• Title/Summary/Keyword: alleles

검색결과 886건 처리시간 0.023초

원형질체(原形質體) 융합(融合)에 의한 느타리와 여름느타리버섯의 종간(種間) 교잡(交雜) (Interspecific Hybridization between Pleurotus ostreatus and Pleurotus sajor-caju by Protoplast Fusion)

  • 유영복;이행숙
    • 한국균학회지
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    • 제22권4호
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    • pp.378-385
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    • 1994
  • 느타리 Pleurotus ostreatus와 여름느타리 Pleurotus sajor-caju의 영양요구주로부터 분리한 원형질체를 polyethylene glycol로 융합하여 종간 이질핵체 heterokaryon를 획득하였다. 불화합 균주간에는 9 융합조합에서 70개 융합주를 획득하여 7 융합주의 자실체를 유도하였으며 화합 균주간에는 1조합에서 모두 자실체를 형성하였다. 화합 균주간 융합주를 제외하고는 불화합성간 융합체는 꺽쇠연결체 clamp connections가 없었고 한천배지나 액체배지에서는 자실체를 형성하지 않았다. 그러나 활엽수톱밥과 미강이 혼합된 배지에서 균사가 완전히 성장한후 일정한 광과 온도를 처리한 결과 꺽쇠연결체 있는 균사가 다시 성장하였으며 이들 균사에서 버섯자실체가 형성되었다. 버섯자실체는 양친의 중간형태로 갓 색깔도 양친이 혼합된 orange grey-brownish grey로 나타났다. 그러나 다소의 자실체 형질인 자실층 hymenium, 버섯대, 생장습성은 느타리를 닮았는데 특히 여름느타리가 단생 closely scattered인데 비해 느타리는 속생 caespitose으로 느타리와 유사하였다. 자실체는 모두 꺽쇠연결체를 가졌으며 조직배앙한 결과 균사가 모두 꺽쇠연결체를 가져 본래 융합주와는 다른 형태로 변하였다. 6융합조합 8균주의 $F^2$에서의 유전형질 분리와 유전자 재조합을 분석한 결과 원영양형 prototroph이 양친 느타리형, 여름느타리형, 영양요구성 유전자 재조합형에 비해 많이 분리되었으며 3개조합에서 양친에 없는 유전자좌가 나타났다. 자실체가 형성되지 않는 융합주 P188과 사철느타리 ASI 2-3-rib와 균사접합 한 후 임성을 유도하여 유전분석한 결과 원영양형이 적게 분리되었고 여름느타리 양친형이 분리되지 않았으며 3친주 형질이 모두 유전자 재조합형으로 분리되었다.

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Sensing the Stress: the Role of the Stress-activated p38/Hog1 MAPK Signalling Pathway in Human Pathogenic Fungus Cryptococcus neoformans

  • Bahn, Yong-Sun;Heitman, Joseph
    • 한국미생물학회:학술대회논문집
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    • 한국미생물학회 2007년도 International Meeting of the Microbiological Society of Korea
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    • pp.120-122
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    • 2007
  • All living organisms use numerous signal-transduction pathways to sense and respond to their environments and thereby survive and proliferate in a range of biological niches. Molecular dissection of these signalling networks has increased our understanding of these communication processes and provides a platform for therapeutic intervention when these pathways malfunction in disease states, including infection. Owing to the expanding availability of sequenced genomes, a wealth of genetic and molecular tools and the conservation of signalling networks, members of the fungal kingdom serve as excellent model systems for more complex, multicellular organisms. Here, we employed Cryptococcus neoformans as a model system to understand how fungal-signalling circuits operate at the molecular level to sense and respond to a plethora of environmental stresses, including osmoticshock, UV, high temperature, oxidative stress and toxic drugs/metabolites. The stress-activated p38/Hog1 MAPK pathway is structurally conserved in many organisms as diverse as yeast and mammals, but its regulation is uniquely specialized in a majority of clinical Cryptococcus neoformans serotype A and D strains to control differentiation and virulence factor regulation. C. neoformans Hog1 MAPK is controlled by Pbs2 MAPK kinase (MAPKK). The Pbs2-Hog1 MAPK cascade is controlled by the fungal "two-component" system that is composed of a response regulator, Ssk1, and multiple sensor kinases, including two-component.like (Tco) 1 and Tco2. Tco1 and Tco2 play shared and distinct roles in stress responses and drug sensitivity through the Hog1 MAPK system. Furthermore, each sensor kinase mediates unique cellular functions for virulence and morphological differentiation. We also identified and characterized the Ssk2 MAPKKK upstream of the MAPKK Pbs2 and the MAPK Hog1 in C. neoformans. The SSK2 gene was identified as a potential component responsible for differential Hog1 regulation between the serotype D sibling f1 strains B3501 and B3502 through comparative analysis of their meiotic map with the meiotic segregation of Hog1-dependent sensitivity to the fungicide fludioxonil. Ssk2 is the only polymorphic component in the Hog1 MAPK module, including two coding sequence changes between the SSK2 alleles in B3501 and B3502 strains. To further support this finding, the SSK2 allele exchange completely swapped Hog1-related phenotypes between B3501 and B3502 strains. In the serotype A strain H99, disruption of the SSK2 gene dramatically enhanced capsule biosynthesis and mating efficiency, similar to pbs2 and hog1 mutations. Furthermore, ssk2, pbs2, and hog1 mutants are all hypersensitive to a variety of stresses and completely resistant to fludioxonil. Taken together, these findings indicate that Ssk2 is the critical interface protein connecting the two-component system and the Pbs2-Hog1 pathway in C. neoformans.

