• Asian-Australasian Journal of Animal Sciences
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• 제22권8호
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• pp.1078-1084
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• 2009

The Jindo dog is a Korean natural monument and is recognized by the Fédération Cynologique Internationale. A prominent feature is the diverse coat color within the breed. To analyze the genetic basis of variation in the Jindo coat color, we sequenced the protein-coding regions of the melanocortin 1 receptor gene (MC1R). The MC1R coding sequence was determined from 154 dogs in five breeds (Jindo, Labrador Retriever, English Springer Spaniel, Belgian Malinois, and German Shepherd). To confirm the genetic structure of sampled populations, we tested for Hardy-Weinberg equilibrium (HWE) and computed $F_{st}$ The sample populations did not significantly deviate from HWE. $F_{st}$ was 0.02 between white and fawn Jindo dogs; this was lower than $F_{st}$ between breeds. Six single nucleotide polymorphisms (SNPs) were detected in the MC1R coding region. Among the six SNPs, five were non-synonymous (S90G, T105A, Q159P, M264V, and R306ter) and one was synonymous SNP (Y298Y). From the SNPs, we predicted four haplotypes (H1, H2, H3, and H4) for Jindo MC1R. Jindo dogs had different haplotypes corresponding to different coat colors. H1 was frequently observed in white Jindo dogs with an odds ratio of 5.03 (95% CI: 2.27-11.18, p<0.0001), whereas H2 and H4 were observed only in fawn Jindo dogs. Our findings indicate that SNP haplotype can influence coat color. Knowledge of MC1R haplotypes can help discriminate white and fawn coats in Jindo dogs. We hope this report will trigger more research into the genetics of this traditional Korean dog and will be a reference for dogs of Asian origin. Also, our results will provide a useful genetic marker for Jindo dog breeders who have selected for specific colors.

• Radiation Oncology Journal
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• 제33권2호
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• pp.149-154
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• 2015

Purpose: We performed exome sequencing in a breast cancer family without BRCA mutations. Materials and Methods: A family that three sisters have a history of breast cancer was selected for analysis. There were no family members with breast cancer in the previous generation. Genetic testing for BRCA mutation was negative, even by the multiplex ligation-dependent probe amplification method. Two sisters with breast cancer were selected as affected members, while the mother of the sisters was a non-affected member. Whole exome sequencing was performed on the HiSeq 2000 platform with paired-end reads of 101 bp in the three members. Results: We identified 19,436, 19,468, and 19,345 single-nucleotide polymorphisms (SNPs) in the coding regions. Among them, 8,759, 8,789, and 8,772 were non-synonymous SNPs, respectively. After filtering out 12,843 synonymous variations and 12,105 known variations with indels found in the dbSNP135 or 1000 Genomes Project database, we selected 73 variations in the samples from the affected sisters that did not occur in the sample from the unaffected mother. Using the Sorting Intolerant From Tolerant (SIFT), PolyPhen-2, and MutationTaster algorithms to predict amino acid substitutions, the XCR1, DLL1, TH, ACCS, SPPL3, CCNF, and SRL genes were risky among all three algorithms, while definite candidate genes could not be conclusively determined. Conclusion: Using exome sequencing, we found 7 variants for a breast cancer family without BRCA mutations. Genetic evidence of disease association should be confirmed by future studies.

• Asian Pacific Journal of Cancer Prevention
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• 제13권2호
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• pp.599-606
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• 2012

The characterization of the whole genome of human papillomavirus type 16 (HPV16) from cervical cancer specimens with multiple infections in comparison with single infection samples as the oncogenic potential of the virus may differ. Cervical carcinoma specimens positive for HPV16 by PCR and INNO-LiPA were randomly selected for whole genome characterization. Two HPV16 single infection and six HPV16 multiple infection specimens were subjected to whole genome analysis by using conserved primers and subsequent sequencing. All HPV16 whole genomes from single infection samples clustered in the European (E) lineage while all multiple infection specimens belonged to the non-European lineage. The variations in nucleotide sequences in E6, E7, E2, L1 and Long control region (LCR) were evaluated. In the E6 region, amino acid changes at L83V were related to increased cancer progression. An amino acid variation N29S within the E7 oncoprotein significantly associated with severity of lesion was also discovered. In all three domains of the E2 gene non synonymous mutations were found. The L1 region showed various mutations which may be related to conformation changes of viral epitopes. Some transcription factor binding sites in the LCR region correlated to virulence were shown on GRE/1, TEF-1, YY14 and Oct-1. HPV16 European variant prone to single infection may harbor a major variation at L83V which significantly increases the risk for developing cervical carcinoma. HPV16 non-European variants prone to multiple infections may require many polymorphisms to enhance the risk of cervical cancer development.

