• Asian-Australasian Journal of Animal Sciences
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• v.27 no.3
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• pp.316-323
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• 2014

We previously identified quantitative trait loci (QTL) for body weight and average daily gain in a common region between ADL0198 (chr 1: 171.7 Mb) and ABR0287 (chr 1: 173.4 Mb) on chicken chromosome 1 in an $F_2$ resource population produced by crossing low- and high-growth lines of the Hinai-dori breed. Motilin receptor (MLNR) is a candidate gene affecting growth traits in the region. In this study, we genotyped polymorphisms of the MLNR gene and investigated its association with growth traits in a Hinai-dori $F_2$ intercross population. All the exons of the MLNR gene in the parental population were subjected to PCR amplification, nucleotide sequenced and haplotypes identified. To distinguish resultant diplotype individuals in the $F_2$ population, a mismatch amplification mutation assay was performed. Three haplotypes (Haplotypes 1-3) were accordingly identified. Six genotypes produced by the combination of three haplotypes (Haplotype 1, 2, and 3) were examined in order to identify associations between MLNR haplotypes and growth traits. The data showed that Haplotype 1 was superior to Haplotype 2 and 3 in body weight at 10 and 14 weeks of age, average daily gain between 4 and 10 weeks, 10 and 14 weeks, and 0 and 14 weeks of age in female in $F_2$ females. It was concluded that MLNR is a useful marker of growth traits and could be used to develop strategies for improving growth traits in the Hinai-dori breed.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.5
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• pp.3309-3314
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• 2013

Spleen tyrosine kinase (SYK) is a non-receptor type cytoplasmic protein and a known tumor suppressor gene in breast cancer. Polymorphisms in SYK have been reported to be associated with cell invasion/cell morality and an increased risk of cancer development. In this case control study, all exons of the SYK gene and its exon/ intron boundaries were amplified in 200 breast cancer cases and 100 matched controls and then analyzed by single stranded conformational polymorphism. Amplified products showing altered mobility patterns were sequenced and analyzed. Twelve variations were identified in exonic and intronic regions of DNA encoding SH2 domain and kinase domain of the SYK gene. All of these mutations are novel. Among them, 5 missense mutations were observed in exon 15 while one missense mutation was found in exon 8. In addition to these mutations, six mutations were also identified in intronic regions. We found a significant association between SYK mutations and breast cancer and observed that Glu241Arg, a missense mutation is associated with an increase risk of ~7 fold (OR=6.7, 95% CI=1.54-28.8), Thr581Pro (missense mutation) is associated with increased risk of ~16 fold (OR=15.5, 95%CI=2.07-115.45) and 63367 T>G (missense mutation) is associated with increased risk of ~13 fold (OR=12.8, 95%CI=1.71-96.71) for breast cancer. Significant associations were observed for each of these variations with both late menopause (p<0.01) and early menarche (p<0.005) cases when compared to controls. Our findings suggest that the polymorphic gene SYK may contribute to the development of breast cancer in at least the Pakistani population. This study provides an insight view of SYK which may provide a significant finding for the pharmaceutical and biotechnology industry.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.5
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• pp.3213-3217
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• 2013

Background: P-glycoprotein (Pgp), encoded by the multidrug resistance 1 (MDR1) gene, is an efflux transporter which plays an important role in pharmacokinetics. The current preliminary study was designed to determine associations between a germ-line polymorphism in the MDR1 gene with differentiated thyroid carcinoma (DTC). Materials and Methods: In the current case-control study, 60 differentiated thyroid cancers (DTC)- 45 papillary TC (PTC), 9 follicular TC(FTC) and 6 well-differentiated tumors of uncertain malignant potential (WDT-UMP) were examined. Results were compared to a healthy control group (n=58) from the same population. Genomic DNA was extracted from peripheral blood with EDTA and the target gene was genotyped by real-time PCR. Results: Carriers of the variant allele of MDR1 exon 26 polymorphism were at 2.8-fold higher risk of DTC than the control group (odds ratio [OR]: 0.3805, 95% confidence interval [Cl]: 0.1597-0.9065 (p> 0.046). Conclusions: Presented results suggest that the MDR1 3435TT genotype might influence risk of development of DTC and that the CC genotype might be linked to a poor prognosis. Large-scale studies are now needed to validate this association.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.9
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• pp.5067-5072
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• 2013

