• 한국가축번식학회지
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• 제25권4호
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• pp.295-304
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• 2001

양적형질 유전자 좌위 (QTL)의 탐색과 이들의 발현 양상 규명을 위해 Berkshire종과 Yorkshire종 간의 교배를 통해 생산된 F$_2$ 실험집단에서 regression interval mapping이 이루어졌다. 모두 525마리의 F$_2$ 자손들에서 일당 증체량, 평균 등지방 두께, 배장근 단면적이 표현형으로 조사되어 분석에 이용되었으며 모돈의 번식능력에 관련된 QTL 존재 여부 추정을 위해 간접 형질로 인정되고 있는 생시체중과 이유 시 체중을 분석에 포함하였다. 양적형질의 분리 여부를 추론하기 위하여 돼지의 2번 염색체에서 8종의 microsatellite 표지인자가 선택되어 유전자형이 조사되었다. 각각의 유전적 모델에서 산출된 통계량으로부터 QTL 존재 여부와 특정 QTL 발현 양상에 대한 여부를 나타낼 수 있는 인정되는 수준의 type I 오차율을 제어할 수 있는 임계값 (threshold)을 permutation test에 의해 제시하였다. QTL의 존재와 그 QTL의 Imprinting 여부는 부계와 모계를 통해 원가계 1세대의 대립유전자가 전달되는 과정에서 발현되는 특성을 분리시키는 통계적 의형을 설정하여 검정 통계량을 산출하였다. 분석에 이용된 3가지 형질과 연관된 3종류의 QTL 존재 가능성을 돼지의 2번 염색체에서 확인하였으며, 이들 중 평균 등지방 두께와 배장근 단면적에 각각 영향을 미칠 것으로 추론된 2종류의 QTL 발현은 정상적인 Mendelian 유전양식을 따르지 않고 imprinting된다는 증거를 얻어냈다. 또한 이들 imprinting되는 QTL은 이미 imprinting 표현 양식을 가진다고 알려진 IGF II 유전자의 위치와 거의 동일한 염색체강의 지점에서 부계로 전달되는 QTL만이 발현되는 특징을 보이는 것으로 밝혀졌다. 한편 Mendelian 모형과 imprinting 모형 모두에서 유의적인 임계값 이상을 보이는 검정 통계량이 산출된 일당 증체량 연관 QTL은 두 모형간의 적정성 분석을 위한 검정을 퐁해 Mendelian 양식을 따른 것으로 최종 확인되었다.

• Asian-Australasian Journal of Animal Sciences
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• 제16권3호
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• pp.320-324
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• 2003

The objective of this study was to localize QTL affecting meat quality in a pig family of three generations. All animals were genotyped for twenty-four microsatellites on SSC3 (Sus scrofa chromosome 3), SSC4 and SSC7. One hundred and forty $F_2$ offsprings were scored for eleven meat quality traits. Least square regression interval mapping revealed quantitative trait loci (QTL) effect for meat pH (m. Semipinalis Capitis, SC) on SSC4 and SSC7; for moisture (m. Longissimus Dorsi, LD) on SSC3. Furthermore, there was suggestive evidence for a QTL on SSC4 affecting intramuscular fat (IMF) content that nearly approached the chromosomewise (p=0.05) significance threshold.

• 생명과학회지
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• 제20권5호
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• pp.789-793
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• 2010

복잡한 진핵생물에서의 물리적 지도 작성이나 기능해석에 효모인공염색체(YAC)를 이용하기 위해서는 원하는 target region의 인공염색체화 및 single-copy인 YAC의 복제수를 늘이는 것이 요구된다. 본 연구에서는 YAC manipulation system에 복제수 증폭시스템(copy number amplification system)을 도입한 Simultaneous YAC Manipulation-Amplification (SYMA) system을 구축하였다. 식물염색체를 가진 YAC clone의 splitting과 증폭을 위해 conditional centromere와 thymidine kinase (TK) 유전자를 가진 pBGTK plasmid를 구축하였고, splitting fragment의 PCR을 위한 주형으로 사용하였다. 590 kb의 YAC clone은 splitting과 동시에 copy number amplification element를 가진 100 kb YAC와 490 kb YAC로 분리되었고, 100 kb YAC는 유도기질로 3 mg/ml sulfanilamide와 $50\;{\mu}g/ml$ methotrexate (S3/M50)의 첨가에 의해 14.4배로 그 복제수가 증가하였음을 확인할 수 있었다.

