• 제목/요약/키워드: Y chromosome

검색결과 2,147건 처리시간 0.035초

VPS26b-VPS29-VPS35 리트로머 복합체 결여가 마우스 뇌조직에 미치는 영향 (Deletion of the VPS26b-VPS29-VPS35 Retromer Complex Results in Learning Disabilities and Neurodegeneration)

  • 김익균
    • 생명과학회지
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    • 제30권8호
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    • pp.708-712
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    • 2020
  • 리트로머(retromer)는 VPS26, VPS29, VPS35 분자로 구성된 복합체로, 세포막에 존재하는 특정 단백질을 엔도솜에서 트렌스골지망으로 리사이클에 관여하는 단백질 복합체이다. 2000년대 초반 콜롬비아대학의 Scott A, Small 팀에 의해서, 알츠하이머 환자에서 리트로머 분자의 발현량이 저하된다는 것을 발견하였으며, 리트로머를 구성하는 VPS35 발현을 저하시킨 마우스를 이용한 Morris Water Maze (MWM) 실험에서 인지능력이 떨어진다는 것을 보고 하였다. 본 연구진은 리트로머를 구성하는 VPS26 분자에 대한 서브타입인 VPS26b를 발견하였고, 낙아웃 마우스를 제작하였다. VPS26b 낙아웃 마우스 뇌조직을 이용한 웨스턴 블롯 결과, 낙아웃 마우스 뇌조직에서 VPS29와 VPS35의 발현량의 50% 정도로 감소되는 것을 확인하였다. 또한, VPS29 낙아웃 마우스를 이용하여 MWM실험은 한 결과 인지능력이 저하되는 것을 확인하였으며 뇌조직의 해마 CA3영역의 세포 분포도가 정상마우스에 비해 감소되는 것을 확인하였다. 결과적으로 이번 연구를 통하여 VPS26b 낙아웃 마우스는 뇌질환 연구에 대한 실험 동물로서 기초 자료를 제공할 수 있을 것임을 보여준다.

Salmonella typhimurium 외막 단백질 OmpW의 발현조절 및 기능에 관한 연구 (Regulation of an Outer Membrane Protein, OmpW, Expression and Its Biological Function in Salmonell typhimurium)

  • 유아영;유종언;양지선;김영희;백창호;오정일;강호영
    • 생명과학회지
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    • 제18권11호
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    • pp.1606-1611
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    • 2008
  • Salmoenella를 포함한 그람 음성 세균의 외막 단백질들은 외부 환경 조건에 따라 그 발현에 변화가 생기는 경우가 많으며, 이렇게 발현된 외막 단백질들은 수송에 관여하는 통로, 외부 물질의 인지, 병원체의 부착인자 등 다양한 기능을 가진다. 본 연구에서는 이러한 외막 단백질 중 소수성 porin으로 알려진 OmpW 단백질에 주목하였다. ompW 유전자가 결손된 돌연변이주를 구축하여 CK10으로 명명하였으며, 야생주와 그 표현형적 특징을 비교한 결과 SDS에 대한 내성이 다소 증가함을 확인할 수 있었다. OmpW 특이적인 다클론성 항체를 조제하여 OmpW 단백질의 발현연구에 사용하였다. NaCl의 농도가 높아질수록 OmpW 단백질의 발현이 감소하였으며, OmpW의 발현이 최대인 조건은 NaCl이 배지에 첨가되지 않았을 경우이다. 따라서 OmpW는 Salmonella 균이 삼투환경에 대응하는데 관여할 것으로 예상되어 일차적으로 균의 생육을 조사한 결과, 다양한 삼투환경 하에서 Salmonella의 생육에는 OmpW 단백질의 결손이 큰 영향을 미치지는 않는 것을 확인하였다. 삼투환경 변화에 따른 OmpW 발현의 변화가 지니는 생물학적 의미는 앞으로 연구해야 할 숙제로 남는다.

