• Toxicological Research
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• 제16권1호
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• pp.53-57
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• 2000

A mutagenicity testing system using a specific locus mutation of Bombyx mori was introduced from National Institute of Genetics in Japan. In the system, mutagenicity could be detected by the egg color manifested by the pe and/or re genes, which is a kind of recessive visible mutation of the insect. The efficiency to detect mutagenicity of the system was examined and improved. To promote the sensitivity of the system to mutagens, eight varieties of Bombyx mori were tested for their sensitivity to two mutagens, EMS and MMC. Two varieties of the silkworm, N12 and C5, were finally selected as the most sensitive ones. The most sensitive development stage of the silkworm to mutagens was mid and late pupal stages for female and male, respectively. The system will be applied to test unknown mutagens after some more detail examination about its sensitivity.

• 한국응용곤충학회지
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• 제45권3호
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• pp.283-291
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• 2006

누에의 가시 돌연변이 형질을 이용한 환경변이원 검색계 수립을 위하여 MMC, EMS, PCB에 대한 누에알 변이원 검색계의 감수성을 조사한 결과, 난모세포계는 MMC, 정세포계는 EMS에 대하여 특정적으로 높은 감수성을 보였고, PCB와 dioxin에 대해서도 양성반응을 얻을 수 있었다. 수나방의 사정횟수에 따른 정세포의 변이원 감수성 변화를 시험한 결과, 1교와 3교 때 사정된 정자 간에는 큰 차이가 없었다. 변이원 감수성은 높으나, 산란성, 우화율 등 검색계로서 주요형질이 극히 불량한 선3호는 C5, Nl2, 한삼면과의 교잡으로 주요형질이 개선되고 높은 변이원 감수성을 유지하였다.

• 한국잠사곤충학회지
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• 제49권1호
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• pp.1-7
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• 2007

누에의 가시 돌연변이 형질을 이용한 환경변이원 검색계의 연중검색 체계수립을 위하여 인공사료누에의 환경변이원에 대한 적품종 및 감수성을 조사하였다. 변이원에 대한 인공사료육 누에의 적합 품종 조사를 위해 누에품종 AT, 백옥잠, C5와 N12를 대상으로 변이원 MMC를 투여한 후 주요형질을 조사한 결과, AT는 암나방의 우화율에서, C5와 N12는 수나방의 수정률에서 높은 성적을 보였다. 반면에 백옥잠은 암나방 우화율, 암수나방의 정상산란비율, 암나방의 산란수 및 수정률에서 높은 성적을 나타내어 인공사료에 대한 적품종으로 선발되었다. 또한 변이원에 대한 감수성 조사 결과, 인공사료육에 적품종으로 선발된 백옥잠은 공시된 다른 품종보다 다소 감수성이 낮았으며, AT가 누에의 환경변이원 검색 시스템에 높은 감수성을 보였다. 변이원 감수성은 높으나, 산란성, 우화율 등 검색계로서 주요형질이 극히 불량한 AT를 연중 검색 체계수립을 위한 변이원 검색계로 이용하기 위해서는 백옥잠 등과의 교잡으로 주요형질을 개선할 필요가 있다고 판단되었다.

• Asian-Australasian Journal of Animal Sciences
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• 제19권5호
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• pp.632-637
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• 2006

Oviduct-specific glycoprotein 1 (OVGP1) is implicated in playing a role in fertilization and early embryo development. In this study, we have obtained the sequence of intron 9 of OVGP1 gene in swine. Comparative sequencing of Meishan (a native Chinese breed) and Large White pig breeds revealed an A/T substitution at position 943. A PCR-EcoRI-RFLP assay was developed to detect this mutation. Polymorphism analysis in Qingping animals showed that pigs with BB genotype had lower number of piglets born alive (NBA) in multiple parities than pigs with AA (p<0.05) and AB genotype (p<0.01). In Large $White{\times}Meishan$ ($LW{\times}M$) $F_2$ offspring, the weight of both ovaries (OW) of the BB genotype was significantly lighter than that of AB (p = 0.05) and AA (p<0.01) genotypes. Analysis of the data also revealed that the mutation locus affected these two traits mostly by additive effects. These studies indicated that the polymorphism was associated with NBA and OW in two distinct populations and further investigations in more purebreds or crossbreds are needed to confirm these results.

