• Genomics & Informatics
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• v.9 no.2
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• pp.59-63
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• 2011

Obesity provokes many serious human diseases, including various cardiovascular diseases and diabetes. Body mass index (BMI) is a highly heritable trait that is broadly used to diagnose obesity. To identify genetic loci associated with obesity in Asians, we conducted a genome-wide association study (GWAS) of a population of Korean adults (n=6,742, age 40~60 years) and detected six BMI risk loci (TNR, FAM124B, RGS12, NFE2L3, MC4R and FTO) having p< $1{\times}10^{-5}$. However, in the replication study, only melanocortin 4 receptor gene (MC4R) (rs9946888, p=$4.58{\times}10^{-7}$) was replicated with marginal significance (p<0.05) in the second cohort (n=5,102, age 40~60 years). This study indicates that each locus associated with BMI has very weak genetic effect.

• Journal of the Korean Chemical Society
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• v.53 no.6
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• pp.742-748
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• 2009

In the meat industry, correct breed information in food labeling is required to assure meat quality. Genetic markers provide corroborating evidence to identify breed. We described the development of DNA markers to discriminate between Korean beef cattle (Hanwoo), Holstein, and mixed cow beefs. As most breeds are standardized for coat colour, the melanocortin 1 receptor (MC1R) gene, involved in the regulation of eu/pheomelanins synthesis, has been suggested as marker for breed traceability of products of animal origin. We also designed sex-determining region Y (SRY) gene specific primers for Y chromosome detection. In this study, fragments of MC1R gene and SRY gene were amplified by multiplex-PCR and subjected to digestion by MspA1I restriction endonuclease. Reaction products were analysised by denaturing high performance liquid chromatography (DHPLC). As a result, we identified 6 DHPLC peak types from MC1R gene and SRY gene analysis. DHPLC method showed more sensitive than RFLP method for DNA fragments analysis. Therefore, DHPLC method can apply to identify for Hanwoo, Holstein and mixed beef.

• Journal of Animal Science and Technology
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• v.46 no.1
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• pp.1-6
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• 2004

This study was conducted to investigate novel genetic variations of MCIR^*3 allele. In general, white spotting or white belt on a black backgroud in pigs is determined by the E$^p$ allele at the MCIR/Extention locus. E$^p$ shares a frameshift mutation with the E$^{D2}$ allele for dominant black color. An oligonucleotide primer set was designed to amplify complete coding sequence of the porcine MCIR gene. The MCIR coding sequences obtained from five breeds those were Landrace(white). Yorkshire(white), Hampshire(belt), Berkshire(spot) and Jeju native black pigs(black), were used for this study. A multiple sequence alignment of the MCIR coding region using Clustal W was performed. The total length of the MCIR coding sequence ranged from 963 to 966 base pairs(bp) among the selected breeds. The sequence analysis of the complete coding region of MCIR was revealed that Hampshire and Jeju native black pig have 3 cytosines deletion and Birkshire has 2 cytosines deletion at codon 23(nt68) in Extention loci. Besides the finding, there were three different missense mutations and a frameshift mutation in the MCIR coding region.

• Korean Journal of Poultry Science
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• v.41 no.1
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• pp.7-14
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• 2014

Tyrosinase (TYR) gene is located on chromosome 1 in chicken and it is composed of five exons and four introns. TYR gene is described as a key enzyme in melanin biosynthesis. Most examples of complete albinism in chicken have been due to defects in the tyrosinase gene. The association of feather color and sequence polymorphism in the Tyrosinase (TYR) gene was investigated using Korean Native chicken H breed (H_PL), Korean Native chicken L/W breed(L/W_PL) and 'Woorimatdag' commercial chickens (Woorimatdag_CC). From L_PL and W_PL breed analyses, 4 synonymous SNPs (locus G33A, G116A, C217T and C247T) and 2 SNPs (G838A and G958A) were detected in 4th exon and 4th intron of TYR gene respectively. The genotype frequencies for 6 SNPs were compared between L_PL and W_PL and W_PL represented homozygous SNP types in all the analyzed SNP positions while L_PL displayed various SNP types.