Background: The phosphatidylinositol 3-kinase (PI3K) pathway plays a significant role in apoptosis, cellular proliferation and motility. The aim of the present study was to analyze mutations and gene expression profiles of the PI3KCA gene to determine any role in breast carcinomas. Materials and Methods: We analyzed 38 breast cancers for mutations in the two PIK3CA hotspots in exons 9 and 20 by direct sequencing of DNA obtained from biopsy samples. We have also analyzed expression of the PI3KCA gene in 38 breast carcinoma tumor and corresponding control tissue samples at the mRNA level by RT-PCR. The Fisher's exact test ($2{\times}2$ only) was performed using MedCalc software for to examine associations with mRNA levels. Results: In the present study a total of 13 cases demonstrated somatic mutations. In 9/13 cases 1633 G>A (E545K) were found in exon 9, whereas in exon 20, 4/13 cases had 3140A>G mutation. Our combined analysis showed PI3KCA mutations present in 34% of human breast cancer patients. In our study, we have also clearly found significantly higher expression in breast cancer tissues in comparison with control tissues (p=0.001). Conclusions: PIK3CA mutation is an emerging tumor marker that, in the future, might be used in the process of choosing a treatment. The detection of PI3KCA mutation might have important clinical implications for diagnosis, progression and therapy.

• Korean Journal of Agricultural Science
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• v.40 no.3
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• pp.215-220
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• 2013

Fatty acids (FAs) were considered in activating nuclear hormone receptors that play significant roles in the cellular lipid metabolism by the regulation of several genes. Previously, fatty acid synthase (FASN) and stearoyl-CoA desaturase (SCD) genes have been known to regulating the FA metabolism. In this study, associations of FASN and SCD genes with fatty acid (FA) composition in broilers were investigated. Tissue samples from 95 Cobb 500 broilers were used for DNA extraction. The g.1222 A>G SNP located in intron 42 of FASN gene and 2 SNPs in SCD gene, one in exon 2 (g.3728A>G) and the other in exon 4 (g.12903G>A), were subjected for genotyping using PCR-RFLP method. One of the SNPs in SCD gene, SNP g.3728A>G had significant association with myristoleic acid (C14:1; P<0.05), palmitic acid (C16:0; P<0.05), palmitoleic acid (C16:1; P<0.05) and saturated FA (SFA; P<0.05). However, the SNP g.1222A>G in FASN gene had only suggestive association with arachidic acid (C20:0; P=0.08). The findings in this study suggest that the SNP in exon 2 of SCD gene can be used as a molecular marker for selecting birds having desirable FA composition in broilers.

• Environmental Analysis Health and Toxicology
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• v.21 no.1 s.52
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• pp.27-34
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• 2006

Numerous studies reported the significant association between genetic polymorphisms in the vitamin D receptor (VDR) gene and various bone phenotypes such as bone mineral density (BMD) and bone quality, although conflicting results were produced. The objective of this study was to investigate the association between a TaqI RFLP in the VDR gene and calcaneal BMD in Korean vegetarian men, and its interaction with nutrition status as an environmental factor. BUA (broadband ultrasound attenuation), SOS (sound of speed) and stiffness index of the calcaneus were measured using an ultrasound bone densitometer in 266 Korean men (age: $mean{\pm}SD;\;50.9{\pm}12.0$ year), and a TaqI RFLP in the VDR gene analysed by PCR-RFLP method. In total subjects, the distribution of TT, Tt and tt genotypes occurred with frequencies of 90.8%, 8.8% and 0.4%, respectively. There were no significant associations between this polymorphism and osteopenia-osteoporosis or several bone phenotypes in our subjects irrespectively of nutrition status (P>0.05). Therefore, our results suggest that a TaqI RFLP in the vitamin D receptor gene does not contribute to the susceptibility to the calcaneal BMD in Korean men.

• Herbal Formula Science
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• v.31 no.4
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• pp.295-313
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• 2023

Objectives : While treatments for cancer are advancing, the development of effective treatments for cancer metastasis, the main cause of cancer patient death, remains insufficient. Recent studies on Dichroae Radix have revealed that its active ingredients have the potential to inhibit cancer metastasis. This study aimed to investigate the cancer metastasis inhibitory effect of Dichroae Radix using network pharmacological analysis. Methods : The active compounds of Dichroae Radix have been identified using Traditional Chinese Medicine System Pharmacology Database and Analysis Platform. The UniProt database was used to collect each of information of all target proteins associated with the active compounds. To find the bio-metabolic processes associated with each target, the DAVID6.8 Gene Functional classifier tool was used. Compound-Target and Target-Pathway networks were analyzed via Cytoscape 3.40. Results : In total, 25 active compounds and their 62 non-redundant targets were selected through the TCMSP database and analysis platform. The target genes underwent gene ontology and pathway enrichment analysis. The gene list applied to the gene ontology analysis revealed associations with various biological processes, including signal transduction, chemical synaptic transmission, G-protein-coupled receptor signaling pathways, response to xenobiotic stimulus, and response to drugs, among others. A total of eleven genes, including HSP90AB1, CALM1, F2, AR, PAKACA, PTGS2, NOS2, RXRA, ESR1, ESR2, and NCOA1, were found to be associated with biological pathways related to cancer metastasis. Furthermore, nineteen of the active compounds from Dichroae Radix were confirmed to interact with these genes. Conclusions : The results provide valuable insights into the mechanism of action and molecular targets of Dichroae Radix. Notably, Berberine, the main active ingredient of Dichroae Radix, plays a significant role in degrading AR proteins in advanced prostate cancer. Further studies and validations can provide crucial data to advance cancer metastasis prevention and treatment strategies.

