• Asian Pacific Journal of Cancer Prevention
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• v.13 no.4
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• pp.1599-1603
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• 2012

Objectives: Since methylenetetrahydrofolate reductase (MTHFR) maintains the balance of circulating folate and methionine and blocks the formation of homocysteine, its regulation in relation to different cancers has extensively been studied in different populations. However, information on Pakistani breast cancer patients is lacking. The MTHFR gene has two most common mutations that are single nucleotide additions which result in change of amino acids C677T to Ala222val and A1298C to Glu429Ala. Methodology: 110 sporadic breast patients with no prior family history of cancer or any other type of genetic disorders along with 110 normal individuals were screened for mutations in exons 1 to exon 9 using single strand conformational polymorphism, RFLP and sequencing analyzer. Results: The p values for the 677CC, 677CT, and 677TT genotypes were 0.223, 0.006, and 0.077, respectively. Those for the 1298AA, 1298AC, and 1298CC genotypes were 0.555, 0.009, and 0.003, respectively. Conclusions: We found an overall a significant, weak inverse association between breast cancer risk and the 677TT genotype and an inverse association with the 1298C variant. These results for MTHFR polymorphism might be population specific in sporadic breast cancer affected patients but many other factors need to be excluded before making final conclusions including folate intake, population and disease heterogeneity.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.1
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• pp.103-108
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• 2015

Curcumin is widely used as a traditional medicine. This work was aimed to investigate its possible protective effect against chemically induced hepatocellular carcinoma (HCC) in rats. Fifty male albino rats were divided into five groups (n=10, each). The control group received a single dose of normal saline, the diethylnitrosamine (DENA) group received a single intra-peritoneal dose at 200mg/kg body weight, and the 3rd, 4th and 5th groups were given DENA and daily administrated curcunine (CUR) via intra-gastric intubation in doses of 300, 200 and 100 mg/kg b.wt. respectively for 20 weeks. Serum, and liver samples were used for determination of alpha feto-protein (AFP), interleukin-2 (IL-2), interleukine-6 (IL-6), serum liver enzymes (AST, ALT, ALP and GGT) levels as well the activities and gene expression of glutathione peroxidise (GPx), glutathione reductase (GR), catalase (CAT) and super oxide dismutase (SOD). Curcumin significantly lowered the serum levels of AFP, IL-2 and IL-6, ALT, ALT, and malondialdehyde (MDA) as well gene expression of IL-2 and IL-6. In contrast it increased the gene expression and activities of Gpx, GRD, CAT and SOD. The protective effect of CUR against DEN-induced hepatocarcinogenesis in albino rats was proven.

• Proceedings of the Botanical Society of Korea Conference
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• 1999.07a
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• pp.41-44
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• 1999

Magnaporthe grisea (Hebert) Barr (anamorph: Pyricularia grisea) is a typical heterothallic Ascomycete and the causal agent of rice blast, one of the most destructive diseases on rice (Oryza sativa L.) worldwide. The interactions between cells of the pathogen and those of the host involve a complex of biological influences which can lead to blast disease. The early stages of infection process in particular may be viewed as a sequence of discrete and critical events. These include conidial attachment, gemination, and the formation of an appressorium, a dome-shaped and melanized infection structure. Disruption of this process at any point will result in failure of the pathogen to colonize host tissues. This may offer a new avenue for developing innovative crop protection strategies. To recognize and capture such opportunities, understanding the very bases of the pathogenesis at the cellular and molecular level is prerequisite. Much has been learned about environmental cues and endogenous signaling systems for the early infection-related morphogenesis in M. grisea during last several years. The study of signal transduction system in phytopathogenic filamentous fungi offers distinct advantages over traditional mammalian systems. Mammalian systems often contain multiple copies of important genes active in the same tissue under the same physiological processes. Functional redundancy, alternate gene splicing, and specilized isoforms make defining the role of any single gene difficult. Fungi and animals are closely related kingdoms [3], so inferences between these organisms are often justified. For many genes, fungi frequently possess only a single copy, thus phenotype can be attributed directly to the mutation or deletion of any particular gene of interest.

