본 연구는 제주지역에서 사육되고 있는 제주 재래돼지기반의 제주흑돈(제주재래돼지 합성돈)에 대하여 산육형질인 등지방 두께, 일당증체량, 90 kg 도달일령에 대한 후보유전자 탐색을 위해 전장유전체 분석을 실시하였고, 유전체 육종가의 정확도 비교를 위해 베이지안 방법(BayesB, BayesC), π(0.00, 0.50, 0.90, 0.99)값과 개체 자신과 후대의 정보만 포함하고 조상의 정보에 대해 정보를 보정한 DEBVexcPA (Deregressed EBV exlude parents average)와 부모 평균을 포함한 DEBVincPA (Deregressed EBV include parents average)의 반응변수를 이용하였다. 산육형질에 대한 전장유전체 분석을 실시한 결과 등지방두께는 KIAA1549 유전자(SSC18 at 11Mb region), 일당증체량과 90 kg 도달일령에서 POLD3(SSC9 at 9Mb region), STX6(SSC9 at 134Mb region) 유전자가 공통적으로 탐색되었다. 유전체의 정확도 범위는 일당증체량 BayesB의 경우 DEBVexcPA와 DEBVincPA에서 각각 0.285~0.305와 0.497~0.510과 BayesC에서 0.287~0.296와 0.499~0.511으로 추정되었다. 90 kg 도달일령은 BayesB에서 DEBVexcPA와 DEBVincPA는 각각 0.284~0.305와 0.497~0.510, BayesC에서는 0.284~0.296와 0.498-0.511로 추정되었다. 특히, 등지방두께의 유전체 정확도가 BayesB방법론의 DEBVincPA에서 0.625로 가장 높게 추정되었다. 제주흑돈의 산육형질에 대한 유전적인 개량 속도를 가속화하기 위해 유전체 선발법을 적용하는데 있어 부모 평균을 포함한 DEBVincPA (Deregressed EBV include parents average)의 반응변수를 이용하는 것이 바람직하다고 판단된다.

According to Livestock Inspection Standards, the piglets enter the feedlot at approximately 30 kg, and the inspection starts after the preliminary feeding period. The reason for applying the preliminary feeding period is to select inspection piglets with no diseases after the complete growth of the internal organs until 10 weeks of age. Furthermore, the age of 10 week is the time when the muscle fibers grow to their maximum size and the piglets are prepared for fat deposition at the later fattening period. In the study, a genome-wide association study (GWAS) was performed through the mlma command of the genome-wide complex trait analysis (GCTA) program with 703 purebred Landrace population, and the candidate genes associated with the weight of 10 week were searched. The GWAS identified 3 single nucleotide polymorphism (SNP) markers, which have a significant genome-wide suggestive level, on chromosome 6 (DIAS0002615; p-value=1.62×10-6, MARC0083933; p-value=4.94×10-6, ASGA0028717; p-value=5.40×10-6). The 2 genes (Ubiquitin protein ligase E3 component n-recognin 4; UBR4, WD and tetratricopeptide repeats 1; WDTC1) in which these 3 SNP markers are located are positional candidate genes of the weight of 10 week of the purebred Landrace population. 2 candidate genes have been reported to be associated with fattening. Therefore, the positional candidate genes in this study, UBR4 and WDTC1, are expected to be usable as genes for traits associated with the weight of 10 week weight and fattening through additional experimental research with other population.

돼지의 생시체중은 생존율과 폐사율에 밀접한 관련이 있어 양돈산업에서 자돈 관리와 직결된 중요한 경제형질이다. 본 연구는 Genome-Wide Association Study(GWAS) 분석을 통해 순종 랜드레이스의 생 시체중과 관련된 위치상 후보유전자 탐색을 실시하였다. 생시체중의 유의적 관련 분석 결과, genomewide suggestive level에서 유의성 있는 single nucleotide polymorphism(SNP) marker는 3번 염색체 (ASGA0098921, P=2.41×10-5)와 4번 염색체(H3GA0013451, P=2.47×10-5)에서 각각 1개씩 동정되었다. 이들 SNP marker가 위치한 3개의 유전자(LOC110260055, LOC100156472, LOC100157689)들은 순종 랜드레이스 생시체중의 위치상 후보 유전자이며, 이들 유전자 정보를 이용해서 순종 랜드레이스 생시 체중을 선발할 수 있는 기초 연구 자료가 될 것으로 사료된다.

In the swine industry, growth related traits are important economic traits directly linked to profitability. Representative growth traits include daily gain, back fat thickness, and carcass weight. This study was conducted to search for positional candidate genes associated with the carcass weight through a genome-wide association study(GWAS) using suggestive levels of statistical thresholds in pigs. As a result of the genome-wide analysis of the associations with carcass weight, the single nucleotide polymorphism(SNP) markers with suggestive significance were identified in 1 SNP marker on chromosome 2(ALGA0015365) and 1 SNP marker on chromosome 4(ALGA0023678). We could select positional 2 candidate genes, located close to the SNP markers with suggestive significance levels. The SNP markers in adjacent to the 2 genes(LOC100519538, LOC100737583) may provide basic data regarding the marker-assisted selection for the carcass weight trait in pigs.