• Journal of Life Science
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• v.29 no.12
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• pp.1314-1320
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• 2019

This study aimed to identify single nucleotide polymorphisms in exon 8 region of the calmin (CLMN) gene and to evaluate their associations with meat yield and quality traits in Hanwoo (Korean cattle). We compared gene expression pattern of CLMN between high and low marbling score groups with extremely different intramuscular fat content of the longissimus lumborum muscles in Hanwoo. The CLMN gene was highly expressed in the high marbling score group. Total of nine SNPs were identified in the exon 8 region of CLMN gene, genotyping of the SNPs was carried out using direct-sequencing analysis in Hanwoo population (n=300) to evaluate their association with meat yield and quality traits. As a result, g.23249G>C in exon 8 was significantly associated with marbling score. Animals with the CC and GC genotypes had higher marbling score than those with the GG genotype. We constructed haplotypes of CLMN gene by linkage disequilibrium analysis and analyzed association between haplotypes and meat yield and quality traits. Haplotype of CLMN gene was associated with marbling score. As a result, animals with the CC-CC haplotype (g.23249G>C and g.23465T>C SNPs) had higher marbling score than those with CT and GT haplotypes. These findings suggest that the SNPs of bovine CLMN gene may be a useful molecular marker for selection of meat quality traits in Hanwoo.

• Asian-Australasian Journal of Animal Sciences
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• v.16 no.11
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• pp.1555-1559
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• 2003

The objective of the present study was to explore associations between five microsatellites linked to $Fec^B$ and $FecX^I$ genes and litter size in Small Tail Han sheep. The polymorphisms of five microsatellite loci, OarAE101, BM1329, BMS2508, TGLA54 and TGLA68 were detected in 244 ewes of Small Tail Han sheep. Analysis of association between three microsatellite loci (BMS2508, BM1329 and OarAE101) located in the 10 cM region covering the $Fec^B$ gene (Booroola gene) and litter size in Small Tail Han sheep indicated that BMS2508 had significant effect on litter size in the second parity (p<0.05), but no significant effect on litter size in the first parity (p>0.05), while the other two microsatellite loci had no significant effect on litter size in both the first and the second parity in Small Tail Han sheep (p>0.05). At microsatellite locus BMS2508, least squares means in the second parity of genotypes 101/111 and 99/109 were significantly higher than those of genotypes 99/99, 99/101, 99/111 and 99/115 (p<0.05); least squares mean in the second parity of genotype 101/111 was significantly higher than that of genotypes 109/111 and 111/111 (p<0.05). Results of this study also indicated that two microsatellite loci (TGLA54 and TGLA68) that confined the 28.7 cM region covering the $FecX^I$ gene (Inverdale gene) did not affect litter size in both the first and the second parity in Small Tail Han sheep significantly (p>0.05). The information found in the present study is very important for improving the reproductive performance in sheep breeds by marker assisted selection.

• Asian-Australasian Journal of Animal Sciences
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• v.19 no.9
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• pp.1257-1261
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• 2006

Pleiomorphic adenoma gene-like1 (PLAGL1) encodes a zinc-finger (ZF) protein with seven ZFs of the C2H2-type which is a regulator of apoptosis and cell cycle arrest, and also regulates the secretion of insulin. In both human and mouse, PLAGL1 is a candidate gene for tumor suppressor and transient neonatal diabetes mellitus (TNDM). In this study, a 2,238 bp fragment covering the complete coding region was obtained and deposited to GenBank (accession number: DQ288899). The reverse transcriptase-polymerase chain reaction (RT-PCR) indicated that PLAGL1 was expressed almost equally in heart, liver, spleen, lung, kidney, stomach, small intestine, skeletal muscle, fat, uterus and ovary. Comparing the sequences of Large White and Meishan pigs, a C-T transition in exon 6 was found. The polymorphism could be detected by TaqI and was genotyped in five purebreds (Large White, Landrace, Meishan, Tongcheng and Bamei). Association analysis was performed between the polymorphism and carcass traits in 276 pigs of a "Large White${\times}$Meishan" F2 resource population. As a consequence, significant associations of the genotypes with shoulder backfat thickness (SFT) and internal fat rate (IFR) were observed. Pigs with TT genotype had low SFT and high IFR compared with TC or CC genotypes.