• 제목/요약/키워드: Marker density

검색결과 198건 처리시간 0.03초

Chromosome-specific polymorphic SSR markers in tropical eucalypt species using low coverage whole genome sequences: systematic characterization and validation

  • Patturaj, Maheswari;Munusamy, Aiswarya;Kannan, Nithishkumar;Kandasamy, Ulaganathan;Ramasamy, Yasodha
    • Genomics & Informatics
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    • 제19권3호
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    • pp.33.1-33.10
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    • 2021
  • Eucalyptus is one of the major plantation species with wide variety of industrial uses. Polymorphic and informative simple sequence repeats (SSRs) have broad range of applications in genetic analysis. In this study, two individuals of Eucalyptus tereticornis (ET217 and ET86), one individual each from E. camaldulensis (EC17) and E. grandis (EG9) were subjected to whole genome resequencing. Low coverage (10×) genome sequencing was used to find polymorphic SSRs between the individuals. Average number of SSR loci identified was 95,513 and the density of SSRs per Mb was from 157.39 in EG9 to 155.08 in EC17. Among all the SSRs detected, the most abundant repeat motifs were di-nucleotide (59.6%-62.5%), followed by tri- (23.7%-27.2%), tetra- (5.2%-5.6%), penta- (5.0%-5.3%), and hexa-nucleotide (2.7%-2.9%). The predominant SSR motif units were AG/CT and AAG/TTC. Computational genome analysis predicted the SSR length variations between the individuals and identified the gene functions of SSR containing sequences. Selected subset of polymorphic markers was validated in a full-sib family of eucalypts. Additionally, genome-wide characterization of single nucleotide polymorphisms, InDels and transcriptional regulators were carried out. These variations will find their utility in genome-wide association studies as well as understanding of molecular mechanisms involved in key economic traits. The genomic resources generated in this study would provide an impetus to integrate genomics in marker-trait associations and breeding of tropical eucalypts.

Optimal population size to detect quantitative trait loci in Korean native chicken: a simulation study

  • Nwogwugwu, Chiemela Peter;Kim, Yeongkuk;Cho, Sunghyun;Roh, Hee-Jong;Cha, Jihye;Lee, Seung Hwan;Lee, Jun Heon
    • Animal Bioscience
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    • 제35권4호
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    • pp.511-516
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    • 2022
  • Objective: A genomic region associated with a particular phenotype is called quantitative trait loci (QTL). To detect the optimal F2 population size associated with QTLs in native chicken, we performed a simulation study on F2 population derived from crosses between two different breeds. Methods: A total of 15 males and 150 females were randomly selected from the last generation of each F1 population which was composed of different breed to create two different F2 populations. The progenies produced from these selected individuals were simulated for six more generations. Their marker genotypes were simulated with a density of 50K at three different heritability levels for the traits such as 0.1, 0.3, and 0.5. Our study compared 100, 500, 1,000 reference population (RP) groups to each other with three different heritability levels. And a total of 35 QTLs were used, and their locations were randomly created. Results: With a RP size of 100, no QTL was detected to satisfy Bonferroni value at three different heritability levels. In a RP size of 500, two QTLs were detected when the heritability was 0.5. With a RP size of 1,000, 0.1 heritability was detected only one QTL, and 0.5 heritability detected five QTLs. To sum up, RP size and heritability play a key role in detecting QTLs in a QTL study. The larger RP size and greater heritability value, the higher the probability of detection of QTLs. Conclusion: Our study suggests that the use of a large RP and heritability can improve QTL detection in an F2 chicken population.

Testicular fat deposition attenuates reproductive performance via decreased follicle-stimulating hormone level and sperm meiosis and testosterone synthesis in mouse