• Journal of Animal Science and Technology
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• 제63권4호
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• pp.751-758
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• 2021

The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino c^a, and red-eyed white c^re) and causative mutations in the tyrosinase (TYR) gene. The recessive white mutation (c) inhibits the transcription of TYR exon 5 due to a retroviral sequence insertion in intron 4. In this study, we genotyped and sequenced the insertion in TYR intron 4 to identify the mutation causing the unusual white plumage of Yeonsan Ogye chickens, which normally have black plumage. The white chickens had a homozygous recessive white genotype that matched the sequence of the recessive white type, and the inserted sequence exhibited 98% identity with the avian leukosis virus ev-1 sequence. In comparison, brindle and normal chickens had the homozygous color genotype, and their sequences were the same as the wild-type sequence, indicating that this phenotype is derived from other mutation(s). In conclusion, white chickens have a recessive white mutation allele. Since the size of the sample used in this study was limited, further research through securing additional samples to perform validation studies is necessary. Therefore, after validation studies, a selection system for conserving the phenotypic characteristics and genetic diversity of the population could be established if additional studies to elucidate specific phenotype-related genes in Yeonsan Ogye are performed.

• 대한치과교정학회지
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• 제38권2호
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• pp.133-143
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• 2008

이 연구는 한국인 비증후군성 구순구개열자에서 구순구개열과 치아결손의 중요한 원인 중 하나로 의심되는 MSX1 유전자(locus chromosome 4p16)의 특성을 밝히기 위해 시행되었다. 1998년부터 2002년까지 부산대학교병원 치과교정과에 내원한 36명(남자:23, 여자:13)의 비증후군성 구순수 개열자를 대상으로 하였다. 모든 대상의 혈액을 채취하여 중합 효소연쇄반응(polymerase chain reaction)에 기초한 유전자 분석을 시행하여, MSX1 유전자를 증폭하고, 염기서열을 분석하였으며, 추론되는 단백질 생성물에 대해서도 연구하였다. 이미 밝혀진 Homo sapiens MSX1, accession number AF426432와 NP_002439를 참고로 하여 비교 분석한 결과 공통적인 단일 염기 다형성이 존재하였다. exon 1에서, 253번째 부위의 염기 "A"가 "G"로 치환되었고, 255번째 부위에서 염기 "G"가 삽입되었다. exon 2에서 11번째 부위에서 염기"C"가 "A"로 치환되었고, 351부위에서 염기"T" 또는 "G"가 삽입되었고 352부위에서 염기"T" 또는 "A"가 삽입되었다. 한국인 비증후군성 구순구개열자에서 다른 인종에서 발견된 돌연변이와는 다른 "Thr85A1a" missense 돌연변이가 발견되었다. 이는 한국인 비증후군성 구순구개열에서도 MSX1 유전자가 중요한 원인이 될 수 있고 한국인의 독특한 돌연변이가 존재한다는 가능성을 제시한 것이다. 그러나, 구개열 부위의 치아결손과 관련해서는 어떠한 유전자 특징도 관찰되지 않았다.

• Food Science and Biotechnology
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• 제15권3호
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• pp.447-452
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• 2006

To determine the functions of specific cell wall polysaccharides, polysaccharides of three mutants, mur3-1, mur3-2, and mur3-3, obtained from Arabidopsis wild type, underwent structural characterization. Upon sequential separation of pectins (RG-I and RG-II) and cross-linking glycans (xyloglucan, XG), only XG was affected by the mud mutation. Wild-type XG contained a considerable amount of fucose, whereas the fucose level in mur3 XGs was less than 20% that of wild type. Further analysis of XGs by matrix-assisted laser-induced/ionization time-of-flight (MALDI-TOF) mass spectrometry indicated that mud lines considerably or completely lost the fucosylated XG oligosaccharides such as XXFG and XLFG and the double-galactosylated oligosaccharide XLLG $^1H$-NMR spectroscopic analyses of the XG oligosaccharides from mur3-3 plant revealed the absence of fucose and a galactose level in the galactosylated side chain that was reduced by 40% compared to that of Arabidopsis wild-type plant. In contrast, 85% less fucose and a slight loss of galactose were observed in the mur3-1 and mur3-2 lines which show normal growth habit. Of the three Arabidopsis mur3 lines studied here, mur3-3 is disrupted by a T-DNA insertion in the exon of MUR3 which encodes XG-specific galactosyltransferase, and exhibits slight dwarfism. These results indicated that the T-DNA insertion at the MUR3 locus did not induce the complete loss of galactose in XG, and that galactose, rather than fucose, in the XG side chains made a major contribution to overall wall strength.

