• Title/Summary/Keyword: Candidate gene association study

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Identification of Single Nucleotide Polymorphism of H-FABP Gene and Its Association with Fatness Traits in Chickens

  • Wang, Yan;Shu, Dingming;Li, Liang;Qu, Hao;Yang, Chunfen;Zhu, Qing
    • 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 (%).

Microarray Analysis of Genes Involved with Shell Strength in Layer Shell Gland at the Early Stage of Active Calcification

  • Liu, Zhangguo;Zheng, Qi;Zhang, Xueyu;Lu, Lizhi
    • Asian-Australasian Journal of Animal Sciences
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    • v.26 no.5
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    • pp.609-624
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    • 2013
  • The objective of this study was to get a comprehensive understanding of how genes in chicken shell gland modulate eggshell strength at the early stage of active calcification. Four 32-week old of purebred Xianju hens with consistent high or low shell breakage strength were grouped into two pairs. Using Affymetrix Chicken Array, a whole-transcriptome analysis was performed on hen's shell gland at 9 h post oviposition. Gene ontology enrichment analysis for differentially expressed (DE) transcripts was performed using the web-based GOEAST, and the validation of DE-transcripts was tested by qRT-PCR. 1,195 DE-transcripts, corresponding to 941 unique genes were identified in hens with strong eggshell compared to weak shell hens. According to gene ontology annotations, there are 77 DE-transcripts encoding ion transporters and secreted extracellular matrix proteins, and at least 26 DE-transcripts related to carbohydrate metabolism or post-translation glycosylation modification; furthermore, there are 88 signaling DE-transcripts. GO term enrichment analysis suggests that some DE-transcripts mediate reproductive hormones or neurotransmitters to affect eggshell quality through a complex suite of biophysical processes. These results reveal some candidate genes involved with eggshell strength at the early stage of active calcification which may facilitate our understanding of regulating mechanisms of eggshell quality.

Gene Expression Patterns Associated with Peroxisome Proliferator-activated Receptor (PPAR) Signaling in the Longissimus dorsi of Hanwoo (Korean Cattle)

  • Lim, Dajeong;Chai, Han-Ha;Lee, Seung-Hwan;Cho, Yong-Min;Choi, Jung-Woo;Kim, Nam-Kuk
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.8
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    • pp.1075-1083
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    • 2015
  • Adipose tissue deposited within muscle fibers, known as intramuscular fat (IMF or marbling), is a major determinant of meat quality and thereby affects its economic value. The biological mechanisms that determine IMF content are therefore of interest. In this study, 48 genes involved in the bovine peroxisome proliferator-activated receptor signaling pathway, which is involved in lipid metabolism, were investigated to identify candidate genes associated with IMF in the longissimus dorsi of Hanwoo (Korean cattle). Ten genes, retinoid X receptor alpha, peroxisome proliferator-activated receptor gamma (PPARG), phospholipid transfer protein, stearoyl-CoA desaturase, nuclear receptor subfamily 1 group H member 3, fatty acid binding protein 3 (FABP3), carnitine palmitoyltransferase II, acyl-Coenzyme A dehydrogenase long chain (ACADL), acyl-Coenzyme A oxidase 2 branched chain, and fatty acid binding protein 4, showed significant effects with regard to IMF and were differentially expressed between the low- and high-marbled groups (p<0.05). Analysis of the gene co-expression network based on Pearson's correlation coefficients identified 10 up-regulated genes in the high-marbled group that formed a major cluster. Among these genes, the PPARG-FABP4 gene pair exhibited the strongest correlation in the network. Glycerol kinase was found to play a role in mediating activation of the differentially expressed genes. We categorized the 10 significantly differentially expressed genes into the corresponding downstream pathways and investigated the direct interactive relationships among these genes. We suggest that fatty acid oxidation is the major downstream pathway affecting IMF content. The PPARG/RXRA complex triggers activation of target genes involved in fatty acid oxidation resulting in increased triglyceride formation by ATP production. Our findings highlight candidate genes associated with the IMF content of the loin muscle of Korean cattle and provide insight into the biological mechanisms that determine adipose deposition within muscle.