• Journal of Plant Biotechnology
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• 제47권3호
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• pp.218-226
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• 2020

유전체 정보가 공공 데이터베이스 내에 빠르게 축적이 되면서 유전체 데이터의 활용도를 높이기 위한 재가공 기술과 공유 기술이 지속적으로 중요해지고 있다. 특히 분자육종을 가속화하기 위해서 다양한 목적에 맞는 분자 마커 개발이 중요하다. 본 연구는 이러한 요구를 해소하기 위해 유전자 단위에서 haplotype을 기본단위로 구분하고 해당 유전자의 haplotype을 대변하는 tag-SNP를 선발하여 분자 마커 등을 개발하는데 사용할 수 있도록 관련 정보를 웹 사이트를 통해서 제공하고자 웹 데이터베이스를 구축하였다. 본 연구를 통해 선발된 각 tag-SNP는 하나의 유전자를 대변할 수 있고, 각 유전자의 haplotype을 구분할 수 있으며, 해당 유전자의 염색체 내 위치 정보, non-synonymous SNP의 정보를 담고 있다. 따라서 기존 무작위 방식으로 선발되어 사용되던 SNP에 비하여 정보력이 높은 tag-SNP를 활용해서 haplotype block을 확장할 수 있을 것이다. Haplotype의 기본 단위를 유전자로 설정함으로써 집단이 바뀜에 따라 발생하는 SNP의 유무, LD block의 크기 등이 변하는 문제점을 극복하고, 표준화된 haplotype library 작성이 가능할 것이며 이는 또한 분자육종을 위한 분자 마커를 선발하는데 활용될 수 있을 것으로 기대된다.

• Asian-Australasian Journal of Animal Sciences
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• 제31권3호
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• pp.309-315
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• 2018

Objective: This study aimed to test the expression patterns of ERBB receptor feedback inhibitor 1 (ERRFI1) before and after exercise and the association of non-synonymous single-nucleotide polymorphisms (nsSNPs) of horse ERRFI1 with racing traits in Thoroughbreds. Methods: We performed bioinformatics and gene expression analyses for horse ERRFI1. Transcription factor (TF) binding sites in the 5'-regulatory region of this gene were identified through a tool for prediction of TF-binding site (PROMO). A general linear model was used to detect the association between the nsSNP (LOC42830758 A to G) and race performance. Results: Quantitative polymerase chain reaction analysis showed that expression level of ERRFI1 after exercise was 1.6 times higher than that before exercise. Ten transcription factors were predicted from the ERRFI1 regulatory region. A novel nsSNP (LOC42830758 A to G) was found in ERRFI1, which was associated with three racing traits including average prize money, average racing index, and 3-year-old starts percentile ranking. Conclusion: Our analysis will be helpful as a basis for studying genes and SNPs that affect race performance in racehorses.

• Asian-Australasian Journal of Animal Sciences
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• 제29권9호
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• pp.1353-1362
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• 2016

Hanwoo, a Korean native cattle (Bos taurus coreana), has great economic value due to high meat quality. Also, the breed has genetic variations that are associated with production traits such as health, disease resistance, reproduction, growth as well as carcass quality. In this study, next generation sequencing technologies and the availability of an appropriate reference genome were applied to discover a large amount of single nucleotide polymorphisms (SNPs) in ten Hanwoo bulls. Analysis of whole-genome resequencing generated a total of 26.5 Gb data, of which 594,716,859 and 592,990,750 reads covered 98.73% and 93.79% of the bovine reference genomes of UMD 3.1 and Btau 4.6.1, respectively. In total, 2,473,884 and 2,402,997 putative SNPs were discovered, of which 1,095,922 (44.3%) and 982,674 (40.9%) novel SNPs were discovered against UMD3.1 and Btau 4.6.1, respectively. Among the SNPs, the 46,301 (UMD 3.1) and 28,613 SNPs (Btau 4.6.1) that were identified as Hanwoo-specific SNPs were included in the functional genes that may be involved in the mechanisms of milk production, tenderness, juiciness, marbling of Hanwoo beef and yellow hair. Most of the Hanwoo-specific SNPs were identified in the promoter region, suggesting that the SNPs influence differential expression of the regulated genes relative to the relevant traits. In particular, the non-synonymous (ns) SNPs found in CORIN, which is a negative regulator of Agouti, might be a causal variant to determine yellow hair of Hanwoo. Our results will provide abundant genetic sources of variation to characterize Hanwoo genetics and for subsequent breeding.