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빛의 존재하에서도 유성분화를 하는 Aspergillus nidulans의 돌연변이체 분리 및 분석 (Isolation and Characterization of Aspergillus nidulans Mutants Which Undergo Sexual Development in Light Exposure)

  • 민정렬;김혜련;한갑훈;한동민
    • 미생물학회지
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    • 제43권2호
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    • pp.77-82
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    • 2007
  • 자웅동체 자낭균류인 Aspergillus nidulans의 유성분화는 다양한 외부 환경 스트레스, 즉, 아세트산을 함유한 배지, 가시광선의 조사, 높은 삼투압 조건 등에서 강하게 저해 받는다. 본 연구에서는 이에 관련된 유전자들을 분리, 분석하기 위하여 다양한 외부 환경 스트레스를 준 상태에서도 정상적으로 유성포자를 만들 수 있는 돌연변이 균주들을 분리하였다. 총 167개의 돌연변이 균주들 중에서 152종의 균주들은 각각 빛, 삼투, 아세트산 등의 조건에서 유성분화를 할 수 있었으나 두가지 이상을 동시에 주었을 때에는 유성분화를 하지 못하였다. 또한 6개의 돌연변이 균주들은 KCl 첨가 배지에서는 야생형과 변화가 없었으나 빛을 쬐거나 아세트산배지에서는 유성분화를 진행하였다. 그리고, 3개의 돌연변이 균주는 각각의 단일 스트레스 조건뿐만 아니라 KCl과 아세트산이 함께 들어있는 배지에서도 유성분화를 할 수 있었다. 이들 가운데 아세트산과 KCl 배지에서는 야생형과 표현형이 동일하나, 빛이 있는 조건에서는 야생형과 달리 유성분화를 하는 돌연변이 6균주를 얻었으며 이를 SIL 돌연변이라 칭하였다. 상보군 검정결과 이들은 모두 각각 다른 돌연변이를 가지고 있는 것으로 파악되어 silA에서 silF까지 여섯 그룹으로 명명하였고, 우열검정 결과 이들은 모두 열성임이 확인되었다. 대부분의 균주들은 각각 3종류의 스트레스 조건에서 유성분화를 하는 돌연변이들이었기 때문에, 특별하게 빛에만 반응하여 분화에 영향을 주는 유전자는 몇몇에 불과하고, 다른 스트레스들과 관련된 유전자와 연관성이 많으며, 성장에 있어서는 외부 환경 스트레스에 따른 영향은 크지 않은 것으로 사료된다.

The Combined Effect of β2- and β3-Adrenergic Receptor Genotypes on Hyperglycemic Risk in the Korean Population

