• Asian-Australasian Journal of Animal Sciences
• /
• 제19권10호
• /
• pp.1384-1389
• /
• 2006

Prolactin plays an important role in mammary gland development, milk section initiation and maintenance of lactation, so the bovine prolactin gene is considered as a potential quantitative trait locus affecting milk performance traits in dairy cattle. In this study, to determine the association between prolactin and milk performance traits, the genetic polymorphisms of a part of the prolactin gene were detected in a population of 649 cows of Chinese Holstein Dairy Cattle. Three SNPs in the promoter and one SNP in the intron1 of prolactin were identified, which was A/C (-767), G/T (-485), C/A (-247), and C/T (427), respectively. Statistical results indicated that one of SNP within promote, CHBP2, was significantly associated with milk yield (p<0.01), fat yield (p<0.05), protein yield (p<0.01), and protein percentage (p<0.05). The cows with genotype BB of CHBP2 had significantly higher milk yield (p<0.01), fat yield (p<0.05), and protein yield (p<0.01) than those of cows with genotype AA, while cows with genotype AA showed the highest protein percentage (p<0.05). In addition, based on the nine major haplotypes constructed from the four SNPs, the association analysis between diplotypes and milk performance trait was carried out. Results showed that the least square mean for fat yield of diplotype H2H8 was significantly higher than those of other eleven diplotypes (p<0.05). Our findings implied that CHBP2 and H2H8 of prolactin would be useful genetic markers in selection program on milk performance traits in Holstein Dairy Cattle.

• Asian Pacific Journal of Cancer Prevention
• /
• 제15권17호
• /
• pp.7097-7103
• /
• 2014

Over-expression of de novo lipogenesis (DNL) genes is associated with the prognosis of various types of cancers. However, the effects of single nucleotide polymorphisms (SNPs) in these genes on recurrence and survival of non-small cell lung cancer (NSCLC) patients after surgery are still unknown. In this study, a total of 500 NSCLC patients who underwent surgery treatment were included. Eight SNPs in 3 genes (ACACA, FASN and ACLY) of the DNL pathway were examined using the Sequenom iPLEX genotyping system. Multivariate Cox proportional hazards regression and Kaplan-Meier curves were used to analyze the association of SNPs with patient survival and tumour recurrence. We found that two SNPs in the FASN gene were significantly associated with the recurrence of NSCLC. SNP rs4246444 had a significant association with lung cancer recurrence under additive model (hazard ratio [HR], 0.82; 95% confidence interval [95%CI], 0.67-1.00; p=0.05). Under the dominant model, rs4485435 exhibited a significant association with recurrence (HR, 0.75; 95%CI, 0.56-1.01; p=0.05). Additionally, SNP rs9912300 in ACLY gene was significantly associated with overall survival in lung cancer patients (HR, 1.41; 95%CI, 1.02-1.94, p=0.04) under the dominant model. Further cumulative effect analysis showed moderate dose-dependent effects of unfavorable SNPs on both survival and recurrence. Our data suggest that the SNPs in DNL genes may serve as independent prognostic markers for NSCLC patients after surgery.

• Asian-Australasian Journal of Animal Sciences
• /
• 제31권10호
• /
• pp.1565-1574
• /
• 2018

Objective: The aim of the present study was to identify genetic variants based on RNA-seq data, obtained via transcriptome sequencing of muscle tissue of pigs differing in muscle histological structure, and to verify the variants' effect on histological microstructure and production traits in a larger pig population. Methods: RNA-seq data was used to identify the panel of single nucleotide polymorphisms (SNPs) significantly related with percentage and diameter of each fiber type (I, IIA, IIB). Detected polymorphisms were mapped to quantitative trait loci (QTLs) regions. Next, the association study was performed on 944 animals representing five breeds (Landrace, Large White, Pietrain, Duroc, and native Puławska breed) in order to evaluate the relationship of selected SNPs and histological characteristics, meat quality and carcasses traits. Results: Mapping of detected genetic variants to QTL regions showed that chromosome 14 was the most overrepresented with the identification of four QTLs related to percentage of fiber types I and IIA. The association study performed on a 293 longissimus muscle samples confirmed a significant positive effect of transforming acidic coiled-coil-containing protein 2 (TACC2) polymorphisms on fiber diameter, while SNP within forkhead box O1 (FOXO1) locus was associated with decrease of diameter of fiber types IIA and IIB. Moreover, subsequent general linear model analysis showed significant relationship of FOXO1, delta 4-desaturase, sphingolipid 1 (DEGS1), and troponin T2 (TNNT2) genes with loin 'eye' area, FOXO1 with loin weight, as well as FOXO1 and TACC2 with lean meat percentage. Furthermore, the intramuscular fat content was positively associated (p<0.01) with occurrence of polymorphisms within DEGS1, TNNT2 genes and negatively with occurrence of TACC2 polymorphism. Conclusion: This study's results indicate that the SNP calling analysis based on RNA-seq data can be used to search candidate genes and establish the genetic basis of phenotypic traits. The presented results can be used for future studies evaluating the use of selected SNPs as genetic markers related to muscle histological profile and production traits in pig breeding.

