• Journal of Genetic Medicine
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• v.20 no.1
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• pp.15-24
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• 2023

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

• Asian-Australasian Journal of Animal Sciences
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• v.25 no.12
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• pp.1667-1673
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• 2012

The objective of this study was to estimate economic weights of Hanwoo carcass traits that can be used to build economic selection indexes for selection of seedstocks. Data from carcass measures for determining beef yield and quality grades were collected and provided by the Korean Institute for Animal Products Quality Evaluation (KAPE). Out of 1,556,971 records, 476,430 records collected from 13 abattoirs from 2008 to 2010 after deletion of outlying observations were used to estimate relative economic weights of bid price per kg carcass weight on cold carcass weight (CW), eye muscle area (EMA), backfat thickness (BF) and marbling score (MS) and the phenotypic relationships among component traits. Price of carcass tended to increase linearly as yield grades or quality grades, in marginal or in combination, increased. Partial regression coefficients for MS, EMA, BF, and for CW in original scales were +948.5 won/score, +27.3 $won/cm^2$, -95.2 won/mm and +7.3 won/kg when all three sex categories were taken into account. Among four grade determining traits, relative economic weight of MS was the greatest. Variations in partial regression coefficients by sex categories were great but the trends in relative weights for each carcass measures were similar. Relative economic weights of four traits in integer values when standardized measures were fit into covariance model were +4:+1:-1:+1 for MS:EMA:BF:CW. Further research is required to account for the cost of production per unit carcass weight or per unit production under different economic situations.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.3
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• pp.322-329
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• 2011

A whole genome association (WGA) study was conducted to identify quantitative trait loci (QTL) for body conformation traits in Hanwoo cattle. The phenotypes of 497 steers were recorded from the Hanwoo Improvement Center of National Agricultural Cooperative Federation, Seosan, Korea, and analyzed using the Illumina Bovine 50 k SNP chip. A set of 35,987 SNPs that were available in the Hanwoo population was selected from the chip. After adjustments for the effects of year-season of birth, region and sire, phenotypes were regressed on each SNP using a linear regression model. Three hundred nineteen SNPs were detected for the ten conformation traits (p<0.003). For the significant SNPs, stepwise regression procedures were applied to determine best sets of markers. A total of 72 SNPs were selected (p<0.001), for which the sets of 5, 9, 10, 9, 8, 11, 4, 6, 3 and 7 SNPs were determined for height at withers, rump height, body length, chest depth, chest width, rump length, hip width, thurl width, pinbone width and heart girth, respectively. About 7-26% of the total phenotypic variation was explained by the set of SNPs for each trait. QTL for the conformation traits were harbored on most bovine chromosomes (BTAs). Four SNPs with pleiotropic effects on height at withers and rump height were detected on BTAs 3, 4, 6 and 16. A SNP with pleiotropic effects on chest width and rump length was also detected on BTA10. Two QTL regions, i.e. between 87 and 97 Mb in BTA3 and between 41 and 44 Mb in BTA7, were found, in which SNPs were detected for the five and three conformation traits, respectively. The detected SNPs need to be validated in other Hanwoo populations for commercial application to the genetic improvement of conformation characteristics in Hanwoo via marker-assisted selection (MAS).

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.10
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• pp.1565-1574
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• 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.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.32 no.4
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• pp.404-408
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• 1999

To analyze the possibility for the genetic improvement at the early period at 60 days of age in tilapia, Oreochromis niloticus. Genetic parameters on eight traits, total length (TL), standrad length (SL), head length (HL), body depth (BD), body height at the origin of dorsal fin (BH1), length from the origin of dorsal fin to the origin of dorsal fin (BH2), snout length (SNL), and body weight (BW), were estimated by sib analysis. Heritabilities estimated from sire, dam and full-sib components were moderately high in all metric traits, ranged 0.08$\~$0.70, 0.22$\~$0.41 and 0.18$\~$0.55, respectively. Those of SL from sire, dam, and full-sib component were estimated as 0.13, 0.22, and 0.18, respectively, Besides BH1, BH2 also showed high heritabilities, $h^2_s$ (0.08), $h^2_d$ (0.38) and $h^2_{s+d}$ (0.23), indicating that it would be a new production-related metric trait for selection. Among the metric traits, phenotypic and genetic correlation coefficients were ranged from 0,86 to 0.97 and from 0.90 to 0.99, respectively. Thus, genetic improvement would be possible at the early growth rate by the individual selection in tilapia.