Identification of Functional and In silico Positional Differentially Expressed Genes in the Livers of High- and Low-marbled Hanwoo Steers

  • Lee, Seung-Hwan;Park, Eung-Woo;Cho, Yong-Min;Yoon, Duhak;Park, Jun-Hyung;Hong, Seong-Koo;Im, Seok-Ki;Thompson, J.M.;Oh, Sung-Jong
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.9
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    • pp.1334-1341
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    • 2007
  • This study identified hepatic differentially expressed genes (DEGs) affecting the marbling of muscle. Most dietary nutrients bypass the liver and produce plasma lipoproteins. These plasma lipoproteins transport free fatty acids to the target tissue, adipose tissue and muscle. We examined hepatic genes differentially expressed in a differential-display reverse transcription-polymerase chain reaction (ddRT-PCR) analysis comparing high- and low-marbled Hanwoo steers. Using 60 arbitrary primers, we found 13 candidate genes that were upregulated and five candidate genes that were downregulated in the livers of high-marbled Hanwoo steers compared to low-marbled individuals. A BLAST search for the 18 DEGs revealed that 14 were well characterized, while four were not annotated. We examined four DEGs: ATP synthase F0, complement component CD, insulin-like growth factor binding protein-3 (IGFBP3) and phosphatidylethanolamine binding protein (PEBP). Of these, only two genes (complement component CD and IGFBP3) were differentially expressed at p<0.05 between the livers of high- and low-marbled individuals. The mean mRNA levels of the PEBP and ATP synthase F0 genes did not differ significantly between the livers of high- and low-marbled individuals. Moreover, these DEGs showed very high inter-individual variation in expression. These informative DEGs were assigned to the bovine chromosome in a BLAST search of MS marker subsets and the bovine genome sequence. Genes related to energy metabolism (ATP synthase F0, ketohexokinase, electron-transfer flavoprotein-ubiquinone oxidoreductase and NADH hydrogenase) were assigned to BTA 1, 11, 17, and 22, respectively. Syntaxin, IGFBP3, decorin, the bax inhibitor gene and the PEBP gene were assigned to BTA 3, 4, 5, 5, and 17, respectively. In this study, the in silico physical maps provided information on the specific location of candidate genes associated with economic traits in cattle.

The Effects of Estrogen Receptor Locus on Reproductive Tracts Components and Performance Traits in Large White×Meishan F2 Offspring

  • Li, Fenge;Lei, Minggang;Zheng, Rong;Zuo, Bo;Jiang, Siwen;Deng, Changyan;Xiong, Yuanzhu
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.9
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    • pp.1223-1226
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    • 2004
  • Previously candidate gene approach revealed estrogen receptor (ESR) locus was associated with increased litter size. In this study, PvuII polymorphisms of ESR gene was detected by PCR-RFLP, and ESR locus was evaluated for its association with reproductive tracts components in the Large $White{\times}Meishan$ ($LW{\times}M$) F2 offspring. Ninety seven gilts with reproductive tracts components records and 136 offspring with performance traits records were genotyped and the results were used to estimate allele substitution effects. The results showed that two alleles (A and B) were identified, and 121 bp fragments were observed for the AA genotype and 65 bp and 56 bp fragments for the BB genotype; the length of uterine body (LUB) of BB gilts were significantly shorter than AA gilts', the additive effect was -1.762 cm; the uterine weight (UW) of AB gilts were significantly lighter than AA gilts' with the additive effect -18.058 g; no significant associations of ESR alleles with ovulation rate (OR), length of uterine horn (LUH), length of uterine cervix (LUC), weight of two ovaries (OW), volume of uterine lumen (VUL), length of oviduct (LO) were observed. BB genotypes gilts need significantly less days to 100 kg ($D_{100kg}$) than AA genotypes (p<0.01), the additive effect was per copy of B allele. Allele B is also favorable for average daily gain (ADG), with additive effect 0.015 kg/d (p<0.05). There was no difference between genotypes for backfat thickness at the 13th rib (SF13), loin meat height (ELMH), and loin meat percentage was estimated (ELMP), individual birth weight (IBW) and teat number (TN).