Genetic polymorphisms within immunity-related candidate genes in pigs have been identified to control variations in immune functions and/or disease resistance. It has become necessary to evaluate the effects of other genetic markers of economically important traits prior to introducing them into marker-assisted selection programs. In this study, polymorphisms of porcine genes coding Interferon-induced Gunylate binding protein 1 (GBP1), GBP2, CD163, and CD169 were investigated for their association with growth and meat quality traits in a Korean native pig breed -Yorkshire inter-crossed F2 pig population (KY-F2). KY-F2 animals (n=346) have been successfully used for linkage mapping to identify quantitative loci that control meat quality, growth, and immunity traits. In our results, polymorphisms in genes GBP1 and GBP2 showed association with pig growth rate as well as meat quality traits such as crude fat, drip loss, and meat color (yellowness) in the KY-F2 population. The polymorphism in gene CD163 only showed association with crude fat, as a meat quality trait. CD169 gene was associated with pork tenderness. In conclusion, four immune-related genetic markers were validated for their association with growth and meat quality traits to gauge their potential use in a swine selection program. The results warrant further studies in other commercial pig populations.

This experiment was conducted to investigate the genetic effects of candidate genes on the growth of spleen and liver tissues using dietary Curcuma longa (C. longa) supplementation. Expression analyses of candidate genes regarding animal growth was performed in order to determine the factors affecting the growth related to immune components of Curucumin, Turmerone, and Zingiberene as the bile secretion Paratolyl methyl carbinol (PTMC). The animals were divided into four groups of five chicks supplied with experimental diets of C. longa at 0.25, 0.5 and 1% and controls. The 19 growth-related genes were known to cell maturation, differentiation significant expression patterns in this analysis. Expression of growth response-related genes in chicks supplemented with 1% of C. longa showed better growth performance than chicks with 0.25 and 0.5% in spleen (p<0.05). The IGF1, MSTN, POU1F1, ADCYAP1 gene were known to central roles in mediating gonadotropin function, regulating steroidogenesis and promoting oocyte growth and maturation. Sex steroids, androgen and estrogen can affect sex differentiation and also can affect muscle development. On the other hand, GHSR and FABP3 gene showed significant expression patterns in this analysis. The results would be used as basic information for the variation of growth-related genes expression on the cell growth, sex cell growth, and sex hormones according to dietary supplementation with C. longa in chickens.

노화란 시간경과에 따라 생체기능의 불가역적인 저하로 치매, 뇌혈관질환, 고혈압, 암 등과 같은 노화관련 질병이 생겨나며, 세포들이 생명력을 잃어가는 일련의 현상이다. 노화로 인한 대표적인 질병은 퇴행성 뇌 질환에 의한 알츠하이머, 치매와 파킨슨병이 있다. 이 병들은 초기의 변화가 두드러지지 않아 조기 진단이 어렵고, 질병의 진행을 막는데 어려움이 있다. 이를 해결할 방법으로 유전자 지표를 개발하는 것이 중요한 과제라 할 수 있는데, 본 연구는 노화 동물모델인 SAMP1 마우스를 대조군인 SAMR1 마우스를 비교하여 노화의 초기단계에 차등 발현하는 유전자를 확인하여 향후 노화와 연관 지표를 발굴하기 위하여 실시되었다. 먼저, 성장단계인 8주령과 노화초기진행단계인 26주령의 뇌 조직에서의 차등발현 유전자를 발굴하고자 cDNA chip 분석을 수행하였고, 신뢰성을 가지고 생물학적 변이를 검출할 수 있는 유전자는 13,939개의 유전자를 발굴하였다. 이들 중 발현이 2-fold 이상 증감하는 유전자들을 조사한 결과, 2,029개의 유전자를 선별할 수 있었다. 또한, 기능별로 분류한 결과 노화가 진행되는 과정에서 총 증가 혹은 감소한 유전자의 개수는 660개였으며, 이 중 노화와 연관성이 높은 유전자는 74개였다. 26주령에 증가양상을 보인 것이 46개, 감소양상을 보인 유전자가 28개로 밝혀졌다. 이를 검증하기 위해 노화와 관련된 유용한 유전자인 Wnt7a, Prkcb, Dgke가 선별되어 real-time qPCR을 수행하였다. 그 결과 Wnt7a 유전자는 노화가 진행됨에 따라 발현양이 급격히 감소하여 노화 초기 단계의 지표로 활용이 가능할 것으로 사료된다. 반면에 Prkcb 유전자는 성장단계의 발현량에는 관계없이 노화초기단계에서 억제됨을 확인하였고, Dgke는 성장단계부터 유전자 발현이 억제되어 노화에 영향을 미칠 것으로 판단된다.