  • Oh, Hyun-Hee;Kim, Kil-Soo;Park, Sun-Mi;Shin, Seung-Uoo;Yang, Hun-Sung;Yoon, Yoo-Sik
    • Preventive Nutrition and Food Science
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    • 제9권1호
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    • pp.71-78
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    • 2004
  • Adrenergic receptors play a major role in thermogenesis and lipolysis in brown and visceral adipose tissues, and have been implicated in the pathogenesis of obesity and metabolic disorders. The purpose of this study was to estimate the effects of $\beta$2-adrenergic receptor ($\beta$2AR) and $\beta$3-adrenergic receptor ($\beta$3AR) genotypes on hyperglycemia and obesity in the Korean population. A representative sample consisting of 530 Korean men and women were measured for height, weight, BMI, WHR, obesity index and body composition. The genotypes of $\beta$2AR polymorphism in codon 27 and $\beta$3AR polymorphism in codon 64 were analyzed by the PCR RFLP method. Serum concentrations of fasting glucose, total cholesterol, HDL cholesterol and triglyceride were determined. The frequencies of $\beta$2AR and $\beta$3AR genotype were: both wild type, 62.5% ; only $\beta$2AR variant type, 12.8% ; only $\beta$3AR variant type, 18.8% ; and both variant type, 5.8% ; the frequency of E and R alleles were 0.098 and 0.137, respectively. Among the physiological parameters, fasting glucose level was significantly higher in subjects with both variant type compared with the three other types (p <0.05), Subjects with both variant type had 12%, 12% and 9.3% increases in serum glucose levels compared with wild type, only $\beta$2AR variant type, and only $\beta$3AR variant type, respectively. When logistic regression analysis was conducted to estimate the risk for hyperglycemia, the subjects were selected for fasting blood glucose concentrations of more than 6.105 m㏖/L (110 mg/dL), and the odds ratios were 1.215 (p=0.636) for only $\beta$2AR variant type,1.659 (p=0.089) for only $\beta$3AR variant type, and 3.078 (p=0.011) for both variant type. These results suggest that the interaction of $\beta$2AR and $\beta$3AR variant genotypes has a strong association with increased glucose levels, and might be a significant risk factor for hyperglycemia among Korean subjects.

한우 종모우의 소 성장호르몬 유전자 다형과 정액성상과의 관계 (Relationships Between Bovine Growth Hormone Gene Polymorphism and Semen Characteristics in Hanwoo Bull)

  • 이성수;김진호;정준;박노형
    • Journal of Animal Science and Technology
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    • 제44권6호
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    • pp.693-700
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    • 2002
  • 한우 종모우에 있어 소 성장호르몬 유전자의 출현빈도를 알아보고 소 성장호르몬 다형과 정액성상과의 관계를 살펴보기 위하여 실시하였다. 한우 종모우 109두의 소 성장호르몬 유전자를 Alu I 제한효소로 처리하여 PCR-RFLP로 분석하였다. Leucine(Leu)과 valine(Val) 유전자의 출현빈도는 각각 0.88과 0.12이었다. 소 성장호르몬 VV 유전자형을 지닌 한우 종모우가 다른 유전자형을 지닌 종모우보다 정액성상(정액량, 정자농도, 총정자수)이 떨어지는 경향을 보였지만 소 성장호르몬의 유전자형이 정액성상에 유의적인 영향은 미치지 못하였다. 채취순번에 따른 영향에 있어서도 VV 유전자형을 지닌 종모우가 다른 유전자형을 지닌 종모우보다 정액성상이 떨어지는 경향을 보였지만 유의적인 차이는 나타내지는 못하였으며 다만 년도에 따른 영향에 있어 1998년도 VV 유전자형을 지닌 종모우가 다른 유전자형을 지닌 종모우보다 총정자수에 있어 유의적으로 적게 나타났다(P<0.05). 전체적으로 소 성장호르몬 유전자의 VV 유전자형을 지닌 종모우의 정액성상이 다른 유전자를 지닌 종모우의 정액성상보다 낮은 경향을 보였지만, 조사한 109두의 한우 종모우 중 VV 유전자형을 지닌 종모우가 1두로 분석되어 이 종모우의 정액성상만을 이용하여 소 성장호르몬 유전자다형이 정액성상에 미치는 영향을 살펴보았기에 종모우 선발시 기초자료로 이용하기에는 추가적인 시험이 필요할 것으로 사료된다.

Microsatellite 마커를 이용한 딸기 품종의 DNA Profile Database 구축 (Construction of DNA Profile Data Base of Strawberry Cultivars Using Microsatellite Markers)

