• Title/Summary/Keyword: SNP (single nucleotide polymorphisms)

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Association between Polymorphisms of Lipoprotein Lipase Gene and Chicken Fat Deposition

  • Liu, Rui;Wang, Yachun;Sun, Dongxiao;Yu, Ying;Zhang, Yuan
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.10
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    • pp.1409-1414
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    • 2006
  • The objective of this study was to screen single nucleotide polymorphisms (SNPs) of the chicken lipoprotein lipase gene (LPL), using 545 F1 hybrids developed from $4{\times}4$ diallel crossing of four chicken breeds, and to analyze the associations between polymorphisms of the LPL and chicken fat deposition traits. PCR-SSCP was used to detect SNPs in LPL. Fifteen sets of primers were designed to amplify DNA fragments covering the 5'flanking and coding regions of LPL. It showed that there existed 5 polymorphic loci in the 5'flanking region and coding region, respectively. Association analysis was carried out between 10 polymorphic loci and intermuscular fat width, abdominal fat weight, and thickness of subcutaneous fat using ANCOVA, respectively. The results indicated that, in the 5'flanking region, the loci d and e significantly affected thickness of subcutaneous fat (p<0.05), abdominal fat weight (p<0.01) and subcutaneous fat (p<0.05), while in the coding region, synonymous mutation in exon 8 was significantly associated with intermuscular fat width (p<0.05), however, the non-synonymous mutations in exon 7 and exon 9 did not show statistically significant effects on fat deposition traits in this study.

Mapping of the Porcine Calpastatin Gene and Association Study of Its Variance with Economic Traits in Pigs

  • Choi, B.H.;Lee, J.S.;Jang, G.W.;Lee, H.Y.;Lee, J.W.;Lee, K.T.;Chung, H.Y.;Park, H.S.;Oh, S.J.;Sun, S.S.;Myung, K.H.;Cheong, I.C.;Kim, T.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.8
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    • pp.1085-1089
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    • 2006
  • The objectives of this study were to confirm a location of the calpastatin (CAST) gene in chromosome 2 and to detect associations of genetic variations with economic traits in the porcine CAST gene as a candidate gene for growth and meat quality traits in pigs. Calpastatin is a specific endogenous inhibitor of calpains. The calpain protease system is ubiquitous, and is involved in numerous growth and metabolic processes. Three single nucleotide variations were identified within a 1.6 kb fragment of the porcine CAST gene and these polymorphisms were used for genetic linkage mapping. Linkage and QTL mapping were performed with the National Livestock Research Institute (NLRI) reference families using eight microsatellites and SNP makers in the CAST gene. The porcine CAST gene was mapped adjacent to the markers, SW395 and SW1695 on SSC2 with LOD scores of 15.32 and 8.50, respectively. According to the QTL mapping, a significant association was detected at 82 cM between SW395 and CAST-Hinf I for weight at the age of 30 weeks. In addition, an association study was performed with the $F_2$ animals of NLRI reference families for Hinf I, Msp I and Rsa I polymorphisms in the CAST gene. Two polymorphisms, CAST-Rsa I and CAST-Hinf I, showed significant correlation for growth traits at p<0.01 and p<0.05, respectively.

ITS Sequence Variations in Populations of Ilex cornuta (Aquifoliaceae) (호랑가시나무(Ilex cornuta) 개체군의 ITS 염기서열 변이 분석)

  • Son, Sung-won;Kim, Joo-Hwan;Kim, Yong-Shik;Park, Seon-Joo
    • Korean Journal of Plant Taxonomy
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    • v.37 no.2
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    • pp.131-141
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    • 2007
  • Genetic variation of Ilex cornuta Lindley et Paxton was examined by sequence analyses of ITS for 65 individuals from Korea and China. The length of ITS 1 ranged from 253 to 259 bp. The 5.8S was 159 bp and ITS2 was observed to be 231 bp. A total of 8 different ITS types (Single Nucleotide Polymorphism haplotypes), which showed the difference of 1 - 6 bp, were detected from 65 individuals. The sequence polymorphisms of ITS appeared at 9 different sites. All of four individuals collected at Daejeong-eup in Jeju-do exhibited different types, but all individuals from Naju-si and Muan-gun in Jeollanam-do were identical. The variation of ITS was higher in Jeju-do population than in inland population. Since I. cornuta contains various types of ITS sequences, ITS analyses will provide important information on genetic diversity and conservation of this species.