• 한국가금학회지
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• 제45권4호
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• pp.291-298
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• 2018

TBC1D1 gene has known functional effects on body energy homeostasis and glucose uptake pathway in skeletal muscle tissue. This biological function is reported to have significant effects on traits of growth and meat quality in chicken. In this study, we focused on two single nucleotide polymorphisms (SNPs) (g.70179137A>G and g.70175861T>C) identified through SNP annotation information of Korean native chicken and previous literature for TBC1D1 in chicken. Association of SNPs in TBC1D1 with growth and serum clinical-chemical traits were evaluated. A total of 584 male and female birds from five Korean native chicken lines were used in the study. The SNP1 (g.70179137A>G) is located in intron 11 and SNP2 (g.70175861T>C) is a non-synonymous missense mutation in exon 10, responsible for the amino acid change from Methionine to Valine. The A allele of SNP1 and T allele of SNP2 had the highest allele frequencies. Both SNPs indicated moderate polymorphism information content values (0.25

• Asian-Australasian Journal of Animal Sciences
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• 제32권7호
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• pp.939-948
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• 2019

Objective: Extension and Agouti loci play a key role for proportions of eumelanin and pheomelanin in determining coat color in several species, including goat. Mongolian goats exhibit diverse types of coat color phenotypes. In this study, investigation of the melanocortin 1 receptor (MC1R) coding region in different coat colors in Mongolian goats was performed to ascertain the presence of the extension allele. Methods: A total of 105 goat samples representing three goat breeds were collected for this study from middle Mongolia. A 938 base pair (bp) long coding region of the MC1R gene was sequenced for three different breeds with different coat colors (Gobi Gurwan Saikhan: complete black, Zalaa Jinstiin Tsagaan: complete white, Mongolian native goat: admixture of different of coat colors). The genotypes of these goats were obtained from analyzing and comparing the sequencing results. Results: A total of seven haplotypes defined by five substitution were identified. The five single nucleotide polymorphisms included two synonymous mutations (c.183C>T and c.489G>A) and three missense (non-synonymous) mutations (c.676A>G, c.748T>G, and c.770T>A). Comparison of genotypes frequencies of two common missense mutions using chi-sqaure ($x^2$) test revealed significant differences between coat color groups (p<0.001). A logistic regression analysis additionally suggested highly significant association between genotypes and variation of black versus white uniform combination. Alternatively, most investigated goats (60.4%) belonged to H2 (TGAGT) haplotype. Conclusion: According to the findings obtained in this study on the investigated coat colors, mutations in MC1R gene may have the crucial role for determining eumelanin and pheomelanin phenotypes. Due to the complication of coat color phenotype, more detailed investigation needed.

• Asian Pacific Journal of Cancer Prevention
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• 제15권6호
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• pp.2747-2751
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• 2014

Background: DNA repair pathways play a crucial role in maintaining the human genome. Previous studies associated DNA repair gene polymorphisms (XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln) with nasopharyngeal carcinoma. These non-synonymous polymorphisms may alter DNA repair capacity and thus increase or decrease susceptibility. The present study aimed to determine the genotype distribution of XPD codon 751, XRCC1 codon 280 and codon 399 polymorphisms and haplotype associations among NPC cases and controls in the Malaysian population. Materials and Methods: We selected 157 NPC cases and 136 controls from two hospitals in Kuala Lumpur, Malaysia for this study. The polymorphisms studied were genotyped by PCR-RFLP assay and allele and genotype frequenci es, haplotype and linkage disequilibrium were determined using SNPstat software. Results: For the XPD Lys751Gln polymorphism, the frequency of the Lys allele was higher in cases than in controls (94.5% versus 85.0%). For the XRCC1 Arg280His polymorphism, the frequency of Arg allele was 90.0% and 89.0% in cases and controls, respectively and for XRCC1 Arg399Gln the frequency of the Arg allele was 72.0% and 72.8% in cases and controls respectively. All three polymorphisms were in linkage disequilibrium. The odds ratio from haplotype analysis for these three polymorphisms and their association with NPC was 1.93 (95%CI: 0.90-4.16) for haplotype CGC vs AGC allele combinations. The global haplotypte association with NPC gave a p-value of 0.054. Conclusions: Our study provides an estimate of allele and genotype frequencies of XRCC1Arg280His, XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms in the Malaysian population and showed no association with nasopharyngeal cancer.

• 한국축산식품학회지
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• 제30권4호
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• pp.655-660
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• 2010

This study aimed to identify genetic polymorphisms associated with fatty acid composition in Hanwoo beef. In this study, three SNPs (-867G>C, -877Gdel and 878T>C) were detected in SCD gene by DNA sequencing and PCR-RFLP. Statistical analysis revealed that 878T>C SNP was significantly associated with total saturated (p=0.016), unsaturated (p=0.016), and monounsaturated fatty acid (p=0.026) composition. However, the other two SNPs (-867G>C and -877Gdel) that are detected in the regulatory region of the SCD gene have no association with the fatty acid composition of Hanwoo meat. The 878C (alanine type) allele was found to be associated with 2.2% higher monounsaturated fatty acid, 1.5% lower saturated fatty acid, and 1.4% higher unsaturated fatty acid content than those associated with the 878T (valine type) allele. These results indicate that the non-synonymous SNP (878T>C) in the SCD gene could be a causal mutation that contributes to the MUFA variation in Hanwoo beef.