 위하여 본 실험을 수행한 결과를 요약하면 다음과 같다. Operon사에서 제작된 74개의 10-mer RAPD primer 가운데에서 명확한 다형성을 보이는 6개 primer를 선발하였다. 이들 primer로 PCR에서 증폭된 밴드는 31개이었으며 이 가운데 다형성을 나타내는 band는 26개(83.9%)로 나타났다. 피 수집종 간의 유연 관계를 분석한 결과 공시된 피 수집종은 크게 3그룹으로 분류할 수 있었다.

• The Korean Journal of Physiology and Pharmacology
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• 제19권4호
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• pp.319-325
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• 2015

Among solute carrier proteins, the organic anion transporters (OATs) play an important role for the elimination or reabsorption of endogenous and exogenous negatively charged anionic compounds. Among OATs, SLC22A9 (hOAT7) transports estrone sulfate with high affinity. The net decrease of estrogen, especially in post-menopausal women induces rapid bone loss. The present study was performed to search the SNP within exon regions of SLC22A9 in Korean females with osteoporosis. Fifty healthy controls and 50 osteoporosis patients were screened for the genetic polymorphism in the coding region of SLC22A9 using GC-clamped PCR and denaturing gradient gel electrophoresis (DGGE). Six SNPs were found on the SLC22A9 gene from Korean women with/without osteoporosis. The SNPs were located as follows: two SNPs in the osteoporosis group (A645G and T1277C), three SNPs in the control group (G1449T, C1467T and C1487T) and one SNP in both the osteoporosis and control groups (G767A). The G767A, T1277C and C1487T SNPs result in an amino acid substitution, from synonymous vs nonsynonymous substitution arginine to glutamine (R256Q), phenylalanine to serine (F426S) and proline to leucine (P496L), respectively. The Km values and Vmax of the wild type, R256Q, P496L and F426S were 8.84, 8.87, 9.83 and $12.74{\mu}M$, and 1.97, 1.96, 2.06 and 1.55 pmol/oocyte/h, respectively. The present study demonstrates that the SLC22A9 variant F426S is causing inter-individual variation that is leading to the differences in transport of the steroid sulfate conjugate (estrone sulfate) and, therefore this could be used as a marker for certain disease including osteoporosis.

• BMB Reports
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• 제37권6호
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• pp.691-699
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• 2004

Osteoporosis is a disease characterized by exaggerated loss of bone mass, with as much as 50 to 85% of the variation in bone mineral density (BMD) commonly accepted as being genetically determined. Although intensive studies have attempted to elucidate the genetic effects of polymorphisms on BMD and/or osteoporosis in several genes, the genes involved are still largely unknown. The possible associations of genetic variants in five-candidate genes (IL10, CCR3, MCP1, MCP2 and GC) with spinal BMD were investigated in Korean postmenopausal women (n = 370). Fourteen SNPs in five candidate genes were genotyped, and the haplotypes of each gene constructed. The associations of adjusted spinal BMD by age, year since menopause (YSM) and body mass index (BMI), with genetic polymorphisms, were analyzed using multiple regression models. Genetic association analysis of Korean postmenopausal women revealed that IL10 -592A > C and/or IL10 ht2 were associated with decreased bone mass, whereas no significant associations were observed with all polymorphisms in other genes. The levels of spinal BMD in individuals bearing the IL10 -592CC genotype were lower ($0.78{\pm}0.16$) than those in others ($0.85{\pm}0.17$) (P = 0.02), and the BMD of IL10 ht2 bearing individuals were also lower ($0.82{\pm}0.15$) than those in others ($0.85{\pm}0.17$) (P = 0.04). Our results suggest that variants of IL10 might play a role in the decreased BMD, although additional study might need to be followed-up in a more powerful cohort.

• 식물분류학회지
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• 제51권3호
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• pp.326-331
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• 2021

The complete chloroplast genome of Zoysia macrostachya Franch. & Sav. isolated in Korea is 135,902 bp long (GC ratio is 38.4%) and has four subregions; 81,546 bp of large single-copy (36.3%) and 12,586 bp of small single-copy (32.7%) regions are separated by 20,885 bp of inverted repeat (44.1%) regions, including 130 genes (83 protein-coding genes, eight rRNAs, and 39 tRNAs). Thirty-nine single nucleotide polymorphisms and 11 insertions and deletion (INDEL) regions were identified from two Z. macrostachya chloroplast genomes, the smallest among other Zoysia species. Phylogenetic trees show that two Z. macrostachya chloroplast genomes are clustered into a single clade. However, we found some incongruency with regard to the phylogenetic position of the Z. macrostachya clade. Our chloroplast genome provides insights into intraspecific variations and species delimitation issues pertaining to the Zoysia species.

• Asian-Australasian Journal of Animal Sciences
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• 제32권12호
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• pp.1801-1808
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• 2019

Objective: As an iconic symbol of Qinghai-Tibetan Plateau and of high altitude, yak are subjected to hypoxic conditions that challenge aerobic metabolism. Matrix metalloproteinases-3 (MMP3) is assumed to be a key target gene of hypoxia-inducible factor-$1{\alpha}$ that function as a master regulator of the cellular response to hypoxia. Therefore, the aim of this investigation was to identify the DNA polymorphism of MMP3 gene in domestic yak and to explore its possible association with high-altitude adaptation. Methods: The single-nucleotide polymorphisms (SNPs) genotyping and mutations scanning at the MMP3 locus were conducted in total of 344 individuals from four domestic Chinese yak breeds resident at different altitudes on the Qinghai-Tibetan Plateau, using high-resolution melting analysis and DNA sequencing techniques. Results: The novel of SNPs rs2381 $A{\rightarrow}G$ and rs4331 $C{\rightarrow}G$ were identified in intron V and intron VII of MMP3, respectively. Frequencies of the GG genotype and the G allele of SNP rs2381 $A{\rightarrow}G$ observed in high-altitude Pali yak were significantly higher than that of the other yak breeds resident at middle or low altitude (p<0.01). No significant difference was mapped for SNP rs4331 $C{\rightarrow}G$ in the yak population (p>0.05). Haplotype GC was the dominant among the 4 yak breeds, and Pearson correlation analysis showed that the frequencies of GC was significantly lower in Ganan (GN), Datong (DT), and Tianzhu white yaks (TZ) compared with Pali (PL) yak. The two SNPs were in moderate linkage disequilibrium in high-altitude yaks (PL) but not in middle-altitude (GN, DT) and low-altitude (TZ) yaks. Conclusion: These results indicate that MMP3 may have been subjected to positive selection in yak, especially that the SNP rs2381 $A{\rightarrow}G$ mutation and GC haplotypes might contribute to adaptation for yak in high-altitude environments.