Genetic Polymorph isms and Haplotype Analysis of Sweet Taste Receptor TAS1R2 Gene in the Korean Population (한국인의 단맛수용체유전자 TAS1R2 다형성분석 및 일배체형 연구)

  • Lee, Hye-Jin;Bae, Jae-Woong;Kwon, Tae-Jun;SaGong, Bo-Rum;Kim, Un-Kyung
    • Journal of Life Science
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    • v.20 no.3
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    • pp.462-465
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    • 2010
  • Sweetness plays an important role in providing calories and promoting appetite for food. Since it has been known that genetic factor(s) is involved in individual differences in taste sensitivity in humans, this study aimed to examine genetic variations of the TAS1R2 gene, one of the components for tasting sweet compounds, by using DNA sequencing analysis from 98 unrelated Korean subjects. As a result, 12 different single nucleotide polymorphisms (SNPs) were identified in the hTAS1R2 gene and most of them were nonsynonymous. Also, two novel SNPs were found for the first time in this study. It was noted that the frequencies of these SNPs were common in the Korean population. 20 different haplotypes with coding SNPs (cSNPs) were also found in this study. Three out of these haplotypes were common, showing frequencies of > 10%. The repertoire and frequencies of cSNPs and haplotypes in the hTAS1R2 gene will provide information that will help identify a functional ligand receptor common in the Korean population.

Position of Hungarian Merino among other Merinos, within-breed genetic similarity network and markers associated with daily weight gain

  • Attila, Zsolnai;Istvan, Egerszegi;Laszlo, Rozsa;David, Mezoszentgyorgyi;Istvan, Anton
    • Animal Bioscience
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    • v.36 no.1
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    • pp.10-18
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    • 2023
  • Objective: In this study, we aimed to position the Hungarian Merino among other Merinoderived sheep breeds, explore the characteristics of our sampled animals' genetic similarity network within the breed, and highlight single nucleotide polymorphisms (SNPs) associated with daily weight-gain. Methods: Hungarian Merino (n = 138) was genotyped on Ovine SNP50 Bead Chip (Illumina, San Diego, CA, USA) and positioned among 30 Merino and Merino-derived breeds (n = 555). Population characteristics were obtained via PLINK, SVS, Admixture, and Treemix software, within-breed network was analysed with python networkx 2.3 library. Daily weight gain of Hungarian Merino was standardised to 60 days and was collected from the database of the Association of Hungarian Sheep and Goat Breeders. For the identification of loci associated with daily weight gain, a multi-locus mixed-model was used. Results: Supporting the breed's written history, the closest breeds to Hungarian Merino were Estremadura and Rambouillet (pairwise FST values are 0.035 and 0.036, respectively). Among Hungarian Merino, a highly centralised connectedness has been revealed by network analysis of pairwise values of identity-by-state, where the animal in the central node had a betweenness centrality value equal to 0.936. Probing of daily weight gain against the SNP data of Hungarian Merinos revealed five associated loci. Two of them, OAR8_17854216.1 and s42441.1 on chromosome 8 and 9 (-log10P>22, false discovery rate<5.5e-20) and one locus on chromosome 20, s28948.1 (-log10P = 13.46, false discovery rate = 4.1e-11), were close to the markers reported in other breeds concerning daily weight gain, six-month weight, and post-weaning gain. Conclusion: The position of Hungarian Merino among other Merino breeds has been determined. We have described the similarity network of the individuals to be applied in breeding practices and highlighted several markers useful for elevating the daily weight gain of Hungarian Merino.

Screening for candidate genes related with histological microstructure, meat quality and carcass characteristic in pig based on RNA-seq data

  • Ropka-Molik, Katarzyna;Bereta, Anna;Zukowski, Kacper;Tyra, Miroslaw;Piorkowska, Katarzyna;Zak, Grzegorz;Oczkowicz, Maria
    • 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.

Utility of Selected Non-coding Chloroplast DNA Sequences for Lineage Assessment of Musa Interspecific Hybrids

  • Swangpol, Sasivimon;Volkaert, Hugo;Sotto, Rachel C.;Seelanan, Tosak
    • BMB Reports
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    • v.40 no.4
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    • pp.577-587
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    • 2007
  • Single-copy chloroplast loci are used widely to infer phylogenetic relationship at different taxonomic levels among various groups of plants. To test the utility of chloroplast loci and to provide additional data applicable to hybrid evolution in Musa, we sequenced two introns, rpl16 and ndhA, and two intergenic spacers, psaA-ycf3 and petA-psbJ-psbL-psbF and combined these data. Using these four regions, Musa acuminata Cola(A)- and M. balbisiana Colla (B)-containing genomes were clearly distinguished. Some triploid interspecific hybrids contain A-type chloroplasts (the AAB/ABB) while others contain B-type chloroplasts (the BBA/BBB). The chloroplasts of all cultivars in 'Namwa' (BBA) group came from the same wild maternal origin, but the specific parents are still unrevealed. Though, average sequence divergences in each region were little (less than 2%), we propose that petA-psbJ intergenic spacer could be developed for diversity assessment within each genome. This segment contains three single nucleotide polymorphisms (SNPs) and two indels which could distinguish diversity within A genome whereas this same region also contains one SNP and an indel which could categorize B genome. However, an inverted repeat region which could form hairpin structure was detected in this spacer and thus was omitted from the analyses due to their incongruence to other regions. Until thoroughly identified in other members of Musaceae and Zingiberales clade, utility of this inverted repeat as phylogenetic marker in these taxa are cautioned.