• Korean Journal of Breeding Science
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• v.40 no.4
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• pp.414-421
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• 2008

We conducted a QTL analysis of agronomic traits using 117 $BC_3F_5$ and $BC_3F_6$ lines developed from a cross between Ilpumbyeo and Moroberekan. Genotypes of 117 $BC_3F_5$ lines were determined using 134 simple sequence repeat (SSR) markers. A total of 832 Moroberekan chromosome segments with 410 homozygous and 422 heterozygous, respectively, were detected, and the genetic distance of introgression segments ranged from 0.5 cm to 112.1 cm. A linkage map constructed using 134 SSR markers was employed to characterize quantitative trait loci (QTL). The 117 $BC_3F_5$ and $BC_3F_6$ lines were evaluated for seven agronomic traits at two locations in 2006 and 2007 and at one location in 2007. A total of 26 QTLs were identified for seven traits including days to heading, and the phenotypic variance explained by each QTL ranged from 9.2% to 24.2%. Moroberekan alleles contributed positive effects in the Ilpumbyeo background at eleven QTL loci including panicle length and spikelets per panicle. Five QTLs, two for days to heading and one each for culm length, panicle length and spikelets per panicle were consistently detected in every occasions indicating that these QTLs are stable. Among them, two QTLs, spp6 for spikelets per panicle and pl6 for paniclel length were localized in the similar region. Increase in spikelets per panicle at this locus might be due to the increase in panicle length, because both traits were associated with increase in spikelets per panicle and panicle length due to the presence of the Moroberekan allele. These Moroberekan QTLs might be useful in breeding programs to develop high-yielding cultivars.

• Animal Bioscience
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• v.36 no.7
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• pp.991-1002
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• 2023

Objective: This study aimed to elucidate the underlying gene regions responsible for productive, phenotypic or adaptive traits in different ecological types of Tibetan sheep and the discovery of important genes encoding valuable traits. Methods: We used whole-genome resequencing to explore the genetic relationships, phylogenetic tree, and population genetic structure analysis. In addition, we identified 28 representative Tibetan sheep single-nucleotide polymorphisms (SNPs) and genomic selective sweep regions with different traits in Tibetan sheep by fixation index (Fst) and the nucleotide diversity (θπ) ratio. Results: The genetic relationships analysis showed that each breed partitioned into its own clades and had close genetic relationships. We also identified many potential breed-specific selective sweep regions, including genes associated with hypoxic adaptability (MTOR, TRHDE, PDK1, PTPN9, TMTC2, SOX9, EPAS1, PDGFD, SOCS3, TGFBR3), coat color (MITF, MC1R, ERCC2, TCF25, ITCH, TYR, RALY, KIT), wool traits (COL4A2, ERC2, NOTCH2, ROCK1, FGF5, SOX9), and horn phenotypes (RXFP2). In particular, a horn-related gene, RXFP2, showed the four most significantly associated SNP loci (g. 29481646 A>G, g. 29469024 T>C, g. 29462010 C>T, g. 29461968 C>T) and haplotypes. Conclusion: This finding demonstrates the potential for genetic markers in future molecular breeding programs to improve selection for horn phenotypes. The results will facilitate the understanding of the genetic basis of production and adaptive unique traits in Chinese indigenous Tibetan sheep taxa and offer a reference for the molecular breeding of Tibetan sheep.

