• 한국수정란이식학회지
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• 제20권3호
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• pp.217-232
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• 2005

The objective of this study was to determine the response of QTL in each generation during selection to develop inbred lines. The simulation program was written in Fortran. Magnitude of QTL effects, base population size, number of QTL assigned to population, and the allelic frequency for the positive allele at each major QTL were highly associated with number of generations to fixation of QTLs during selection. Populations with larger QTL effects and larger base population size had more individuals with fixed QTL. However, a smaller number of QTL assigned to population had a higher fraction of individuals with fixed QTL at each generation compared with more populations with QTL. This simulation study will help to design biological experiments for detection of QTL-marker association using inbred population and to determine optimum number of lines with fixed QTL during inbred line development. To complement this study, additional simulation should be need with abundant replicates, more various population sizes, magnitude of QTL effects, and recombination between markers and QTLs.

• 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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• 제26권11호
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• pp.1536-1544
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• 2013

A least squares regression interval mapping model was derived to detect quantitative trait loci (QTL) with a unique mode of genomic imprinting, polar overdominance (POD), under a breed cross design model in outbred mammals. Tests to differentiate POD QTL from Mendelian, paternal or maternal expression QTL were also developed. To evaluate the power of the POD models and to determine the ability to differentiate POD from non-POD QTL, phenotypic data, marker data and a biallelic QTL were simulated on 512 F2 offspring. When tests for Mendelian versus parent-of-origin expression were performed, most POD QTL were classified as partially imprinted QTL. The application of the series of POD tests showed that more than 90% and 80% of medium and small POD QTL were declared as POD type. However, when breed-origin alleles were segregating in the grand parental breeds, the proportion of declared POD QTL decreased, which was more pronounced in a mating design with a small number of parents ($F_0$ and $F_1$). Non-POD QTL, i.e. with Mendelian or parent-of-origin expression (complete imprinting) inheritance, were well classified (>90%) as non-POD QTL, except for QTL with small effects and paternal or maternal expression in the design with a small number of parents, for which spurious POD QTL were declared.

• Asian-Australasian Journal of Animal Sciences
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• 제19권12호
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• pp.1702-1705
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• 2006

A simulation study was conducted to evaluate a fine-mapping method exploiting population-wide linkage disequilibrium. Data were simulated according to the pedigree structure based on a large paternal half-sib family population with a total of 1,034 or 2,068 progeny. Twenty autosomes of 100 cM were generated with 5 cM or 1 cM marker intervals for all founder individuals in the pedigree, and marker alleles and a number of quantitative trait loci (QTL) explaining a total of 70% phenotypic variance were generated and randomly assigned across the whole chromosomes, assuming linkage equilibrium between the markers. The founder chromosomes were then descended through the pedigree to the current offspring generation, including recombinants that were generated by recombination between adjacent markers. Power to detect QTL was high for the QTL with at least moderate size, which was more pronounced with larger sample size and denser marker map. However, sample size contributed much more significantly to power to detect QTL than map density to the precise estimate of QTL position. No QTL was detected on the test chromosomes in which QTL was not assigned, which did not allow detection of false positive QTL. For the multiple QTL that were closely located, the estimates of the QTL positions were biased, except when the QTL were located on the right marker positions. Our fine mapping simulation results indicate that construction of dense maps and large sample size is needed to increase power to detect QTL and mapping precision for QTL position.

• Asian-Australasian Journal of Animal Sciences
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• 제20권5호
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• pp.669-676
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• 2007