Composite genotypes of progestogen-associated endometrial protein gene and their association with composition and quality of dairy cattle milk

  • Kolenda, Magdalena;Sitkowska, Beata;Kamola, Dariusz;Lambert, Barry D.
    • Animal Bioscience
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    • v.34 no.8
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    • pp.1283-1289
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    • 2021
  • Objective: The progestogen-associated endometrial protein (PAEP) gene encodes the main whey protein in milk, β-lactoglobulin. The aim of the study was to investigate polymorphism in the PAEP gene and its association with milk yield, composition, and quality. Methods: Test-day records for 782 dairy cows were analysed. A total of 10 single nucleotide polymorphisms (SNP) within the PAEP gene were investigated. The following parameters were recorded: milk yield (MY, kg/d), percent milk fat (%), protein (PP, %), dry matter (DMP, %) and lactose (LP, %), urea content (UC, mg/L) as well as natural logarithm for somatic cell count (LnSCC, ln). Effect on genomic estimated breeding values accuracy was evaluated with pedigree and single step model. Results: Results show that only three SNPs were polymorphic, creating 5 composite genotypes: P1 to P5. Differences in MY between composite genotypes were noted in the two tested herds. Cows with P5 composite genotypes were characterised by the highest PP and LnSCC and the lowest LP and UC (p<0.05). P4 was linked to an increased DMP and UC, while P3 to an increase in LP and decrease in PP and LnSCC. Both factors are important markers in herd management and have high influences on the herds economics. For 5 out of 7 traits the accuracy of prediction was improved by including the haplotype as a fixed effect. Conclusion: Presented results may suggest a new way to optimise breeding programmes and demonstrate the impact of using genomic data during that process.

Effects of c.494A>C and c.267T>G SNPs in OCX-32 Gene of Korean Native Chicken on Egg Production Traits (OCX-32 유전자 내 c.494A>C 및 c.267T>G SNP이 한국 재래닭 산란형질에 미치는 효과 분석)

  • Lee, Ji-Yeon;Choi, So-Young;Kim, Chong-Dae;Hong, Yeong Ho;Jeong, Dong Kee;Lee, Sung-Jin
    • Korean Journal of Poultry Science
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    • v.41 no.3
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    • pp.191-196
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    • 2014
  • The identification and utilization of potential candidate genes with significant effects on economically important traits have become increasingly important in poultry breeding programs. The ovocalyxin-32 (OCX-32) gene is located chromosome 9 in chicken, plays an important role in eggshell formation. This study was performed to assess the association between single nucleotide polymorphisms (SNPs) of OCX-32 gene and egg production traits in the Korean native chicken. Four Korean native chicken population (n = 181; including 46 females of Ogol, 46 females of white, 43 females of gray and 46 females of black) were used to analyze two SNPs (c.494A>C and c.267T>G) in the OCX-32 gene by PCR-RFLP (Polymerase Chain Reaction-Restricted Fragment Length Polymorphism). We measured egg production traits of age at first egg, first egg weight, egg production ratio and egg weight. The SNP c.494A>C was significantly associated with egg production ratio in Korean Ogol chickens (p<0.001) and egg weight in Korean white chickens (p<0.05). SNP c.267T>C was significantly associated with egg weight in Korean Ogol chickens (p<0.05). But there was no significant association in Korean gray and black chickens. Results suggest the possibility of using molecular markers in OCX-32 gene as a tool for performance and egg production traits in Korean native chicken breeding program.

Investigation and Analysis of Allergy-related SNPs for Allergy Affected Students in a high school. (과학영재학교 학생들이 알러지 관련 SNP 탐색고 분석)

  • 김경원;이호경;김현근;김수영;안정훈
    • Journal of Life Science
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    • v.14 no.5
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    • pp.847-854
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    • 2004
  • Allergy is a multi-factorial disease influenced by genetic and environmental factors. As the number of allergy-affected people is increasing in developed countries, there is an increasing interest in genetic predisposition to the allergy. A number of genes and chromosomal region have been identified to be linked to allergy including rhinitis, asthma and atopy. In order to understand the genetic background for the allergy-affected people, we investigated genetic predisposition among students enrolled in Busan Science Academy. Among 138 students, about 30% students had some allergy-related disorder including rhinitis, asthma and atopy. We analyzed several single nucleotide polymorphisms (SNPs) within two genes, Inter-leukin-4(IL-4) and Interleukin-4 receptor(IL-4R), which are involved in the induction of allergy reaction with the Th2 immunity. For 96 samples obtained from students, we analyzed 9 SNPs including -590 C/T and -34 C/T in IL-4, and I75V, Q576R, E375A, e406R, 5411L, S761P and S727A in IL-4R. From the analysis, these SNPs showed slight differences among normal and allergy-affected students, but these differences was not enough to predict the predisposition to the allergy. In contrast to previous reports, we could not find SNP(s) related with allergy. These results suggest that genetic tests recently performed in Korea widely have to be reassessed for its validity of genetic predisposition. [Supported by grants from MOST]