• 대한본초학회지
• /
• 제30권3호
• /
• pp.41-47
• /
• 2015

Objectives : Due to the morphological similarity of the pericarp and description of multi-species in National Pharmacopoeia of Korea and China, the Zanthoxylum Pericarpium is difficult to authenticate adulterant in species levels. Therefore, we introduced the sequence analysis of DNA barcode and identification of single nucleotide polymorphism(SNP) to establish a reliable tool for the distinction of Zanthoxylum Pericarpium from its adulterants. Methods : To analyze DNA barcode region, genomic DNA was extracted from twenty-four specimens of authentic Zanthoxylum species and inauthentic adulterant and the individual internal transcribed spacer regions (rDNA-ITS and ITS2) of nuclear ribosomal RNA gene were amplified using ITS1, ITS2-S2F, and ITS4 primer. For identification of species-specific sequences, a comparative analysis was performed using entire DNA barcode sequences. Results : In comparison of four Zanthoxylum ITS2 sequences, we identified 16, 4, 6, and 4 distinct species-specific nucleotides enough to distinguish Z. schinifolium, Z. bungeanum, Z. piperitum, and Z. simulans, respectively. The sequence differences were available genetic marker to discriminate four species. Futhermore, phylogenetic relationship revealed a clear classification between different Zanthoxylum species showing 4 different clusters. These results indicated that comparative analysis of ITS2 DNA barcode was an useful genetic marker to authenticate Zanthoxylum Pericarpium in species levels. Conclusions : The marker nucleotides, enough to distinguish Z. schinifolium, Z. piperitum, Z. bungeanum, and Z. simulans, were obtained at 30 SNP marker nucleotides from ITS2 sequences. These differences could be used to authenticate official Zanthoxylum Pericarpium from its adulterants as well as discriminating each four species.

• 생명과학회지
• /
• 제27권7호
• /
• pp.760-766
• /
• 2017

본 연구는 Lysophospholipase I (LYPLA1) 유전자의 SNP 마커인 rs385360448 g.23655332G>C의 유전자형이 제주도 한우와 제주흑한우(한우${\times}$제주흑우, JCC) 집단의 도체형질에 미치는 영향을 시험하였다. 한우 거세우 집단에서 LYPLA1 rs385360448 G/-를 보유한 도체는 C/C 동형접합에 비해 유의적으로 높은 수준의 근내지방도(MARB)와 조직감지수(TI)를 나타내었다(p<0.05). 반면, LYPLA1 유전자형은 도체중, 등지방두께, 등심단면적, 육색, 지방색에서는 유의적인 차이를 보이지 않았다(p>0.05). JCC 거세우에서는 LYPLA1 G/- 도체에서 C/C 동형접합에 비해 등심단면적(EMA)의 수준이 유의적으로 더 높았다(p<0.05). 이번 연구의 결과들은 LYPLA1 유전자형이 소의 등심에서 인지질 대사를 통해 근내지방도와 조직감의 수준과 등심단면적의 수준을 변화시킬 수 있음을 보여주고 있다. 이러한 결과들은 LYPLA1 유전자형이 한우와 제주흑우-유래의 산업화축군에서 도체형질을 개선할 수 있는 유전자 마커로써의 기능을 수행할 수 있을 것으로 기대된다.