• Animal Bioscience
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• 제35권9호
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• pp.1289-1302
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• 2022

The next generation sequencing has significantly contributed to clarify the genome structure of many species of zootechnical interest. However, to date, some portions of the genome, especially those linked to a heterogametic nature such as the Y chromosome, are difficult to assemble and many gaps are still present. It is well known that the fluorescence in situ hybridization (FISH) is an excellent tool for identifying genes unequivocably mapped on chromosomes. Therefore, FISH can contribute to the localization of unplaced genome sequences, as well as to correct assembly errors generated by comparative bioinformatics. To this end, it is necessary to have starting points; therefore, in this study, we reviewed the physically mapped genes on the Y chromosome of cattle, buffalo, sheep, goats, pigs, horses and alpacas. A total of 208 loci were currently mapped by FISH. 89 were located in the male-specific region of the Y chromosome (MSY) and 119 were identified in the pseudoautosomal region (PAR). The loci reported in MSY and PAR were respectively: 18 and 25 in Bos taurus, 5 and 7 in Bubalus bubalis, 5 and 24 in Ovis aries, 5 and 19 in Capra hircus, 10 and 16 in Sus scrofa, 46 and 18 in Equus caballus. While in Vicugna pacos only 10 loci are reported in the PAR region. The correct knowledge and assembly of all genome sequences, including those of genes mapped on the Y chromosome, will help to elucidate their biological processes, as well as to discover and exploit potentially epistasis effects useful for selection breeding programs.

• 한국약용작물학회지
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• 제11권5호
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• pp.402-407
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• 2003

개시호 (Bulpleurum longeradiatum)를 대상으로 상염 색법과 FISH기법을 통한 염색체 분석을 통하여 다음과 같은 결과를 얻었다. 개시호의 체세포 염색체 수는 2n=12이었으며, centromeric index를 전중기 염색체를 이용한 핵형 분석에서 염색체 조성은 3쌍의 중부 염색체 (3번, 4번 및 6번)와 3쌍의 차중부 염색체 (1번, 2번 및 5번)로 구분되었다. 염색체의 길이는 $2.55{\sim}5.05\;{\mu}m$로, 전체 길이는 $18.15\;{\mu}m$로 나타났다. 5S 와 45S rDNA를 탐침으로 FISH를 수행한 결과 4번 염색체의 동원체 부위 에서 한 쌍의 5S rDNA signal이 확인되었고, 2번 염색체의 부수체에서 한 쌍의 45S rDNA signal이 관찰되었다.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2017년도 9th Asian Crop Science Association conference
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• pp.144-144
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• 2017

Micronutrients such as zinc (Zn), iron (Fe), manganese (Mn) have important roles for development and growth in plants but it also have roles in animals and humans. In previous studies, a Korean weedy rice, KH2J was selected to have tolerance to heavy metal, lead (Pb) compared with a cultivar, Milyang23. To identify QTLs for micronutrients concentration in grain, an F2 population (120 plants) were developed from a cross between KH2J and an indica rice cultivar, Milyang23. To measure the concentration of eight ions, Zn, Fe, Mn, Pb, calcium (Ca), copper (Cu), cadmium (Cd) and arsenic (As), grains were collected and digested with 65% nitric acid, and the ion contents were measured using inductively coupled plasma mass spectrometry. A total 27 putative quantitative trait loci (QTLs) were detected on 12 chromosomes by single point analysis and 22 putative QTLs were detected by composite interval mapping. The co-locations of QTL for Zn, Fe and Mn were observed on chromosome 5. The QTLs for Cd, Cu and Zn were co-localized on chromosome 10, and QTLs for Zn, As and Mn was on chromosome 12. The Zn concentration in F2 generation showed significant correlation with concentrations of As (r = -0.4), Cu (r = 0.5) and Fe (r = 0.2) (P < 0.01). Also, the Ca concentration was significantly related with Mn and Fe concentrations (P < 0.01). Fine mapping of these QTLs is underway to analyze their functional relationship.

• 대한치과교정학회지
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• 제34권6호
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• pp.537-543
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• 2004

Microsatellite market는 유전연관분석을 위한 매우 유용한 유전표지이다. 그러나 대부분의 market들은 서양인의 정보를 이응하고 있으므로 다른 종족에서 사용할 때는 종족간에 존재할 수 있는 유전 변이의 현저한 차이를 검증해야 한다. 한국인과 일본인 집단에서 종족간 유전 변이를 조사하기 위하여, 각각 96명의 비 혈연관계의 한국인과 일본인 개체들에서 DNA를 채취하였다 그리고 microsatellite set(ABI PRISM Linkage Mapping Set- HDS, Applied Biosystems, Foster City, CA, USA)을 이용하여 1번 인간 염색체 전 부위에 걸쳐 51개의 microsatellite marker들을 배열하고 부착된 marker들의 위치를 분석하여 대립유전자 빈도와 이형질성을 결정하였다 그 결과, 한국인과 서양인 집단 사이에는 현저한 차이를 보였으나 한국인과 일본인 집단 사이에서는 매우 유사하였다. 본 연구의 결과는 유전 연관 연구에 앞서 일반적으로 상용되는 microsatellite marker에 관한 광범위한 검증을 반드시 시행하여야 한다는 것을 나타낸다. 또한 한국인과 일본인 집단 사이에서 유사하게 나타난 대립유전자 빈도와 이 형질성은 두 민족간의 동질성이 높다는 것을 의미하므로 두 민족을 대상으로 한 1번 인간염색체와 관련된 유전 질환의 유전 연관 연구를 시행할 때 동일한 microsatellite marker의 이용 가능성을 제시하였다.