  • 홍지화;최근진;권용삼
    • 원예과학기술지
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    • 제32권6호
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    • pp.853-863
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    • 2014
  • 국내외에서 재배되고 있는 딸기 100품종의 DNA profile 데이터베이스를 구축하기 위하여 다형성이 높은 microsatellite 마커의 선정과 유전적 유사도 분석을 통한 품종식별력 검정 등에 대한 연구를 수행하였다. 딸기 21품종을 274개의 microsatellite 마커로 검정하여 반복 재현성이 높은 25개의 다형성이 높은 마커를 선정하였다. 이들 마커와 국내외에서 재배되고 있는 딸기 100품종을 검정하였을 때 마커당 평균 대립유전자수는 7.50개로 나타났고, 3-13개까지 다양한 분포를 나타내었다. PIC 값은 마커의 유전자형에 따라 0.333-0.841 범위에 속하였으며 평균값도 0.706으로 높게 나타났다. Microsatellite 마커의 대립유전자를 이용하여 딸기 100 품종에 대한 계통도를 작성하였을 때 품종 육성의 계보 및 육성 지역에 따라 7개의 그룹으로 크게 나누어졌으며 2품종을 제외한 98품종이 microsatellite 마커의 유전자형에 의해 식별이 되는 것으로 나타났다. 본 연구에서 얻어진 딸기 품종별 DNA profile 데이터베이스는 품종보호 출원 품종의 재배심사 및 품종진위성과 관련된 종자분쟁을 해결하는 수단으로 유용하게 활용될 수 있을 것이다.

한국인 제3형 당원병 환자의 임상상 및 AGL 유전자형 (AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III)

  • 고정민;이정현;김구환;유한욱
    • 대한유전성대사질환학회지
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    • 제6권1호
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    • pp.15-23
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    • 2006
  • Purpose: Glycogen storage disease type III (GSD-III), is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme is amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), which is responsible for the debranching of the glycogen molecule during catabolism. The disease has been demonstrated to show clinical and biochemical heterogeneity, reflecting the genotype-phenotype heterogeneity among different patients. In this study, we analyzed mutations of the AGL gene in three unrelated Korean GSD-III patients and discussed their clinical and laboratory implications. Methods: We studied three GSD-III patients and the clinical features were characterized. Sequence analysis of 35exons and part exon-intron boundaries of the AGLgene in patients were carried out by direct DNA sequencing method using genomic DNA isolated from patients' peripheral leukocytes. Results: The clinical features included hepatomegaly (in all patients), seizures (in patient 2), growth failure (in patients 1), hyperlipidemia (in patients 1 and 3), raised transaminases and creatinine kinase concentrations (in all patients) and mild EKG abnormalities (in patients 2). Liver transplantation was performed in patient 2due to progressive hepatic fibrosis. Administration of raw-corn-starch could maintain normoglycemia and improve the condition. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 with c.1510_1511insT (p.Y504LfsX10), and patient 3 with c.3416 T>C (p.L1139P) and c.l735+1 G>T (Y538_R578delfsX4) mutations. Except R428K mutation, 4 other mutations identified in3 patients were novel. Conclusion: GSD-III patients have variable phenotypic characteristics resembling GSD-Ia. The molecular defects in the AGL gene of Korean GSD-III patients were genetically heterogeneous.

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Bovine leukocyte adhesion deficiency

  • Kehrli, Marcus E. Jr.;Park, Yong-ho;Yoo, Han-sang
    • 대한수의학회지
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    • 제39권2호
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    • pp.247-256
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    • 1999
  • A disease of young Holstein calves characterized by recurrent pneumonia, ulcerative and granulomatous stomatitis, enteritis with bacterial overgrowth, periodontitis, delayed wound healing, persistent neutrophilia and death at an early age had been originally described in 1983 and again in 1987. Most of these calves had stunted growth and a persistent, progressive neutrophilia (often exceeding 100,000/ml). By investigation of pedigrees, all of the affected calves have now been traced to a common sire and confirmed by polymerase chain reaction (PCR) diagnostic DNA testing to be homozygous carriers of a defective allele for bovine CD18. Neutrophils from these calves have several functional deficits and, most importantly, fail to adhere in a ${\beta}_2$-integrin dependent manner. The ${\beta}_2$-integrins represent a family of glycoproteins which participate in various leukocyte adhesion reactions during host defense. The presence or absence of ${\beta}_2$-integrin molecules can be demonstrated on the surface of neutrophils, monocytes and lymphocytes from normal or affected calves using specific monoclonal antibodies and flow cytometry, or by colloidal gold immunolabeling and scanning electron microscopy in backscatter mode. Deficiency of the ${\beta}_2$-integrins on all leukocyte types in Holstein calves is analogous to leukocyte adhesion deficiency (LAD) seen in humans. Neutrophils in bovine (BLAD) and human LAD patients are unable to adhere to the endothelial lining of the cardiovascular system thus interrupting egression of neutrophils into infected tissues. Other leukocytes, while still deficient in expression of the ${\beta}_2$-integrins, are still able to efficiently egress from the blood stream due to interactions of other adhesion molecules that are not as highly expressed on neutrophils. Both BLAD cattle and LAD children (who do not receive bone marrow transplants) often die at an early age as a result of the failure of neutrophils to extravasate into infected tissues. In 1991, Shuster, et $al^{27}$, identified two point mutations within the alleles encoding bovine CD18 in a Holstein calf afflicted with leukocyte adhesion deficiency. One mutation causes an aspartic acid to glycine substitution at amino acid 128 (D128G) in an extracellular region of this adhesion glycoprotein that is highly conserved (> 95% identity) between humans, cattle and mice. The other mutation is silent. Numerous calves with clinical symptoms of leukocyte adhesion deficiency have since been tested and all have been found homozygous for the D128G allele. In addition, calves homozygous far the D128G allele have been identified during widespread DNA testing in the United States. All cattle with the mutant allele are related to one bull, who through artificial insemination (A.I.), sired many calves in the 1950's and 1960's. The carrier frequency of the D128G CD18 allele among U.S. Holstein cattle had reached approximately 15% among active A.I. bulls and 8% among cows. By 1993, the organization of the dairy industry and the diagnostic test developed to genotype cattle, enabled virtually complete eradication of bovine leukocyte adhesion deficiency among current and future A.I. bulls.