• 한국자원식물학회:학술대회논문집
• /
• 한국자원식물학회 2019년도 춘계학술대회
• /
• pp.62-62
• /
• 2019

Bacterial leaf blight(BLB), caused by X. oryzae pv. oryzae(Xoo), is one of the most destructive diseases of rice due to its high epidemic potential. Understanding BLB resistance at a genetic level is important to further improve the rice breeding that provides one of the best approaches to control BLB disease. In the present investigation, a collection of 192 accessions was used in the genome-wide association study (GWAS) for BLB resistance loci against four Korean races of Xoo that were represented by the prevailing BLB isolates under Xoo differential system. A total of 192 accessions of rice germplasm were selected on the basis of the bioassay using four isolated races of Xoo such as K1 and K2. The selected accessions was used to prepare 384-plex genotyping by sequencing (GBS) libraries and Illumina HiSeq 2000 pairedend read was used for GBS sequencing. GWAS was conducted using TASSEL 5.0. The TASSEL program uses a mixed linear model (MLM). The results of the bioassay using a selected set of 192 accessions showed that a large number of accessions (93.75%) were resistant to K1 race and K2 resistant germplasm proportion remained between 66.67. The genotypic data produced SNP matrix for a total of 293,379 SNPs. After imputation the missing data was removed, which exhibited 34,724 SNPs for association analysis. GWAS results showed strong signals of association at a threshold of [-log10(P-value)] more than 5 (K1 and K2) for nine of the 39 SNPs, which are plausible candidate loci of resistance genes. These SNP loci were positioned on rice chromosome 2, 9, and 11 for K1 and K2 races. The significant loci detected have also been illustrated and make the CPAS markers for NBS-LRR type disease resistance protein, SNARE domain containing protein, Histone deacetylase 19, NADP-dependent oxidoreductase, and other expressed and unknown proteins. Our results provide a better understanding of the distribution of genetic variation of BLB resistance to Korean pathogen races and breeding of resistant rice.

• Journal of Plant Biotechnology
• /
• 제43권3호
• /
• pp.261-271
• /
• 2016

세계적인 과수작물로서의 경제적 중요성에도 불구하고, 감귤 생산은 주로 자연교잡 실생이나 눈 돌연변이로부터의 선발 또는 단순 품종 도입 등을 통해 이루어지고 있는 실정이다. 긴 유년기, 다배성, 자가불화합성과 같은 감귤 고유의 식물학적 특성, 주요 형질들(병저항성, 수량성, 품질 등)의 QTL에 의한 조절 등은 전통 육종을 통한 우수 품종의 개발을 어렵게 하는 요인이다. 지구 온난화에 의한 생산 여건의 급격한 변화, 소비자 요구 다양화 등은 고품질 감귤의 조기 선발과 안정적 생산, 품종 다양화, 육종 비용 절감 등을 위한 체계적인 감귤 분자육종 프로그램의 도입을 요구하고 있다. 동위효소를 이용한 최초의 감귤 연관지도 작성이 이루어진 이래, 다양한 분자표지를 이용한 연관지도 작성, 생물(CTV, CiLV, ABS, 선충] 및 비생물적(염분, 저온) 스트레스, 아포믹시스, 다배성, 과실착색(카로티노이드, 안토시아닌), 무종자, 웅성불임, 신맛 적음, 생식, 형태(나무, 잎, 꽃, 열매 등), 과실 품질, 종자수, 수량성, 조기 착과 등과 연관된 분자표지 발굴, QTL 맵핑 등이 이루어졌다. CTV 저항성과 적육(안토시아닌 축적) 형질에 대해서는 유전자 클로닝이 이루어졌고, 교배 육종 효율 증대 및 비용 절감을 위해 교잡배와 주심배를 구분하기 위한 다수의 simple sequence repeat (SSR) 분자표지가 개발되었다. 최근, 스위트오렌지와 '클레멘타인' 만다린에 대한 고품질의 표준 유전체가 완성되어 유전체 기반 감귤 분자육종을 위한 토대가 마련되었다. 표준 유전체 정보를 토대로 대규모 분자표지(SNP, SSR, InDel) 기반의 표준 연관 및 물리지도 작성, 비교 유전체 지도 작성, gene annotation, 전사체 분석 등이 활발히 이루어지고 있다. 감귤 유전자원 및 핵심집단에 대해 표준 유전체 기반 비교 유전체 분석, GBS (genotyping-by-sequencing), GWAS (genome wide association study) 등을 통해 감귤의 다양한 형질과 연관된 분자마커 발굴 및 개발, 유용/변이 유전자 클로닝 등에 관한 연구가 가속화될 것으로 전망된다. 또한 표적 유전체 교정 및 VIGS (virus-induced gene silencing) 기술도 유전자 마커의 검증을 비롯한 감귤 분자육종 프로그램에 활발히 이용될 것이다.