Identification of Functional and In silico Positional Differentially Expressed Genes in the Livers of High- and Low-marbled Hanwoo Steers

  • Lee, Seung-Hwan;Park, Eung-Woo;Cho, Yong-Min;Yoon, Duhak;Park, Jun-Hyung;Hong, Seong-Koo;Im, Seok-Ki;Thompson, J.M.;Oh, Sung-Jong
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권9호
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    • pp.1334-1341
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    • 2007
  • This study identified hepatic differentially expressed genes (DEGs) affecting the marbling of muscle. Most dietary nutrients bypass the liver and produce plasma lipoproteins. These plasma lipoproteins transport free fatty acids to the target tissue, adipose tissue and muscle. We examined hepatic genes differentially expressed in a differential-display reverse transcription-polymerase chain reaction (ddRT-PCR) analysis comparing high- and low-marbled Hanwoo steers. Using 60 arbitrary primers, we found 13 candidate genes that were upregulated and five candidate genes that were downregulated in the livers of high-marbled Hanwoo steers compared to low-marbled individuals. A BLAST search for the 18 DEGs revealed that 14 were well characterized, while four were not annotated. We examined four DEGs: ATP synthase F0, complement component CD, insulin-like growth factor binding protein-3 (IGFBP3) and phosphatidylethanolamine binding protein (PEBP). Of these, only two genes (complement component CD and IGFBP3) were differentially expressed at p<0.05 between the livers of high- and low-marbled individuals. The mean mRNA levels of the PEBP and ATP synthase F0 genes did not differ significantly between the livers of high- and low-marbled individuals. Moreover, these DEGs showed very high inter-individual variation in expression. These informative DEGs were assigned to the bovine chromosome in a BLAST search of MS marker subsets and the bovine genome sequence. Genes related to energy metabolism (ATP synthase F0, ketohexokinase, electron-transfer flavoprotein-ubiquinone oxidoreductase and NADH hydrogenase) were assigned to BTA 1, 11, 17, and 22, respectively. Syntaxin, IGFBP3, decorin, the bax inhibitor gene and the PEBP gene were assigned to BTA 3, 4, 5, 5, and 17, respectively. In this study, the in silico physical maps provided information on the specific location of candidate genes associated with economic traits in cattle.

Impact of HER2 and PTEN Simultaneous Deregulation in Non-small Cell Lung Carcinoma: Correlation with Biological Behavior

  • Panagiotou, Ioannis;Georgiannos, Stavros N.;Tsiambas, Evangelos;Karameris, Andreas;Konstantinou, Marios;Lazaris, Andreas C.;Kavantzas, Nikolaos;Vilaras, George;Patsouris, Efstratios
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권12호
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    • pp.6311-6318
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    • 2012
  • Background: HER2/neu overexpression due to gene amplification is an important factor in breast cancer, modifying the sensitivity to anti-HER2 monoclonal antibody therapy. The clinical significance of HER2 expression in non small cell lung carcinoma (NSCLC) is currently under evaluation. The tumor suppressor gene PTEN negatively regulates the HER2/PI3K/Akt signalling pathway. The purpose of this study was to evaluate the role of simultaneous alteration in HER2 and PTEN protein expression in relation to biological behaviour of NSCLCs. Materials and Methods: Protein expression was determined by immunohistochemistry in sixty-one (n=61) NSCLC cases along with CISH for HER2 gene analysis and detection of chromosome 17 aneuploidy. Patients were followed-up for a period of 34 to 41 months after surgery. Results: HER2 overexpression (2+/3+score) was detected in 17 (27.9%) patients while loss of PTEN expression was observed in 24 (39.3%) cases, low expression in 29 (47.6%) and overexpression in 8 (13.1%). Simultaneous HER2 overexpression and PTEN low/loss of expression were correlated with metastasis (71.4% vs 36.2% p=0.03). Analysis in the subgroup of 22 patients of pTNM stage III with lymph node status N1 or N2 revealed that there was a relationship between the number of positive regional lymph node groups and simultaneous deregulation of the two genes (p=0.04). Multivariate analysis determined that HER2 overexpression was associated with an increasing risk of developing metastases (OR: 4.3; 95%CI: 1.2-15.9; p: 0.03) while PTEN overexpression was associated with lower risk (OR: 0.1; 95%CI: 0.1, 1.0; p: 0.05). Conclusions: Simultaneous HER2/PTEN deregulation is a significant genetic event that leads to a more aggressive phenotype of NSCLC.