• Proceedings of the Botanical Society of Korea Conference
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• 1985.08b
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• pp.19-22
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• 1985

Magnaporthe grisea (Hebert) Barr (anamorph: Pyricularia grisea) is a typical heterothallic Ascomycete and the causal agent of rice blast, one of the most destructive diseases on rice (Oryza sativa L.) worldwide. The interactions between cells of the pathogen and those of the host involve a complex of biological influences which can lead to blast disease. The early stages of infection process in particular may be viewed as a sequence of discrete and critical events. These include conidial attachment, gemination, and the formation of an appressorium, a dome-shaped and melanized infection structure. Disruption of this process at any point will result in failure of the pathogen to colonize host tissues. This may offer a new avenue for developing innovative crop protection strategies. To recognize and capture such opportunities, understanding the very bases of the pathogenesis at the cellular and molecular level is prerequisite. Much has been learned about environmental cues and endogenous signaling systems for the early infection-related morphogenesis in M. grisea during last several years. The study of signal transduction system in phytopathogenic filamentous fungi offers distinct advantages over traditional mammalian systems. Mammalian systems often contain multiple copies of important genes active in the same tissue under the same physiological processes. Functional redundancy, alternate gene splicing, and specilized isoforms make defining the role of any single gene difficult. Fungi and animals are closely related kingdoms [3], so inferences between these organisms are often justified. For many genes, fungi frequently possess only a single copy, thus phenotype can be attributed directly to the mutation or deletion of any particular gene of interest.

• Korean Journal of Veterinary Research
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• v.45 no.3
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• pp.351-357
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• 2005

Here I describe a multiplex allele specific PCR-based approach for the rapid detection between Hanwoo and Holstein meat associated with Melanocortin 1 receptor (MC1R) gene. Specific and universal oligonucleotide primers were used in combination to detect the presence of a single nucleotide polymorphism within the bovine MC1R DNA sequence. The presence of the bovine MC1R gene is indicated by the production of a single control PCR product, whilst positive samples generate an alternative smaller specific product over the same region. The mutations in MC1R104 codon revealed depending on the presence or absence of an indicative fragment amplified from the wild-type allele of this codon. As little as 0.39 ng and 1.56 ng of genomic DNA of Hanwoo and Holstein could be detected by MAS-PCR assay, respectively. This technique, which is widely used in human genetic screening, provides a reliable and sensitive result that has not been documented for the identification of bovine coat color. The MAS-PCR assay approach was proven to be useful in complementing routine beef DNA analysis for differentiation of these MC1R variants and it would facilitate the screening of deceiving sales of Holstein meat in the butcher shop.

• Korean Journal of Veterinary Research
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• v.45 no.3
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• pp.335-339
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• 2005

The melanocortin 1 receptor (MC1R) plays an important role in regulation of melanin pigment synthesis within mammalian melanocytes. Mutations within the gene encoding MC1R have been shown to explain coat color variations within several mammalian species including cattle. To develope a rapid and accurate method for the identification of Hanwoo, we performed a modified PCR-RFLP analysis of MC1R gene using single nucleotide polymorphism (SNP) within MC1R as a target. A size of 538 bp (537 bp for Hanwoo) was amplified by PCR, digested with Hpa II, and electrophoresed on a 1.5% agarose gel. A PCR product from Hanwoo showed a single band of 537 bp, whereas two fragments of 328 bp and 210 bp were detected in both Holstein and Black angus. The current result suggests that the PCR-RFLP using our primers and enzyme digestion system would be very accurate, easy and reproducible method to discriminate between Hanwoo and Holstein/Black angus meat.

• Genomics & Informatics
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• v.8 no.3
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• pp.116-121
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• 2010

The association between adiponectin concentration and obesity have been reported and genetic variations of the ADIPOQ gene are known to influence the plasmatic concentration of adiponectin. Therefore, we investigated the effect of AIPOQ single nucleotide polymorphism (SNP) on obesity-related variables, and their modulation by dietary intakes in Korean women. The subjects consisted of 3,217 Korean women aged 40-59 years participating in the Korean Genome Epidemiology Study (KoGES). The general characteristics, anthropometric variables, serum blood profiles were measured. Dietary intake was analyzed using the Food Frequency Questionnaire. Subjects with the T allele of AIPOQ rs182052 showed significantly higher obesity-related variables such as weight (p=0.005), BMI (p<0.000), fat body mass (p=0.005), and waist-hip ratio (p=0.007) than those with the C allele. Moreover, the rs182052 T allele was associated with an increased risk of obesity prevalence (p=0.019). However, there were not any significant interactions observed between the genotype of ADIPOQ rs182052 and dietary intake on BMI and fat body mass. These findings suggest that the obesity-related variables may be more dominantly affected by the genotype of ADIPOQ rs182052 than dietary intake in middle aged Korean women.