Association between the Polymorphism in FUT1 Gene and the Resistance to PWD and ED in Three Pig Breeds

  • Luo, Yanru;Qiu, Xiaotian;Li, Hejun;Zhang, Qin
    • Asian-Australasian Journal of Animal Sciences
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    • v.23 no.10
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    • pp.1268-1275
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    • 2010
  • Post-weaning diarrhoea (PWD) and oedema disease (ED) caused by E. coli F18 always result in economic losses to pig producers, and no effective methods of controlling PWD and ED are presently available. FUT1 has been identified as a candidate gene controlling the expression of E. coli F18 receptor. This study examined the correlation between F18ab and F18ac adhesion phenotypes and the polymorphism at position M307 of the FUT1 gene in three pig breeds (231 Large White, 107 Landrace and 109 Songliao Black). The results showed: i) Both the susceptible genotypes (GG and GA) and the adhesion phenotypes (adhesive or weekly adhesive) were dominant in all three breeds with frequencies over 95%. ii) Three adhesion patterns of the two F18 variants F18ab and F18ac, i.e., ($ab^+$, $ac^+$), ($ab^+$, $ac^-$) and ($ab^-$, $ac^-$), were found in all three breeds, and there was no significant difference in the distribution of adhesion phenotypes of the two variants (separately or jointly) among the three breeds (p>0.05). iii) The FUT1 M307 genotypes were completely associated with the F18ab adhesion phenotypes and very strongly associated with the F18ac adhesion phenotypes. All individuals of genotype AA were non-adhesive to both F18ab and F18ac. All individuals of genotype GG or GA were adhesive to F18ab, whereas 11% of them were non-adhesive to F18ac. These results suggest that the polymorphism at FUT1 M307 can be used for marker-assisted selection of PWD and ED resistant pigs.

Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios

  • Park, Beyoung-Yun;Sull, Jae-Woong;Park, Jung-Yong;Jee, Sun-Ha;Beaty, Terri H.
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.1
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    • pp.1-4
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    • 2009
  • Objectives : Isolated cleft lip with or without cleft palate(CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell Leukemia/lymphoma 3(BCL3) gene has been suggested as a candidate gene for CL/P based on association and linkage studies in some populations. This study tests for an association between markers in BCL3 and isolated, non-syndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Methods : Forty case-parent trios were genotyped for two single nucleotide polymorphisms(SNPs) in the BCL3 gene. We performed a transmission disequilibrium test(TDT) on individual SNPs, and the FAMHAP package was used to estimate haplotype frequencies and to test for excess transmission of multi-SNP haplotypes. Results : The odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs8100239(OR=3.50, p=0.004) and rs2965169(OR=2.08, p=0.027) when parent-of-origin was not considered. Parentspecific TDT revealed that SNP rs8100239 showed excess maternal transmission. Analysis of haplotypes of rs2965169 and rs8100239 also suggested excess maternal transmission. Conclusions : BCL3 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.

Candidate Gene Analysis to Rice Bacterial Leaf Blight Resistance of Korean Races of Xoo (Xanthomonas oryzae) in Rice Genetic Resources by GWAS Analysis

  • Myung Chul Lee;Yu-Mi Choi;Myoung-Jae Shin;Hyemyeong Yoon;Sukyeung Lee;Kebede Taye Desta
    • Proceedings of the Plant Resources Society of Korea Conference
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    • 2020.08a
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    • pp.49-49
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    • 2020
  • Bacterial leaf blight (BLB), caused by X. oryzae pv. oryzae(Xoo), is one of the most destructive diseases of rice due to its high epidemic potential. Understanding BLB resistance at a genetic level is important to further improve the rice breeding that provides one of the best approaches to control BLB disease. In the present investigation, a total of 10,000 accessions of rice germplasm were tested to resistance degree of four Korean isolated races (K1, K2, K3 and K3a) of Xoo by bioassay and a diverse 268 accessions was selected to the genome-wide association study (GWAS) using high quality 34,724 SNPs to identify the associated with resistance loci. LOC_Os04g53160 of chromosome 4 was significantly associated with K1 race resistant. LOC_Os11g46230 and LOC_Os11g47150 of chromosome 11 were highly associated with K2 and K3 races as 23.7 and 27.4 of -log(P) value, but K3a resistant loci was weakly associated at LOC_Os03g55270 of chromosome 3. The results of the GWAS validate known gene of BLB resistant and identified novel loci of R genes that provide useful targets for further investigation to help the breeding system and identified gene and QTL provide valuable sources for further functional characterization.