돼지의 육질과 관련하여 지방침착의 중요도가 높아짐에 따라 지방대사 또는 지방축적과 관련한 후보유전자 발굴 을 위해 등지방 조직 유래의 cDNA microarray를 이용하여 품종별 지방함량관련 조직의 유전자 발현 양상을 분석하 였다. 그 결과 재래돼지의 등지방 조직에서 SCD (stearoyl-CoA desaturase)와 ELOVL6 (elongation of very long chain fatty acid 6)가 높은 발현을 보였고, 간에서 FMO1 (hepatic flavin-containing mono oxygenase)이 높은 발현을 보였으며, 요크셔는 간에서 FGG (fibrinogen gamma polypeptide)와 C3d (com- plement component c3d), 등지방에서 COL3A1 (type Ⅲ collagen alpha 1)이 높은 발현을 보이는 것을 확인하였다. Real-time PCR을 통해 microarray data의 validation과 품종간 유전자 발현량을 비교하여, 위의 유전자들 중 지방함량에 따른 차등발현 유전자로 SCD, ELOVL6 그리고 FGG를 선정하였다. 선정된 유전자 SCD, ELOVL6, FGG는 지방대사에 관여하며 근내지방 함량에도 영향을 미쳐 향후 육질개선에 유용한 후보유전자로 서 활용가능성을 제시하였다.

The objective of this study was to find out candidate genes associated with litter size trait in pigs of inbred Large Yorkshire and Landrace populations. 86 sows were screened for candidate genotypes along with litter size data recordings. Association of litter size with genotypes of candidate genes were investigated to verify the usefulness of each gene's genotypes as markers for the trait. For the lines of Large Yorkshire, PRLR3 and RBP4 genes were genotyped. Frequency distribution of PRLR3 with genotypes AA, AB and BB were each 0.14, 0.44 and 0.42. And the average litter size by PRLR3 genotypes were 8.83, 10.81 and 10.70 piglets per litter, the average estimated breeding values of which were 0.243, 0.332, 0.365, respectively for AA, AB and BB genotypes. Genotypic frequencies of RBP4 by AA, AB and BB genotypes were 0.10, 0.44 and 0.46. The average litter size by genotypes of RBP4 were 10.40, 10.57 and 10.35 piglets per litter and their corresponding average estimated breeding values were 0.451, 0.353 and 0.261, respectively for genotypes AA, AB and BB. Significance in differences among genotypes were not observed, but B allele of RBP4 seems to be associated with litter size. In Landrace lines, frequencies of RBP4 genotypes, AA, AB and BB were 0.29, 0.55 and 0.16. And the average litter size of these genotypes were 10.50, 11.08 and 11.00 piglets per litter. The corresponding averages of estimated breeding values of each genotypes were 0.172, 0.135 and 0.104. In Landrace lines, allele A was more likely to be associated with litter size, even if differences among average litter size were not significant. We conclude that genotyping of two candidate genes is a helpful tool to identify genetic potentials of litter size in pigs.

The relationship of several candidate genes polymorphisms with breeding values of economic traits were investigated in Korean Native Pigs. Record (2001-2006) of 546 Korean native pigs were obtained from National Institute of Animal Science, Korea having data on average daily gain (ADG), age at 70 kg (D70 kg) and backfat thickness (BF). The data's obtained were analyzed by the DF-REML (Derivative-Free Restricted Maximum Likelihood) program of Boldman using a single-trait animal model to analyse the genetic parameters. The analysis of restriction fragment length polymorphism (RFLP) was conducted on 68 Korean native pigs (KNP) using single nucleotide polymorphism (SNP). Different genotype frequencies of 5 candidate genes such as MC4R, PRKAG3, FABP3, ESR and PRLR3 were observed in KNP. Significant relationship of AA and AB genotype between MC4R polymorphic site and breeding value for average daily gain (ADG, p<0.05) was observed. PRKAG3 polymorphic sites were also found to be significantly related to breeding values for ADG, AA, AB genotype (p<0.05) and also, for Backfat thickness (BF), days to 70 kg and BB genotype (p<0.05). In conclusion, selection method would be more effective if it encompasses significant genotype for performance traits and that would further aid in the selection of seed stock in KNP.