  • Miao Du;Shikun Chen;Yang Chen;Xinxu Yuan;Huansheng Dong
    • Animal Bioscience
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    • 제37권1호
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    • pp.50-60
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    • 2024
  • Objective: Testicular fat deposition has been reported to affect animal reproduction. However, the underlying mechanism remains poorly understood. The present study explored whether sperm meiosis and testosterone synthesis contribute to mouse testicular fat deposition-induced reproductive performance. Methods: High fat diet (HFD)-induced obesity CD1 mice (DIO) were used as a testicular fat deposition model. The serum hormone test was performed by agent kit. The quality of sperm was assessed using a Sperm Class Analyzer. Testicular tissue morphology was analyzed by histochemical methods. The expression of spermatocyte marker molecules was monitored by an immuno-fluorescence microscope during meiosis. Analysis of the synthesis of testosterone was performed by real-time polymerase chain reaction and reagent kit. Results: It was found that there was a significant increase in body weight among DIO mice, however, the food intake showed no difference compared to control mice fed a normal diet (CTR). The number of offspring in DIO mice decreased, but there was no significant difference from the CTR group. The levels of follicle-stimulating hormone were lower in DIO mice and their luteinizing hormone levels were similar. The results showed a remarkable decrease in sperm density and motility among DIO mice. We also found that fat accumulation affected the meiosis process, mainly reflected in the cross-exchange of homologous chromosomes. In addition, overweight increased fat deposition in the testis and reduced the expression of testosterone synthesis-related enzymes, thereby affecting the synthesis and secretion of testosterone by testicular Leydig cells. Conclusion: Fat accumulation in the testes causes testicular cell dysfunction, which affects testosterone hormone synthesis and ultimately affects sperm formation.

남일벼 돌연변이 유래 중간찰 계통의 작물학적 특성 및 배유특성 지배유전자위 표지 (Agronomic and Genetic Evaluation on a Dull Mutant Line Derived from the Sodium Azide Treated 'Namil', a Non-Glutinous Japonica Rice)

  • 전재범;정지웅;조성우;김우재;하기용;강경호;고재권;김현순;김보경
    • 한국작물학회지
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    • 제60권4호
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    • pp.448-457
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    • 2015
  • 다양한 가공제품을 개발하여 쌀 소비를 확대시키기 위하여 가공용도에 적합한 물성을 지닌 벼 품종을 개발하려는 노력이 계속되고 있는데, 특히 중간찰은 현미밥, 떡, 과자, 식혜, 술 등 다양한 가공식품 소재로 이용성이 높다. 국립식량과학원에서는 조생, 다수성 품종인 '남일'에 돌연변이원으로 아지드화나트륨을 처리하여 다수의 배유변이 계통을 확보한바 있다. 본 연구는 중간찰 특성을 발현하는 'Namil(SA)-dull1'의 작물학적 특성을 평가하고 아밀로스 함량을 지배하는 주동유전자위의 염색체상 위치를 규명하고자 수행되었다. 주요 결과는 아래와 같다. 1. 생산력 시험을 통해 'Namil(SA)-dull1'의 주요 작물학적 특성을 평가한 결과, 원품종인 '남일'에 비해 출수는 약 9일정도 늦은 중생종으로 간장과 수당립수가 유의하게 증가하였으나, 수수와 천립중은 다소 감소하여 수량성은 다소 낮게 평가되었다. 2. 'Namil(SA)-dull1'과 통일형인 '밀양23호'와의 교잡에서 유래한 94개 $F_2$ 개체로 구성된 유전분석집단에 대해 53개 SSR 마커의 유전자형을 검정하고, $F_{2:3}$ 종자의 아밀로스 함량을 조사하여 연관성분석(association analysis)를 수행한 결과 목표 유전자위는 염색체 6번 하단으로 추정되었다. 3. 염색체 6번 하단부위의 분자표지 밀도를 높이기 위하여 8개 SSR 마커를 추가로 배치하여 연관성분석을 수행한 결과, 염색체 6번 하단을 표지하는 RM7555의 유전자형변이가 유전분석집단의 아밀로스 함량변이의 81%를 설명한다는 것을 확인하였다. 4. 유전자지도 작성에 사용된 분자표지들이 표지하는 염색체 부위를 벼 전장유전체정보(rice pseudomolecule)에서 확인한 결과, 중간찰 특성을 지배하는 유전자위를 염색체 6번 28.95~29.89 Mbp 영역에 해당하는 약 0.94 Mbp 절편으로 제한할 수 있었으며, 향후 추가분리집단을 이용하여 목표 유전자를 동정하고 다양한 아밀로스 함량을 지니는 벼 신품종 육성의 효율성을 제고할 수 있는 초정밀분자표지를 개발할 계획이다.