This study was conducted to detect quantitative trait loci (QTL) affecting growth and body composition in an $F_2$ reference population of Korean native pig and Landrace crossbreds. The three-generation mapping population was generated with 411 progeny from 38 $F_2$ full-sib families, and 133 genetic markers were used to produce a sex-average map of the 18 autosomes. The data set was analyzed using least squares Mendelian and parent-of-origin interval-mapping models. Lack-of-fit tests between the models were used to characterize QTL for mode of expressions. A total of 8 (39) QTL were detected at the 5% genome (chromosome)-wise level for the 17 analyzed traits. Of the 47 QTL detected, 21 QTL were classified as Mendelian expressed, 13 QTL as paternally expressed, 6 QTL as maternally expressed, and 7 QTL as partially expressed. Of the detected QTL at 5% genome-wise level, two QTL had Mendelian mode of inheritance on SSC6 and SSC9 for backfat thickness and bone weight, respectively, two QTL were maternally expressed for leather weight and front leg weight on SSC6 and SSC12, respectively, one QTL was paternally expressed for birth weight on SSC4, and three QTL were partially expressed for hot carcass weight and rear leg weight on SSC6, and bone weight on SSC13. Many of the Mendelian QTL had a dominant (complete or overdominant) mode of gene action, and only a few of the QTL were primarily additive, which reflects that heterosis for growth is appreciable in a cross between Korean native pig and Landrace. Our results indicate that alternate breed alleles of growth and body composition QTL are segregating between the two breeds, which could be utilized for genetic improvement of growth via marker-assisted selection.

• 한국육종학회지
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• 제42권4호
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• pp.357-364
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• 2010

In a previous study, we mapped 12 QTLs for 1,000 grain weight (TGW) in the 172 $BC_2F_2$ lines derived from a cross between Oryza sativa ssp. Japonica cv. Hwaseongbyeo and O. rufipogon. These QTLs explained 5.4 - 11.4% of the phenotypic variance for TGW. Marker-aided selection combined with backcrosses was employed to develop QTL-NILs for each QTL. $BC_2F_2$ lines with each target QTL were backcrossed to Hwaseongbyeo twice and then allowed to self to produce $BC_4F_5$ populations. SSR markers linked to TGW were employed to select QTL-NILs with the respective target QTL. Six QTL-NILs with the recurrent parent, Hwaseongbyeo were evaluated for nine traits for three years from 2007 and 2009. Differences were observed between each of the 6 QTL-NILs and Hwaseongbyeo in TGW. In addition to TGW, these QTL-NILs displayed differences in other agronomic traits possibly indicating a tight linkage of genes controlling these traits. The direction of the QTL for TGW in 6 QTL-NILs was consistent as in the $BC_2F_2$ lines from the same cross. Difference in TGW between each of the QTL-NILs and Hwaseongbyeo was associated with the difference in one or two grain shape traits; grain length, grain width, and grain thickness. SSR markers linked to the QTL for TGW will facilitate selection of the grain shape character in a breeding program to diversify grain shape and provide the foundation for map-based gene isolation. Also, the QTL-NILs developed in this report and the progenies from crosses between the QTL-NILs will be useful in clarifying epistatic interactions among QTLs for TGW.

• Asian-Australasian Journal of Animal Sciences
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• 제16권4호
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• pp.473-480
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• 2003

In order to control the genetic background noise in QTL mapping, cofactor markers were incorporated in single marker analysis (SMACO) and interval mapping (CIM). A simulation was performed to see how effective the cofactors were by the number of QTL, the number and the type of markers, and the marker spacing. The results of QTL mapping for the simulated data showed that the use of cofactors was slightly effective when detecting a single QTL. On the other hand, a considerable improvement was observed when dealing with more than one QTL. Genetic background noise was efficiently absorbed with linked markers rather than unlinked markers. Furthermore, the efficiency was different in QTL mapping depending on the type of linked markers. Well-chosen markers in both SMACO and CIM made the range of linkage position for a significant QTL narrow and the estimates of QTL effects accurate. Generally, 3 to 5 cofactors offered accurate results. Over-fitting was a problem with many regressor variables when the heritability was small. Various marker spacing from 4 to 20 cM did not change greatly the detection of multiple QTLs, but they were less efficient when the marker spacing exceeded 30 cM. Likelihood ratio increased with a large heritability, and the threshold heritability for QTL detection was between 0.30 and 0.05.