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Association of the thyroid hormone responsive spot 14 alpha gene with growth-related traits in Korean native chicken

  • Cahyadi, Muhammad;Park, Hee-Bok;Seo, Dong Won;Jin, Shil;Choi, Nuri;Heo, Kang Nyeong;Kang, Bo Seok;Jo, Cheorun;Lee, Jun Heon
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.11
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    • pp.1755-1762
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    • 2020
  • Objective: Thyroid hormone responsive spot 14 alpha (THRSP) has been used to investigate the regulation of de novo lipogenesis because the variation of THRSP mRNA content in the tissue affects directly the ability of that tissue to synthetize lipids. Also, this gene responds to thyroid hormone stimulation and high level of carbohydrate feeding or insulin-injection. This study was carried out to investigate variations within THRSP and their effects on body and carcass weights in Korean native chicken (KNC). Methods: A total of 585 chickens which represent the five lines of KNC (Black, Gray-Brown, Red-Brown, White, and Yellow-Brown) were reared and body weight data were recorded every two weeks from hatch until 20 weeks of age. Polymerase chain reaction- restriction fragment length polymorphism, DNA chips for Agilent 2100 Bioanalyzer, and Fluidigm Genotyping Technology, were applied to genotype selected markers. A linear mixed-effect model was used to access association between these single nucleotide polymorphism (SNP) markers and growth-related traits. Results: A total of 30 polymorphisms were investigated in THRSP. Of these, nine SNPs for loci were selected to perform association analyses. Significant associations were detected between g.-49G>T SNP with body weight at 20 weeks of age (BW20), g.451T>C SNP with growth at 10 to 12 weeks of age (GR10-12), and g.1432A>C SNP with growth at 14 to 16 weeks trait (GR14-16) and body weight at 18 weeks of age (BW18). Moreover, diplotype of the THRSP gene significantly affected body weight at 12 weeks of age (BW12) and GR10-12 traits. Diplotype of ht1/ht2 was favorable for BW12 and GR10-12 traits. Conclusion: These results suggest that THRSP can be regarded as a candidate gene for growth traits in KNC.

Association of Heat Shock Protein Beta 1 (HSPB1) Gene Expression with Tenderness in Loin Muscle of Korean Cattle (Hanwoo) (한우 등심조직 내 heat shock protein beta 1 (HSPB1) 발현과 연도와의 관련성 연구)

  • Lim, Dajeong;Lee, Seung-Hwan;Cho, Yong-Min;Choi, Bong-Hwan;Choi, Han-Ha;Seong, Hwan-Hoo;Hong, Seong-Koo;Kim, Nam-Kuk
    • Journal of Life Science
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    • v.22 no.11
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    • pp.1523-1528
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    • 2012
  • In a previous proteomic study, heat shock protein beta 1 (HSPB1) was detected as differentially expressed protein in longissimus thoracis between low (grade 3) and high (grade 1++) meat quality groups by 2DE gel electrophoresis. The present study investigated an association of HSPB1 expression at the level of gene and protein with Warner-Bratzler shear force (WBS) measured in 20 Hanwoo steers. An analysis of variance (ANOVA) between expression values and WBS showed that WBS was affected by HSPB1 expression (p<0.05). The expression (at both gene and protein level) of the HSPB1 was 2 times higher in the low WBS group than that in the high WBS group (p<0.01). This result suggests that the HSPB1 gene may be a candidate gene associated with tenderness in longissimus thoracis of Korean cattle.