Brassica A genome의 최근 연구 동향 (Current status of Brassica A genome analysis)

  • 최수련;권수진
    • Journal of Plant Biotechnology
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    • 제39권1호
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    • pp.33-48
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    • 2012
  • 작물의 구조와 기능을 이해하려는 과학적 탐구심과 이를 작물 육종에 적용하려는 실험적 노력의 일환으로 다양한 작물에서 유전자 지도가 개발되었다. 특히, 배추과 작물의 경우 모델식물인 애기장대의 유전체 정보가 공개된 이후 다양한 정보 (염기서열 정보, 유전자 구조 및 기능정보 등)의 이용이 가능해져 유전자 지도 작성이 가속화 되었으며 이는 최근 $B.$ $rapa$ A genome (배추)유전체 해독이라는 결과를 가져왔다. 배추과 작물의 유전자 지도 작성에 있어서 초기에는 RFLP 마커들이 사용되었으나 이후 분자마커, 즉, RAPD, AFLP, SSR 등과 같이 비교적 사용이 간단하고 시간적 제약이 없는 PCR 마커의 형태로 점차 바뀌었다. 배추과 작물의 경제적, 학문적 가치가 고려되어 $B.$ $rapa$ (배추)를 표준재료로 A genome 유전체 염기서열 해독이라는 목표로 다국적 유전체 프로젝트가 결성되었고 2011년 국내연구진이 주도적으로 참여한 국제 컨소시엄 (BrGSPC, $B.$ $rapa$ Genome Sequencing Project Consortium)에 의해 배추 (10개 염색체)의 유전자 영역(gene space), 약 98% (83.8 Mb)의 염기서열이 해독되어 발표되었다. 유전체 해독 과정에서 축적된 염기서열 정보는 대량의 SSR, SNP, IBP 마커의 개발을 가능하게 하였고 이들 마커는 $B.$ $rapa$ A genome 유전자 지도와 물리 지도 작성에 이용되어 이후 배추과 작물연구 전반에 널리 적용되고 있다. 대량의 분자마커 개발은 유전자 지도 작성을 가속화하여 더욱 정밀한 유전자 지도를 가능하게 하였고 공통의 분자마커 정보는 애기장대와 배추과 작물 간 비교유전체 연구를 통해 농업적 우수 형질의 클로닝, 마커도움선발 (MAS)등의 방법으로 분자육종의 기반을 제공하고 있다. 뿐만 아니라. 최근 등장한 NGS 유전체 해독 기술로 생산된 대량의 정보는 분자육종 실현 가능성을 높여 분자육종 실용화에 박차를 가하는 계기가 되고 있다. 본 논문에서는 $B.$ $rapa$에서 분자마커를 이용한 유전자 지도 개발의 과정과 농업적 유용형질 탐색을 위한 양적 형질 유전자좌 (QTLs)의 연구 현황에 대하여 알아보고 유전체연구에서 유전자 지도의 중요성과 육종에의 응용에 대하여 서술하였다. 또한 다양한 유전체 정보와 오믹스 정보를 국내 배추과 분자육종에 효율적으로 활용하여 분자육종 실용화를 가능하게 하기 위해 사용자가 쉽게 사용할 수 있는 데이터베이스를 구축함으로서 연구자와 육종가 간의 간격을 좁히고 원활한 정보교환의 필요성을 제기하였다.

Dlx3 Plays a Role as a Positive Regulator of Osteoclast Differentiation

  • Cha, Ji-Hun;Ryoo, Hyun-Mo;Woo, Kyung-Mi;Kim, Gwan-Shik;Baek, Jeong-Hwa
    • International Journal of Oral Biology
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    • 제32권3호
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    • pp.85-91
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    • 2007
  • Dlx3 is a homeodomain protein and is known to playa role in development and differentiation of many tissues. Deletion of four base pairs in DLX3 (NT3198) is causally related to tricho-dento-osseous (TDO) syndrome (OMIM # 190320), a genetic disorder manifested by taurodontism, hair abnormalities, and increased bone density in the cranium. Although the observed defects of TDO syndrome involves bone, little is known about the role of Dlx3 in bone remodeling process. In this study, we examined the effect of wild type DLX3 (wtDlx3) expression on osteoclast differentiation and compared it with that of 4-BP DEL DLX3 (TDO mtDlx3). To examine whether Dlx3 is expressed during RANKL-induced osteoclast differentiation, RAW264.7 cells were cultured in the presence of receptor activator of nuclear factor-B ligand (RANKL). Dlx3 protein level increased slightly after RANKL treatment for 1 day and peaked when the fusion of prefusion osteoclasts actively progressed. When wtDlx3 and TDO mtDlx3 were overexpressed in RAW264.7 cells, they enhanced RANKL-induced osteoclastogenesis and the expression of osteoclast differentiation marker genes such as calcitonin receptor, vitronectin receptor and cathepsin K. Since osteoclast differentiation is critically regulated by the balance between RANKL and osteoprotegerin (OPG), we examined the effect of Dlx3 overexpression on expression of RANKL and OPG in C2C12 cells in the presence of bone morphogenetic protein 2. Overexpression of wtDlx3 enhanced RANKL mRNA expression while slightly suppressed OPG expression. However, TDO mtDlx3 did not exert significant effects. This result suggests that inability of TDO mtDlx3 to regulate expression of RANKL and OPG may contribute to increased bone density in TDO syndrome patients. Taken together, it is suggested that Dlx3 playa role as a positive regulator of osteoclast differentiation via up-regulation of osteoclast differentiation-associated genes in osteoclasts, as well as via increasing the ratio of RANKL to OPG in osteoblastic cells.