• Asian-Australasian Journal of Animal Sciences
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• v.20 no.12
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• pp.1812-1819
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• 2007

Heart fatty acid-binding protein gene (H-FABP) is an important candidate gene for meat quality. One of the objectives of this study was to screen single nucleotide polymorphisms (SNP) of chicken H-FABP gene among 252 individuals that included 4 Chinese domestic chicken breeds (Fengkai Xinghua (T04), Huiyang Huxu (H), Qingyuan Ma (Q), Guangxi Xiayan (S1)), 2 breeds developed by the Institute of Animal Science, Guangdong Academy of Agricultural Sciences (Lingnan Huang (DC), dwarf chicken (E4)) and one introduced broiler (Abor Acre (AA)). Another objective of this study was to analyze the associations between polymorphisms of the H-FABP gene and fat deposition traits in chickens. PCR-SSCP was used to analyze SNPs in H-FABP and 4 SNPs (T260C, G675A, C783T and G2778A) were detected. Associations between polymorphic loci and intramuscular fat (IMF), abdominal fat weight (AFW) and abdominal fat percentage (AFP) were analyzed by ANCOVA method. The results showed that the T260C genotypes were significantly associated with IMF (p = 0.0233) and AFP (p = 0.0001); the G675A genotypes were significantly associated with AFW, AFP (p<0.01) and IMF (p<0.05); at the C783T locus, AFW and AFP differed highly between genotypes. However, the G2778A loci did not show any significant effect on fat deposition traits in this study. In addition, we found that there were some differences between AFP and definite haplotypes through a nonparametric statistical method, so the haplotypes based on the SNPs except G2778A loci were also significantly associated with IMF, AFW (g) (p<0.05) and AFP (%) (p<0.001). Significantly and suggestively dominant effects of H4H4 haplotype were observed for IMF and the H2H3 was dominant for AFW (g) and AFP (%). The results also revealed that H5H7 haplotype had a negative effect on IMF, while the H5H6 had a positive effect on AFW (g) and AFP (%).

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.4
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• pp.463-470
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• 2011

Gonadotropin-releasing hormone receptor (GnRHR) gene is expressed at the anterior pituitary gland and plays a key role in gonad development. This study aimed to investigate molecular genetic characteristics of the GnRHR gene and elucidate the effects of single nucleotide polymorphisms (SNPs) of GnRHR gene on sex steroid level in Japanese flounder (Paralichthys olivaceus). We used polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) and sequencing of the GnRHR gene in 75 individuals. We identified three SNPs in the GnRHR gene: P1 locus (C759A and C830T) in the coding region of exon2 which were both linked together and P2 locus (G984T) in the coding region of exon3, which added a new transcript factor (ADR1) and a new methylation site (CG). Only C830T of P1 leads to amino acid changes Thr266Ile. Statistical analysis showed that P1 was significantly associated with $17{\beta}$-estradiol ($E_2$) level (p<0.01) and gonadosomatic index (GSI) (p<0.05). Individuals with genotype BB of P1 had significantly higher serum $E_2$ levels (p<0.01) and GSI (p<0.05) than those of genotype AA or AB. Another SNP, P2, synonymous mutation, was significantly associated with GSI (p<0.05). Individuals with genotype AB of P2 had significantly higher GSI (p<0.05) than that of genotype AA. In addition, there was a significant association between one diplotype based on three SNPs and reproductive traits. The genetic effects for both serum $E_2$ level and GSI of diplotype D4 were super diplotypes (p<0.05). These results suggest that the SNPs in Japanese Flounder GnRHR are associated with $E_2$ level and GSI.

• Journal of Life Science
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• v.26 no.1
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• pp.1-7
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• 2016

Fatness is one of the most important economic traits in pigs. The leptin receptor (LEPR) gene may be a potential candidate for the fatness quantitative trait locus (QTL) on porcine chromosome 6, due to its position and physiological role. Thus, this study was carried out to evaluate the associations between structural variants in the LEPR gene and economic traits in pigs. We obtained an approximately 114-kb sequence containing the complete genomic DNA of the porcine LEPR gene, using shotgun sequencing of a bacterial artificial chromosome clone. We report the complete genomic structure of the porcine LEPR gene. Dozens of transcription factor-binding sites were found in the 1.2 kb upstream region from the transcription start point. An association study was performed with 550 Duroc pigs for 24 single-nucleotide polymorphisms (SNPs), including 6 SNPs within exons and 18 SNPs within the putative 5‘ regulatory region of the porcine LEPR gene. Among them, one SNP (−790C/G) was significantly associated with backfat thickness and lean meat percentage, whereas the others, including two SNPs with missense polymorphisms, had no effect on any phenotype. These results suggest that SNP −790C/G may be a useful marker for genetic improvements of fatness and leanness in Duroc pigs.