Association of 8 Loci on Chromosome 8q24 with Prostate Carcinoma Risk in Northern Chinese Men

  • Zhao, Cheng-Xiao;Liu, Ming;Wang, Jian-Ye;Xu, Yong;Wei, Dong;Yang, Kuo;Yang, Ze
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권11호
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    • pp.6733-6738
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    • 2013
  • Multiple genetic studies have confirmed association of 8q24 variants with susceptibility to prostate cancer (PCa). As PCa risk SNPs may also influence disease outcome, we studied here eight 8q24 risk alleles, and evaluated their role in PCa clinical covariates in northern Chinese men. Blood samples and clinical information were collected from ethnically Chinese men from Northern China with histologically-confirmed PCa (n=289) and from age-matched normal controls (n=288). Eight 8q24 SNPs were genotyped by polymerase chain reaction-high- resolution melting analysis in 577 subjects. We examined the prevalence distribution of 8q24 risk alleles and analyzed the associations between the risk allele and PCa and clinical covariates to infer their impact on aggressive PCa. Three of the eight SNPs were associated with PCa risk in northern Chinese men, including rs16901966 (OR 1.31, 95% CI 1.01-1.70, p=0.042), rs1447295 (OR 1.47, 95% CI 1.09-1.98, p=0.011) and rs10090154 (OR 1.55, 95% CI 1.14-2.12, p=0.005). Haplotype analysis based association with the risk alleles revealed significant differences between cases and controls (OR 1.43, 95%CI 0.99-2.06, p=0.049). The risk alleles rs16901966, rs1447295 and rs10090154 were associated with age at diagnosis and tumor stage as compared with controls, while rs16901966 was associated with aggressive PCa (OR 1.43, 95% CI 1.01-2.03, p=0.042). The evidence for 8q24 SNPs with PCa risk in northern Chinese men showed rs16901966, rs1447295 and rs10090154 at 8q24 (region 1, region 2) to be strongly associated with PCa and clinical covariates. The three SNPs at 8q24 could be PCa susceptible genetic markers in northern Chinese men.

노랑초파리 난자 형성과정 동안의 경계세포의 분화 (Differentiation of Border Cells During Oogenesis in Drosophila melanogaster)

  • 계명찬;조경상;이정주
    • 한국발생생물학회지:발생과생식
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    • 제2권1호
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    • pp.45-52
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    • 1998
  • 강화인자 검출법을 이용 X염색체에 P[1ArB]이 형질전환되어 극세포 및 경게세포에서 표시유전자 lacZ를 발현하는 노랑초파리 (EDL 149)를 이용하여 난자형성과정 동안의 경계새포의 분화 및 이동을 조사하였다. 경계세포는 9기 난포의 선단에 위치한 난포 세포로부터 분화하여 9기와 10기에 이동하는 것을 확인하였다. 난소내 \beta -galactosidase의 활성은 우화 후 처음 4일간 급격히 증가하는 것을 확인하였으며 이 시기는 난포 내에서 경계세포가 분화하는 시기와 일치하였다. EDL149의 P[1ArB]삽입의 동형접합체의 난포 내에서 일부 경계세포의 불완전한 이동 또는 지연이 관찰되었다. 감수분열을 진행중인 정소내 세포 및 더듬이에서 확인된 lacZ 유전자의 발현양상은 P[1ArB]의 삽입부위가 난소특이 유전자부위가 아니지만 경계세포 이동의 조절에 역할을 하는 유전자임을 암시한다. 이 형질전환초파리 및 삽입위치 부근의 유전자는 발생중 진행되는 세포이동의 연구에 좋은 모델로 생각된다.

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Utilizing chromosome segment substitution lines (CSSLs) to evaluate developmental plasticity of root systems in hardpan penetration and deep rooting triggered by soil moisture fluctuations in rice