Overexpression of Astrocyte Elevated Gene-1 (AEG-1) in Cervical Cancer and its Correlation with Angiogenesis

  • Yu, Jian-Qin;Zhou, Qing;Zhu, Hua;Zheng, Fei-Yun;Chen, Zhi-Wen
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권6호
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    • pp.2277-2281
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    • 2015
  • Objectives: To explore the expression of astrocyte elevated gene-1 (AEG-1) in cervical cancer and analyze its correlation with microvascular density (MVD), nuclear factor kappaB (NF-kB p65) and vascular endothelial growth factor (VEGF). Materials and Methods: Immunohistochemical MaxVision method was adopted to detect the expression level of AEG-1, NF-kB p65 and VEGF in 45 samples of invading cervical cancer and 12 samples of cervicitis from The First Affiliated Hospital of Wenzhou Medical University. Tumor microvascular endothelial marker CD34 combined with Weidner was used to determine the MVD in cervical cancer tissue. The positive expression and staining conditions of AEG-1, NF-kB p65 and VEGF in cervical cancer tissues were observed under a light microscope. Correlations between expression of AEG-1 protein and those of NF-Kb p65 and VEGF, as well as MVD, were analyzed using Pearson correlation. Results: The expression levels of AEG-1 were $0.186{\pm}0.043$ in cervical cancer and $0.051{\pm}0.002$ in chronic cervicitis (p<0.01). Moreover, expression of AEG-1 was related to vascular invasion and lymphatic metastasis of cervical cancer (p<0.01), but not with age of the patients, differentiation degree, tumour size, pathological type and parametrial infiltration (p>0.05). Pearson correlation analysis showed that the expression of AEG-1 was linked with NF-kB p65 (r=0.501, p=0.000), VEGF (r=0.718, p=0.000) as well as MVD in cervical cancer tissue (r=0.815, p=0.000). Conclusions: AEG-1 is highly expressed in cervical cancer and promotes angiogenesis, which might be related to the fact that AEG-1 activating the signal pathway of NF-kB could up-regulate the level of VEGF expression.

한국인 성인 여성의 생화학적 골대사지표 및 골밀도와 일반적 특성과의 관계 (Biochemical Bone Turnover Markers, Bone Mineral Density, and General Characteristics in Korean Women)

  • 김화영;허영란
    • 한국식품영양과학회지
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    • 제42권2호
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    • pp.195-202
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    • 2013
  • 본 연구는 20대부터 50대까지의 광주, 전남에 거주하는 180명의 건강한 성인 여성을 대상으로 진행되었다. 골대사지표로 골형성지표인 BAP와 OC, 골흡수지표인 NTx를 측정하였으며 골밀도로는 T-score를 이용하였다. 일반적 특징으로 영향 요인으로 연령, 음주, 신체 활동량, 골다공증에 대한 가족력, 폐경, 건강기능성식품 섭취 여부, BMI, 체지방률을 분석하였다. 연령에 따라 비교했을 때 BAP와 OC는 20대가 다른 나이군에 비해 낮았고 음주군은 비음주군에 비해 BAP가 더 높았다. 활동 정도에 따라서는 차이가 없었고 골다공증에 대한 가족력이 있는 군은 골다공증에 대한 가족력이 없는 군에 비해 BAP가 더 높았다. 또한 폐경군은 폐경전군에 비해 BAP가 더 높았으며 건강보조식품 섭취 여부에 따라서는 생화학적 골대사지표나 골밀도의 차이가 없었다. BMI에 따라서는 생화학적 골대사지표 및 골밀도의 차이가 없었지만 체지방률에 따라 분류했을 때는 정상군에 비해 비만군의 BAP가 더 높았고 골밀도는 더 낮았다. 이상의 결과로 보아 노령군, 음주, 골다공증에 대한 가족력, 폐경, 비만이 있는 경우 골형성지표가 증가하였고 특히 비만군에서 골밀도가 낮은 것을 확인하였다. 따라서 골대사지표로 보았을 때, 한국인 여성들은 골 건강을 위해서 나이가 증가함에 따라 음주 및 비만 관리가 중요함을 시사하였다.