• Journal of Microbiology and Biotechnology
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• 제20권1호
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• pp.45-53
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• 2010

We have developed an efficient and precise method for genome manipulations in Bacillus subtilis that allows rapid alteration of a gene sequence or multiple gene sequences without altering the chromosome in any other way. In our approach, the Escherichia coli toxin gene mazF, which was used as a counter-selectable marker, was placed under the control of a xylose-inducible expression system and associated with an antibiotic resistance gene to create a "mazF-cassette". A polymerase chain reaction (PCR)-generated fragment, consisting of two homology regions joined to the mazF-cassette, was integrated into the chromosome at the target locus by homologous recombination, using positive selection for antibiotic resistance. Then, the excision of the mazF-cassette from the chromosome by a single-crossover event between two short directly repeated (DR) sequences, included in the design of the PCR products, was achieved by counter-selection of mazF. We used this method efficiently and precisely to deliver a point mutation, to inactivate a specific gene, to delete a large genomic region, and to generate the in-frame deletion with minimal polar effects in the same background.

• 미생물학회지
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• 제29권1호
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• pp.16-24
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• 1991

The yeast gene THR1 encodes the homoserine kinase (EC 2.7.1.39: HKase) which catalyses the first step of the threonine specific arm at the end of the common pathway for methionine and threonine biosynthesis. A recombinant plasmid pMC3 (12.6 kilobase pairs, vector YCp50) has been cloned into E. coli HB101 from a yeast genomic library through its complementing activity of a thr1 mutation in a yeast recipient strain M39-1D. When subcloned into pMC32 (8.6kbp, vector YRp7) and pMC35 (8.3 kbp, vector YIp5), the HindIII fragment (2.7 kbp) of pMC3 insery was positive in the thrI complementing activity in both yeast and E. coli auxotrophic strains. The linearized pMC35 was introduced into the original recipient yeast strain and the mitotically stable chromosomal integrant was identified among the transformants. Through the tetrad analysis, the integration site of the pMC35 was localized to the region of THR1 structural gene at an expected genetic distance of approximately 11.1 cM from the ARG4 locus on the right arm of the yeast chromosome VIII. When episomically introduced into the auxotrophic cells and cultured in Thr omission liquid medium, the cloned gene overexpressed the HKase in the order of thirteen to fifteenfold, as compared with a wildtype. HKase levels are repressed by addition of threonine at the amount of 300 mg/l and 1, 190 mg/l for pMC32 and pMC3, respectively. Data from genetic analysis and HKase response thus support that the cloned HindIII yeast DNA fragment contains the yeast thr1 structural gene, along with necessary regulatory components for control of its proper expression.

• 대한의생명과학회지
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• 제27권3호
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• pp.177-181
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• 2021

Allergy is an immune response that appears in certain people, and reactions such as coughing, shortness of breath, and hives occur. The immune system plays an important role in homeostasis and host defense, and allergies cause hypersensitivity reactions when an imbalance of immunity occurs. Mutations in the TLR genes are associated with autoimmune conditions such as allergies and asthma. It has been reported that a locus in the TLR1-TLR6-TLR10 region may be associated with atopic sensitization or allergy. Therefore, the purpose of this study was to select an allergy patient group and a healthy control group to determine how the genetic mutation of TLR1 affects the onset of disease. This study was conducted in 709 patients and 5,025 control groups out of 10,956 patients with data from KARE and HEXA cohorts. As a result of logistic regression analysis of 6 SNPs selected from the TLR1 gene, only rs117033348 showed a statistically significant correlation (P = 0.002356). The influence of rs117033348 was examined using PolyPhen-2, and a significant result was shown. Therefore, it can be predicted that the G base in rs117033348 will have an influence on the human body. In addition, Geography of Genetic Variants browser was used to confirm the geographical distribution of allele frequencies for the TLR1 gene. Although it was found that there was a large racial difference in the prevalence of TLR1 SNP, it could be confirmed that the polymorphism of rs117033348 conducted in this study was only specific in East Asia when compared with each race.