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시료보관은행에 저장된 혈액을 이용한 납 노출의 유전적 감수성에 관한 후향성 코호트 조사 연구 - 입사 1년차 대상자 연구 (Retrospective Cohort Study on Genetic Susceptibility of Lead Exposure using Stored Blood in Specimen Bank-Focused Newly employed workers)

  • 김남수;김진호;리갑수;이성수;김화성;안규동;;이병국
    • 한국산업보건학회지
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    • 제16권2호
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    • pp.152-160
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    • 2006
  • Genotype of ALAD and VDR yields two alleles, respectively and it has been implicated in susceptibility to lead toxicity. Also genotype known to variety by race. To evaluate the genetic susceptibility of ALAD and VDR gene on health effect of lead exposure, this study was done with new workers who entered lead industries from 1992 to 2001. Among database of lead industries of Soonchunhyang University Institute of Industrial Medicine, only new workers were selected for this study. The total of eligible workers for this category was 3,540 workers including non lead exposed workers of same lead industries. Genotype of ALAD and VDR were measured from stored blood in specimen bank of Soonchunhyang University, blood lead and other relevant information were obtained from database of each workers which were gathered at their first year of employment. Among 3,540 new employed study subjects during period of 1992-2001, 3204 workers(90.5%) had ALAD genotype 1-1; whereas 336 workers(9.5%) had variant type of ALAD (1-2 or 2-2). Lead exposed workers, 9.8%(n=243) male and 8.1%(n=16) female were heterozygous for the ALAD allele. Also non lead exposed workers, 8.9%(n=67) male and 9.3%(n=10) female were heterozygous for the ALAD allele. For VDR genotype, 2,903 workers(89.7%) out of total tested 3,238 workers were belonged to type bb and 335 workers(10.3%) were type bB or BB. Lead exposed workers, 10.4%(n=235) male and 12.2%(n=24) female were heterozygous for the VDR allele. Also non lead exposed workers, 9.2%(n=64) male and 12.5%(n=12) female were heterozygous for the VDR allele. No significant differences were seen in mean blood lead levels by ALAD and VDR genotype, nor was significantly associated with blood lead except age in multiple regression analysis.

한국의 상업적 양송이 균주의 유전적 다양성 및 집단 구조 (Assessment of genetic diversity and population structure of commercial button mushroom (Agaricus bisporus) strains in Korea)

  • 이화용;안혜진;오연이;장갑열;공원식;류호진;정종욱
    • 한국버섯학회지
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    • 제17권4호
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    • pp.171-178
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    • 2019
  • 본 연구에서는 한국에서 개발한 23개의 양송이 품종과 42개의 도입품종의 유전적 다양성과 집단 구조를 SSR 마커를 이용하여 분석하였다. 양송이 품종의 NA는 약 13, HO는 약 0.59, HE는 약 0.74, PIC값은 약 0.71 이었다. 양송이 품종은 군집분석에 의하여 3개의 Group으로 구분되었고 다양한 국가의 품종으로 구성된 Group2의 다양성이 높았으며, 구조분석에 의하여 2개의 subpopulation으로 구분되었고, 품종의 수가 많은 Pop2의 다양성이 높았다. 한국의 양송이 품종들은 주로 Group 3에 분포하고, subpopulation 간 분포에는 큰 차이를 보이지 않았다. 본 연구의 결과는 양송이의 육종소재의 개발, 다양성 확보 등과 같은 품종의 개발과정에 이용될 수 있을 것이다.