• Journal of Animal Science and Technology
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• v.54 no.2
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• pp.89-94
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• 2012

The objective of this study was to estimate the genetic parameters and breeding value of swine using their economic traits. The traits considered were age at 90 kilograms body weight (D90 kg), backfat thickness (BF) and eye muscle area (EMA). Estimation of genetic parameters and breeding value from 18,668 heads considering the economic traits were based on farm performance data from May 2007 to April 2011. Estimation of genetic parameters based on economic traits revealed that the single best model was fitted after finding source of variance on fixed and random effects and estimated by a multiple trait model using DF-REML (Derivative-FREE Restricted Maximum Likelihood). In this study, the estimated heritabilities of Duroc, Berkshire, Landrace and Yorkshire were about 0.22-0.59 for the D90 kg, 0.47-0.62 for the BF and 0.23-0.37 for the EMA. Genetic correlation of D90 kg with BF and EMA of the four breeds were -0.01-0.24 and -0.35--0.23, respectively. Moreover, the genetic correlation of BF with EMA was -0.68--0.17. On the other hand, the phenotypic correlation of D90 kg with BF and EMA of the four breeds were about 0.01-0.11 and -0.37--0.21, respectively, while the phenotypic correlation of BF with EMA was -0.68--0.17. Results showed that the genetic trends of breeding value every year were decreasing for D90 kg, increasing for BF while for EMA inconsistent values were obtained.

• Journal of Animal Science and Technology
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• v.54 no.2
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• pp.83-87
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• 2012

The purpose of this study was to estimate genetic parameters for productive traits in swine. Productive traits were considered on average daily gain (ADG), body height (BH) and body length (BL). Genetic analysis was consisted of 18,668 heads for productive traits which were based on on-farm performance tested from May, 2007 to Apr, 2011. For estimating genetic parameters on productive traits, single best model was fitted after finding source of variance on fixed and random effects and estimated with a multiple trait animal model by using DF-REML (Derivative-Free Restricted Maximum Likelihood). The estimated heritabilities of Duroc, Berkshire, Landrace and Yorkshire 0.22-0.58 for the average daily gain, 0.34-0.41 for the body height and 0.4-0.52 for the body length, respectively. Phenotypic correlations of average daily gain with body height and body length for the four breeds were 0.42-0.48, 0.53-0.58, 0.34-0.46 and 0.47-0.56, respectively. Phenotypic correlations of body height with body length were 0.41, 0.57, 0.52, 0.59, respectively. The estimated genetic correlation coefficients of average daily gain with body height and body length estimated for the four breeds were 0.34-0.47, 0.70-0.75, 0.17-0.38 and 0.50-0.53, respectively. The estimated genetic correlation coefficients of body height with body length were 0.57, 0.69, 0.61 and 0.71, respectively.

• The Korean Journal of Malacology
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• v.24 no.2
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• pp.121-130
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• 2008

In other aquaculture species, large improvements in growth have been achieved through selective breeding. Ezo abalone(Haliotis discus hannai) and disk abalone(H. discus discus) are major aquatic animals cultured in Asia, but selective breeding for the promotion of growth with these abalones has not been actively pursued. Recently significant efforts are being made to promote production of these species through selective breeding in Korea. The aims of this work were to estimate the general genetic parameters, heritabilities, and genetic and phenotypic correlations on growth-related traits at 1-year old in two Korean abalone subspecies, H. discus hannai and H. discus discus, by using multiple trait animal model. The data were collected from the records of 1,504 individuals produced from 22 sires and 26 dams in H. discus hannai and 297 individuals produced from 5 sires and 6 dams in H. discus discus, which evaluated by the Genetics and Breeding Research Center, National Fisheries Research & Development Institute(NFRDI). Genetic parameters were estimated for these abalone subspecies raised in Bukjeju branch, NFRDI, from May 20, 2004 to May 16, 2005, respectively. The heritability estimates obtained from restricted maximum likelihood(REML) were higher than expected, ranging from 0.40 to 0.43 for growth traits shell length, shell width and body weight in H. discus hannai and from 0.26 to 0.51 in H. discus discus, respectively. The heritabilities for shell shape and condition factor were lower than others of growth traits such as ranging from 0.09 to 0.19 in H. discus hannai and from 0.10 to 0.23 in H. discus discus, respectively. Genetic and phenotypic were > 0.93 between shell parameters and weight in two abalone species, respectively, indicating that breeding for weight gains could be successfully achieved by selecting for shell length.