• Asian-Australasian Journal of Animal Sciences
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• 제24권12호
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• pp.1651-1659
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• 2011

This study was conducted to detect quantitative trait loci (QTL) for thirteen growth and meat quality traits in pigs by combing QTL experimental populations. Two F2 reference populations that were sired by Korea native pig (KNP) and dammed by Landrace (LN) or Yorkshire (YK) were generated to construct linkage maps using 123 genetic markers (mostly microsatellites) and to perform QTL analysis on porcine chromosomes (SSCs) 1, 2, 3, 6, 7, 8, 9, 11, 13, 14, and 15. A set of line-cross models was applied to detect QTL, and a series of lack-of-fit tests between the models was used to characterize inheritance mode of QTL. A total of 23, 11 and 19 QTL were detected at 5% chromosome-wise level for the data sets of KNP${\times}$LN, KNP${\times}$YK cross and joint sets of the two cross populations, respectively. With the joint data, two Mendelian expressed QTL for live weight and cooking loss were detected on SSC3 and SSC15 at 1% chromosome-wise level, respectively. Another Mendelian expressed QTL was detected for CIE a on SSC7 at 5% genome-wise level. Our results suggest that QTL analysis by combining data from two QTL populations increase power for QTL detection, which could provide more accurate genetic information in subsequent marker-assisted selection.

• Asian-Australasian Journal of Animal Sciences
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• 제20권12호
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• pp.1805-1811
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• 2007

A simulation study was conducted to evaluate the effect of reciprocal cross on the detection and characterization of parent-of-origin (POE) QTL in $F_2$ QTL populations. Data were simulated under two different mating designs. In the one-way cross design, six $F_0$ grand sires of one breed and 30 $F_0$ grand dams of another breed generated 10 $F_1$ offspring per dam. Sixteen $F_1$ sires and 64 $F_1$ dams were randomly chosen to produce a total of 640 $F_2$ offspring. In the reciprocal design, three $F_0$ grand sires of A breed and 15 $F_0$ grand dams of B breed were mated to generate 10 $F_1$ offspring per dam. Eight $F_1$ sires and 32 $F_1$ dams were randomly chosen to produce 10 $F_2$ offspring per $F_1$ dam, totaling 320 $F_2$ offspring. Another mating set comprised three $F_0$ grand sires of B breed and 15 $F_0$ grand dams of A breed to produce the same number of $F_1$ and $F_2$ offspring. A chromosome of 100 cM was simulated with large, medium or small QTL with fixed or different allele frequencies in parental breeds. A series of tests between Mendelian and POE models were applied to characterize QTL as Mendelian, paternal, maternal or partial expression QTL. The overall detection powers were similar between the two mating designs. However, the proportions of paternally expressed QTL that were declared as paternal QTL type were greater in the reciprocal cross design than in the one-way cross, and vice versa for Mendelian QTL. When QTL alleles were segregating in parental breeds, a significant proportion of Mendelian QTL were spuriously declared POE QTL, suggesting that care must be taken to characterize imprinting QTL in a QTL mapping population with a small number of $F_1$ parents.

• Asian-Australasian Journal of Animal Sciences
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• 제20권11호
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• pp.1625-1630
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• 2007

A simulation study was conducted to evaluate the effect of reciprocal cross on the detection and characterization of Mendelian QTL in $F_2$ QTL swine populations. Data were simulated under two different mating designs. In the one-way cross design, six $F_0$ grand sires of one breed and 30 $F_0$ grand dams of another breed generated 10 $F_1$ offspring per dam. Sixteen $F_1$ sires and 64 $F_1$ dams were randomly chosen to produce a total of 640 $F_2$ offspring. In the reciprocal design, three $F_0$ grand sires of A breed and 15 $F_0$ grand dams of B breed were mated to generate 10 $F_1$ offspring per dam. Eight $F_1$ sires and 32 $F_1$ dams were randomly chosen to produce 10 $F_2$ offspring per $F_1$ dam, for a total of 320 $F_2$ offspring. Another mating set comprised three $F_0$ grand sires of B breed and 15 $F_0$ grand dams of A breed to produce the same number of $F_1$ and $F_2$ offspring. A chromosome of 100 cM was simulated with large, medium or small QTL with fixed, similar, or different allele frequencies in parental breeds. Tests between Mendelian models allowed QTL to be characterized as fixed (LC QTL), or segregating at similar (HS QTL) or different (CB QTL) frequencies in parental breeds. When alternate breed alleles segregated in parental breeds, a greater proportion of QTL were classified as CB QTL and estimates of QTL effects for the CB QTL were more unbiased and precise in the reciprocal cross than in the one-way cross. This result suggests that reciprocal cross design allows better characterization of Mendelian QTL in terms of allele frequencies in parental breeds.