Grain weight is the most important target not only as a major component of grain yield, but also of the cooking qualities in rice breeding program. In a previous study, a high-resolution physical map targeting a cluster of yield-related QTLs for grain weight, spikelets per panicle has been constructed using series of BC3F4 nearly isogenic lines (NILs) derived from a cross between the Korean japonica cultivar Hwaseong and O. rufipogon. The QTLs including grain weight trait have been mapped in a 25.5kb region containing three genes. Based on GenBank database, these genes include male sterility 5 (OsMs5, LOC_Os09g36740), similar ascorbate peroxidase (OsApx, LOC_Os09g36750) and glutelin family protein (OsGlu, LOC_Os09g36760). Their endogenous expression patterns were analyzed in various rice tissues (2-week seedling, flag leaf, root and panicle) from the parental lines, Hwaseong and NIL-gw9. Semi-quantitative RT-PCR and qRT-PCR were performed using gene specific primer sets. The cDNAs of the similar OsApx gene of Hwaweong and NIL-gw9 were cloned. Over-expression and RNAi knock-down transgenic plants using three genes are under construction for the functional characterization of the genes. The results will be discussed.

Rice mesocotyl is the region between the coleoptile node and point of union of the culm with the root. The mesocotyl is one of the important factor contributing to rice seedling emergence from soil in direct seedling. Several quantitative trait loci (QTLs) for mesocotyl elongation of rice had been reported in few studies. However, association mapping of mesocotyl elongation QTL was not conducted. For that reason, we detected QTLs for mesocotyl elongation in agar and soil conditions and confirmed the potentials of QTLs using chromosome substitution lines (CSSLs). Backcross inbred line (BILs) and chromosome segment substitution lines (CSSLs) derived from a cross between Kasalath and Nipponbare were employed to detect QTLs for mesocotyl elongation in rice. A total of 12 QTLs for mesocotyl elongation were detected on chromosome 1, 3, 6, 7, 9 and 12 using 98 BILs in agar and soil conditions. Two QTLs, qMel-1 and qMel-3 were consistently detected in both conditions. For substitution mapping of qMel-1 and qMel-3, across was made between 2 CSSLs, CSSL-6 and CSSL-15. Our results showed that the qMel-1 was located between two markers RM5448 and RM5310 on chromosome1 and the qMel-3 was located between RM15859-RM15974 on chromosome3. To understand factors controlling mesocotyl elongation, cell expansion and division of rice mesocotyl were investigated. Moreover, microarray analysis was conducted to select candidate genes using near-isogenic lines for two QTLs. 194 genes were up- and down regulated in rice mesocotyl.

To obtain a better insight into a possible common regulatory mechanism shared in response to heat and cold stresses in model monocot plant, expression profiling for several selected transcripts of rice (O. sativa L.) was examined from meiotic stage panicle samples of a number of different cultivars including both heat/cold tolerant and susceptible varieties. Induction of several of these genes in response to heat stress treatment was observed across all different rice varieties tested, but no differential induction kinetics between the heat-tolerant and susceptible varieties was discernable for these genes. On the other hand, a few genes that are known to be involved in ROS signaling showed different induction kinetics between the tolerant and susceptible varieties, suggesting that these genes might be playing a key role in conferring the heat/cold stress tolerance at reproductive stage of tolerant rice varieties. This approach was also augmented by comparative gene expression data analyses, utilizing expression data of other monocots and dicots model plants available in the database. Based upon these results, a preliminary gene pyramiding effort to estimate contributing factor of several selected alleles after putting these genes together is underway. This work was supported by a grant from the Next-Generation BioGreen 21 Program (Plant Molecular Breeding Center No.PJ009076), Rural Development Administration, Republic of Korea.

Cold stress at the seedling stage is a major threat to rice production. Cold tolerance is controlled by complex genetic factors. We used an F7 recombinant inbred line (RIL) population of 123 individuals derived from the cross of a cold-tolerant japonica and a cold-sensitive indica cultivars, for QTL mapping. Phenotypic evaluation of the parents and RILs in an 18/8oC (day/night) cold-stress regime showed continuous variations for cold tolerance or sensitivity. Six QTLs for seedling cold tolerance were identified on chromosomes 1, 2, 4, 10, and 11 with percent phenotypic variation (R2) ranging from 6.1% to 16.5%. Three main-effect QTLs (qSCT1, qSCT4, and qSCT11) were detected in all cold-tolerant RILs which explained high sum of phenotypic variation (SPV) ranging from 27.1% to 50.6%. Two QTLs (qSCT1 and qSCT11) on chromosomes 1 and 11 were fine mapped. The marker In1-c3 from ORF LOC_Os01g69910 of the BAC clone B1455F06 encoding calmodulin-binding transcription activator (CAMTA) and another marker, In11-d1 from ORF LOC_Os11g37720 (Duf6 gene) of the BAC clone OSJNBa0029K08, co-segregated with seedling cold tolerance. These two InDel markers amplified 241-bp and 158-bp alleles, respectively, in cold-tolerant RILs, and in the cold-tolerant donor Jinbu, which were absent in cold-sensitive parent BR29 and cold-sensitive RILs.