• Journal of Ginseng Research
• /
• 제38권2호
• /
• pp.130-135
• /
• 2014

Background: Panax ginseng, the most famous medicinal herb, has a highly duplicated genome structure. However, the genome duplication of P. ginseng has not been characterized at the sequence level. Multiple band patterns have been consistently observed during the development of DNA markers using unique sequences in P. ginseng. Methods: We compared the sequences of multiple bands derived from unique expressed sequence tagsimple sequence repeat (EST-SSR) markers to investigate the sequence level genome duplication. Results: Reamplification and sequencing of the individual bands revealed that, for each marker, two bands around the expected size were genuine amplicons derived from two paralogous loci. In each case, one of the two bands was polymorphic, showing different allelic forms among nine ginseng cultivars, whereas the other band was usually monomorphic. Sequences derived from the two loci showed a high similarity, including the same primer-binding site, but each locus could be distinguished based on SSR number variations and additional single nucleotide polymorphisms (SNPs) or InDels. A locus-specific marker designed from the SNP site between the paralogous loci produced a single band that also showed clear polymorphism among ginseng cultivars. Conclusion: Our data imply that the recent genome duplication has resulted in two highly similar paralogous regions in the ginseng genome. The two paralogous sequences could be differentiated by large SSR number variations and one or two additional SNPs or InDels in every 100 bp of genic region, which can serve as a reliable identifier for each locus.

• 한국가금학회지
• /
• 제36권4호
• /
• pp.323-328
• /
• 2009

닭의 품종 기원을 결정하거나 유전적 변이의 정도를 확인 하는데 미토콘드리아 DNA D-loop 염기서열을 이용하여 오고 있다. 본 연구는 한국재래계 갈색종과 흑색종, 로드아일랜드레드종, 코니쉬종의 4품종 41개체의 염기서열을 분석함으로 품종간의 유전적 연관관계를 확인하였다. 그 결과 총 10개의 haplotype를 확인할 수 있었으며, haplotype 1과 2는 가장 많은 수인 8개체씩이 포함되었다. 계통도 분석을 통해 한국재래계 흑색종과 갈색종은 haplotype 2를 모두 가지고 있는 것으로 확인되었으며, 이 haplotype은 적색야계와 유전적으로 가깝게 위치한 것을 알 수 있었다. 본 연구를 통해 D-loop 염기서열 변이가 품종 판별 마커로 이용 가능성이 있는지 확인하였다. 그 결과 여러 단일염기다형 마커의 조합으로 품종의 구분이 가능할 것으로 추정되며, 앞으로 더 많은 연구가 진행되어야 할 것으로 생각된다. 이 연구의 결과는 한국재래계의 보존 및 육종계획 수립과 더불어 품종판별 마커의 개발의 기초 자료를 제공할 것으로 생각된다.

• Journal of Plant Biotechnology
• /
• 제42권4호
• /
• pp.290-297
• /
• 2015

배나무는 원산지와 분화방향에 따라 유럽, 미국, 호주 등에서 주로 재배되는 서양배와 중국, 일본, 한국 등 동남 아시아 지역을 중심으로 분포 및 재배되고 있는 동양배로 구분된다. 17개의 기본염색체를 가진 배나무는 대부분 이배성(2n=2x=34)이며, 단일 S 유전자좌에 의해 조절되는 자가불화합성과 과수 작물의 주요 특징인 유년성으로 인해 유전 연구 및 정밀한 품종 육성에 큰 제한을 받고 있다. 배나무속 식물의 유전연구는 분자생물학 관련 기술의 발달로 다양한 형태의 분자 표지의 개발이 이루어짐과 동시에 유연관계분석, 유전자지도작성, QTL 분석과 같은 다양한 유전연구에 활발히 이용되었다. 또한 배나무의 유전자지도는 병 저항성이나 다양한 유용형질과 연관된 QTL 확인을 위한 연구로 이어지고 있다. 대량 병렬 반응 및 다중처리를 토대로 획기적인 염기서열 분석 비용의 감소를 이뤄낸 NGS 기술은 대용량, 고효율, 저비용으로 식물 유전체 해독을 가능하게 하여, 중국배 'Danshansuli'와 유럽배 'Bartlett'에서 유전체 분석이 완료되었다. 최근 국내에서는 황금배, 청실리 및 미니배의 resequencing 및 GBS를 통한 SNP 탐색 등의 연구를 통해 화기, 숙기 당도 등 농업적으로 유용형질에 대한 게놈전체 연관분석을 수행하고 있다.