• 한국육종학회지
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• 제40권3호
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• pp.223-227
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• 2008

In rice, tillering is an important trait determining yield. To study tillering at the agricultural and molecular aspects, we have examined a spontaneous rice mutant that showed reduction in the number of culms. The mutant was derived from a $F^6$ line of the cross of Junambyeo*4 / IR72. It could produce, on average, 4 tillers per hill in the paddy field while wild-type plants usually have 15. Except the reduced culm numbers, they also show pale green phenotypes. The phenotypes of this mutant were co-segregated as the monogenic Mendelian ratio (${\chi}^b=0.002$, p=0.969). In order to locate a gene responsible for the rcn phenotype, the mutant with the japonica genetic background was crossed with Milyang21 of the indica background. Bulked segregant analysis was used for rapid determination of chromosomal location. Three SSR markers (RM551, RM8213, and RM16467) on chromosome 4 were genetically associated with the mutant phenotype. Each of the 217 $F_2$ plants was genotyped with simple sequence length polymorphisms. The data showed that RM16572 on chromosome 4 was the closest marker that showed perfect co-segregation among the $F_2$ population. We suggest the new rcn gene studied here name as $rcn10^t$ because there was no report which exhibit a rcn phenotype with a pleiotropic effect of pale green (chlorophyll deficiency), and mapped at same position on chromosome 4.

• Asian-Australasian Journal of Animal Sciences
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• 제28권7호
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• pp.926-935
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• 2015

The efficiency of genome-wide association analysis (GWAS) depends on power of detection for quantitative trait loci (QTL) and precision for QTL mapping. In this study, three different strategies for GWAS were applied to detect QTL for carcass quality traits in the Korean cattle, Hanwoo; a linkage disequilibrium single locus regression method (LDRM), a combined linkage and linkage disequilibrium analysis (LDLA) and a $BayesC{\pi}$ approach. The phenotypes of 486 steers were collected for weaning weight (WWT), yearling weight (YWT), carcass weight (CWT), backfat thickness (BFT), longissimus dorsi muscle area, and marbling score (Marb). Also the genotype data for the steers and their sires were scored with the Illumina bovine 50K single nucleotide polymorphism (SNP) chips. For the two former GWAS methods, threshold values were set at false discovery rate <0.01 on a chromosome-wide level, while a cut-off threshold value was set in the latter model, such that the top five windows, each of which comprised 10 adjacent SNPs, were chosen with significant variation for the phenotype. Four major additive QTL from these three methods had high concordance found in 64.1 to 64.9Mb for Bos taurus autosome (BTA) 7 for WWT, 24.3 to 25.4Mb for BTA14 for CWT, 0.5 to 1.5Mb for BTA6 for BFT and 26.3 to 33.4Mb for BTA29 for BFT. Several candidate genes (i.e. glutamate receptor, ionotropic, ampa 1 [GRIA1], family with sequence similarity 110, member B [FAM110B], and thymocyte selection-associated high mobility group box [TOX]) may be identified close to these QTL. Our result suggests that the use of different linkage disequilibrium mapping approaches can provide more reliable chromosome regions to further pinpoint DNA makers or causative genes in these regions.

• Asian-Australasian Journal of Animal Sciences
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• 제20권5호
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• pp.615-621
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• 2007

AMP-activated protein kinase alpha 2 (PRKAA2) plays a key role in regulation of fatty acid and cholesterol metabolism. This study investigated the porcine PRKAA2 gene as a positional candidate for intramuscular fat and backfat thickness traits in pig chromosome 6. A partial fragment of the porcine PRKAA2 gene, amplified by PCR, contained a putative intron 3 including a part of exon 3 and 4, comparable with that of human PRKAA2 gene. Within the fragment, several single nucleotide polymorphisms were identified using multiple sequence alignments. Of these, TaqI restriction enzyme polymorphism was used for genotyping various pig breeds including Korean reference family. Using linkage and physical mapping, the porcine PRKAA2 gene was mapped in the region between microsatellite markers SW1881 and SW1680 on chromosome 6. Allele frequencies were quite different among pig breeds. The full length cDNA of the porcine PRKAA2 (2,145 bp) obtained by RACE containing 1,656 bp open reading frame of deduced 552 amino acids, had sequence identities with PRKAA2 of human (98.2%), rat (97.8%), and mouse (97.5%). These results suggested that the porcine PRKAA2 is a positional candidate gene for fat deposition trait at near telomeric region of the long arm of SSC 6.