  • Nguyen, Thi Ngoc Dinh;Suralta, Roel R.;Mana, Kano-Nakata;Mitsuya, Shiro;Stella, Owusu Nketia;Kabuki, Takuya;Yamauchi, Akira
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.321-321
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    • 2017
  • Water availability in rainfed lowlands (RFL) is strongly affected by climate change. In RFL, rice plants are exposed to soil moisture fluctuations (SMF) but rarely to simple progressive drought as widely believed. Typical RFL field is characterized by a about 5-cm thick high bulk density hardpan layer underneath the cultivated layer at about 20 cm depth that impedes deep root development. Root system has the ability to develop in response to changes in SMF, known as phenotypic plasticity. We hypothesized that genotypes that can adapt to RFL have root plasticity. The roots can sharply respond to re-wetting after drought period and thus penetrate the hardpan layer when the hardpan is wet and so becomes relatively soft, and thus access water under the hardpan. This study aimed to identify CSSLs derived from a cross between Sasanishiki and Habataki which adapted to such RFL conditions. We used 39 CSSLs together with the parent Sasanishiki, which were grown in hydroponics and pot under transient soil moisture stresses (drought and then rewatering), and compared with continuously well-watered (WW) (control) up to 14 days after sowing (DAS), and 20 DAS, respectively. Based on the results of hydroponics and pot experiments, we selected a few lines, which were grown in the soil-filled rootbox with artificial hardpan layer and without artificial hardpan. For the rootbox without artificial hardpan, plants were grown under WW and transient soil moisture stresses for 49 DAS. While the rootbox with artificial hardpan, the plants were grown under WW (control) and SMF (WW up to 21 DAS, 1st drought (22-36 DAS), rewatering (37-44 DAS), and followed by 2nd drought (45-58 DAS)). Among the 39 CSSLs, only CSSL439 (SL39) consistently showed significantly higher shoot dry weight (SDW) than Sasanishiki under transient soil moisture stress conditions as well as SMF conditions in all the experiments. Furthermore, under WW, SL39 consistently showed no significant differences from Sasanishiki in shoot and root growth in most of traits examined. SL39 showed significantly greater total root length (TRL) than Sasanishiki under transient soil moisture stress, which is considered as phenotypic plasticity in response to rewatering after drought period. Such plastic root development was the key trait that effectively contributed to root elongation and branching during the rewatering period and consequently enhanced the root to penetrate hardpan layer when the soil penetration resistance at hardpan layer reduced. In addition, using the rootbox with artificial hardpan layer ($1.7g\;cm^{-3}$, heavily compacted), SL39 showed greater root system development than Sasanishiki under SMF, which was expressed in its significantly higher TRL, total nodal RL, and total lateral RL at hardpan layer as well as at below the hardpan layer. These results prove that SL39 has plasticity that enables its root systems to penetrate hardpan layer in response to rewatering. Under SMF, such root plasticity contributed to its higher gs and Pn.

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Identification of the quantitative trait loci for breaking and bending types lodging resistance in rice, using recombinant inbred lines derived from Koshihikari and a strong culm variety, leaf star

  • Samadi, Ahmad Fahim;Yamamoto, Toshio;Ueda, Tadamasa;Adachi, Shunsuke;Hirasawa, Tadashi;Ookawa, Taiichiro
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.93-93
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    • 2017
  • To develop rice cultivars with increased biomass and grain yield, superior lodging resistance is an essential trait. The new breeding approach can be adopted for the improvement of stem lodging resistance by enhancing culm strength. The resistance to breaking type lodging is attributed to bending moment of basal culm (M), which is composed of the section modulus (SM) and bending stress (BS). The resistance to the bending type lodging is attributed to flexural rigidity (FR) of stem, which is composed of the secondary moment of inertia (SMI) and Young's modulus (YM). Starch and cell wall components such as cellulose, hemicellulose and lignin also play a significant role in physical strength of culm, and thus affect lodging. Leaf Star has a superior lodging resistance due to its thick and stiff culm because of its high M and FR compared with Koshihikari. Furthermore, Leaf Star contains high densities of hemicellulose, cellulose and low lignin density in culm compared with Koshihikari. In this study, we performed QTL analysis for these traits associated with culm strength, using 94 recombinant inbred lines (RILs, $F_8$), derived from a cross between Leaf Star and Koshihikari. The SM in the RILs showed a continuous distribution. QTLs for SM were detected on chrs.2, 3 and 10. Leaf Star alleles increased SM on chrs. 2 and 3, but Koshihikari allele increased on chr.10. These QTLs overlapped with those QTLs identified using backcrossed inbred line derived from a cross between Chugoku 117 and Koshihikari, the parents of Leaf Star. The FR in Leaf Star was higher than that in Koshihikari due to the larger SMI and YM. 3 QTLs for SMI were detected on chrs.2, 3 and 10. Leaf Star alleles increased SMI on chrs.2 and 3, and Koshihikari alleles increased on chr.10. One QTL on chr.3 and two QTLs on chr.5 for hollocelulose content were detected with Leaf Star alleles contribution. Moreover, two QTLs were detected for hemicellulose density on chrs.3 and 5. Leaf Star allele increased hemicellulose density on chr.5, and Koshihikari allele increased on chr.3. Furthermore, two QTLs for cellulose density were detected on chr.5, and one QTL on chr.2. For starch content, one QTL on chr.3 and two QTLs on chr.5 with Leaf Star alleles contribution were detected. TULK-6 carrying a chromosome segment of Leaf Star on chr.5 in the Koshihikari genetic background showed higher densities of starch and hemicellulose than those in Koshihikari. These results suggest that the detected QTLs for culm strength could be utilized for the improvement of lodging resistance in rice by marker-assisted selection.