빈회재발형 소아 신증후군에서 스테로이드에 의한 골다공증에 미치는 $1-{\alpha}(OH)D3$의 효과 (Effect of $1-{\alpha}(OH)D_3$ on Steroid Induced Bone Loss in Frequently Relapsing Childhood Nephrotic Syndrome)

  • 조병수;김덕윤
    • Childhood Kidney Diseases
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    • 제1권1호
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    • pp.13-16
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    • 1997
  • 스테로이드에 의한 골다공증은 특히 성장하는 소아 신증후군에서 심각한 문제이다. 이러한 경우에 활성형 비타민 D원알파, 일성신약)를 1년간 투여하고 그 효과를 보기 위하여 여러가지 골대사 지표를 치료 전후에 검사하여 보았다. 대상 환자는 40명의 빈회재발형 신증후군 환아이며, 본 연구를 시작하기전까지 환자의 스테로이드 치료기간은 $50{\pm}29$ 개월 이었다. 성인에서 골형성지표로서 잘알려진 혈청 osteocalcin(ng/ml)은 치료전 $7.75{\pm}3.34$, 치료후 $9.38{\pm}5.06$으로 증가 되었고, 골 흡수 지표로 장 알려진 소변 pyridinoline(nmol/mmol Cr)은 치료전 $417.26{\pm}250.98$, 치료후 $462.59{\pm}265.15$로 증가되어 소아 에서 골대사 지표로서 유의하지 않았다. 그러나 골밀도는 $0.71{\pm}0.016$에서 $0.73{\pm}0.015$로 의미 있게 증가하였다(p<0.05). 스테로이드에 의한 골다공증때 활성형 비타민의 투여로 골다공증을 예방할 수 있을것으로 사료되며, 골 형성 및 골 흡수의 지표로서 성인에서 많이 쓰이는 검사법은 소아의 경우는 예민하지 않았으며, 골밀도 검사만이 유의한 것으로 나타났다.

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실험적 외상성 뇌손상모델에서 외상 후 저체온법의 효과 - TUNEL과 β-APP Immunohistochemical Stain - (Effects of Posttraumatic Hypothermia in an Animal Model of Traumatic Brain Injury(TBI) - Immunohistochemical Stain by TUNEL & β-APP -)

  • 안병길;하영수;현동근;박종운;김준미
    • Journal of Korean Neurosurgical Society
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    • 제29권4호
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    • pp.461-470
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    • 2000
  • Objective : Many investigators have demonstrated the protective effects of hypothermia following traumatic brain injury(TBI) in both animals and humans. It has long been recognized that mild to moderate hypothermia improves neurologic outcomes as well as reduces histologic and biochemical sequelae after TBI. In this study, two immunohistochemical staining using terminal deoxynucleotidyl-transferase-mediated biotin dUTP nick end labeling(TUNEL), staining of apoptosis, and ${\beta}$-amyloid precursor protein(${\beta}$-APP), a marker of axonal injury, were done and the authors evaluated the protective effects of hypothermia on axonal and neuronal injury after TBI in rats. Material and Method : The animals were prepared for the delivery of impact-acceleration brain injury as described by Marmarou and colleagues. TBI is achieved by allowing of a weight drop of 450gm, 1 m height to fall onto a metallic disc fixed on the intact skull of the rats. Fourty Sprague-Dawley rats weighing 400 to 450g were subjected to experimental TBI induced by an impact-acceleration device. Twenty rats were subjected to hypothermia after injury, with their rectal temperatures maintained at $32^{\circ}C$ for 1 hour. After this 1-hour period of hypothermia, rewarming to normothermic levels was accomplished over 30-minute period. Following 12 hours, 24 hours, 1 week and 2 weeks later the animals were killed and semiserial sagittal sections of the brain were reacted for visualization of the apoptosis and ${\beta}$-APP. Results : The density of ${\beta}$-APP marked damaged axons within the corticospinal tract at the pontomedullary junction and apoptotic cells at the contused cerebral cortex were calculated for each animal. In comparison with the untreated controls, a significant reduction in ${\beta}$-APP marked damaged axonal density and apoptotic cells were found in all hypothermic animals(p<0.05). Conclusion : This study shows that the posttraumatic hypothermia result in substantial protection in TBI, at least in terms of the injured axons and neurons.

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