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QTLs analysis associated with a major agronomic traits in hanareum2×unkwang rice recombinant inbred line

  • Lee, Ji Yoon;Cho, Jun Hyeon;Kang, Ju Won;Shin, Dong Jin;Kim, Tae Heon;Song, You Chun;Han, Sang Ik;Park, Dong Soo;Son, Young Bo;Cho, Su Min;Oh, Myeong Kyu
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.101-101
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    • 2017
  • This study was carried out to improve yield potential of Tongil type rice variety based on QTLs analysis associated with yield component using a total of 386 rice recombinant inbred lines (RILs) derived from a cross between Tongil type high yield variety "Hanareum2" and Japonica variety "Unkwang". 384 SNP markers were used, and 241 of them (62.6%) were polymorphic between Hanareum2 and Unkwang. One hundred forty-four QTLs in 11 traits, such as heading days, were detected. Most of them were 21 QTLs associated with 1000 grain weight and the least was 8 QTLs associated with panicle number. The QTL, qDTH3-2 associated with days to heading was identified to delay heading date for 2.4~2.6 day. Eleven QTLs were associated with culm length. The QTL, qCL1-2 on chromosome 1, was identified to decrease culm length. A total of 16 QTLs were detected for panicle length. Three QTLs, qPL3, qPL6, and qPL7-1 were increased panicle length. Seven QTLs related to panicle number except qPN7 were increased the number of panicle. Four QTLs related to grain number per panicle, qGNP2-1, qGNP6, and qGNP7, were increased the number of grains. Three QTLs associated with grain filling rate, qGFR1, qGFR2-2, and qGFR7-1 were increased grain filling rate. Twelve QTLs associated with 1,000 grain weight. were increased the grain weight. Fourteen QTLs were identified associated with grain length. 10 QTLs, such as qGL1-1, were increasing grain. Fifteen QTLs associated with grain width were detected. The 8 QTLs, such as qGW1-1, were elongated grain width. Seventeen QTLs were associated with grain thickness, and ten QTLs of them were increased grain thickness. We need further study to develop introgression lines of each QTL to improve yield potential of Tongil type rice variety.

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고추의 Tobamovirus 저항성 L 유전자좌와 연관된 대립유전자 특이적인 마커 세트 (A Set of Allele-specific Markers Linked to L Locus Resistant to Tobamovirus in Capsicum spp.)

  • 이준대;한정헌;윤재복
    • 원예과학기술지
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    • 제30권3호
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    • pp.286-293
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    • 2012
  • 고추에 있어서 Tobamovirus 저항성은 고추 염색체 11번 긴 팔 끝부분에 위치한 L 유전자좌의 다섯 개 대립유전자($L^0$, $L^1$, $L^2$, $L^3$, and $L^4$)에 의해 조절된다고 알려져 있다. 표현형 분석 없이 L 대립유전자를 구분할 수 있는 분자표지를 개발하기 위해서 다섯 개의 고추 판별 계통{Capsicum annuum Early California Wonder(ECW, $L^0L^0$), C. annuum Tisana($L^1L^1$), C. annuum Criollo de Morelos 334(CM334,$L^2L^2$), Capsicum chinense PI 159236($L^3L^3$), and Capsicum chacoense PI 260429($L^4L^4$)}을 식물재료로 사용하였다. 대립유전자 특이적 분자표지는 고추 판별 계통에 대해 $L^3$ 연관 분자표지(189D23M, A339, and 253A1R)와 BAC 염기서열(FJ597539 and FJ597541)의 PCR 증폭산물 염기서열을 비교 분석하여 개발되었다. 총 53개의 상용 고추 품종 중 48개에서 분자표지에 의한 추정 유전자형과 Tobamovirus{Tobacco mosaic virus(pathotype 0, $P_0$), Tomato mosaicvirus($P_1$), and Pepper mild mottle virus($P_{1,2}$)} 접종 표현형과 일치했다. 결과적으로 본 연구에서 개발된 분자표지는 고추 육종에 있어서 TMV 저항성 도입에 필요한 선발마커로 충분히 활용될 수 있을 것이다.