• 제목/요약/키워드: Polymorphism, Single Nucleotide

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Whole Genome Association Study to Detect Single Nucleotide Polymorphisms for Behavior in Sapsaree Dog (Canis familiaris)

  • Ha, J.H.;Alama, M.;Lee, D.H.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • 제28권7호
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    • pp.936-942
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    • 2015
  • The purpose of this study was to characterize genetic architecture of behavior patterns in Sapsaree dogs. The breed population (n=8,256) has been constructed since 1990 over 12 generations and managed at the Sapsaree Breeding Research Institute, Gyeongsan, Korea. Seven behavioral traits were investigated for 882 individuals. The traits were classified as a quantitative or a categorical group, and heritabilities ($h^2$) and variance components were estimated under the Animal model using ASREML 2.0 software program. In general, the $h^2$ estimates of the traits ranged between 0.00 and 0.16. Strong genetic ($r_G$) and phenotypic ($r_P$) correlations were observed between nerve stability, affability and adaptability, i.e. 0.9 to 0.94 and 0.46 to 0.68, respectively. To detect significant single nucleotide polymorphism (SNP) for the behavioral traits, a total of 134 and 60 samples were genotyped using the Illumina 22K CanineSNP20 and 170K CanineHD bead chips, respectively. Two datasets comprising 60 (Sap60) and 183 (Sap183) samples were analyzed, respectively, of which the latter was based on the SNPs that were embedded on both the 22K and 170K chips. To perform genome-wide association analysis, each SNP was considered with the residuals of each phenotype that were adjusted for sex and year of birth as fixed effects. A least squares based single marker regression analysis was followed by a stepwise regression procedure for the significant SNPs (p<0.01), to determine a best set of SNPs for each trait. A total of 41 SNPs were detected with the Sap183 samples for the behavior traits. The significant SNPs need to be verified using other samples, so as to be utilized to improve behavior traits via marker-assisted selection in the Sapsaree population.

Association between Single Nucleotide Polymorphisms of Fatty Acid Synthase and Fat Deposition in the Liver of the Overfed Goose

  • Wu, Wei;Guo, Xuan;Zhang, Lei;Hu, Dan
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권9호
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    • pp.1244-1249
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    • 2014
  • Goose fatty liver is one of the most delicious and popular foods in the world, but there is no reliable genetic marker for the early selection and breeding of geese with good liver-producing potential. In our study, one hundred and twenty-four 78-day-old Landes geese bred in Shunda Landes goose breeding farm, Jiutai, Jilin, China were selected randomly. The fatty livers were sampled each week after overfeeding during a three week period. Polymerase chain reaction-single strand conformation polymorphism and DNA sequencing were used to identify single nucleotide polymorphisms (SNPs) of fatty acid synthase (FAS), which is an important enzyme involved in the synthesis of fat under both physiological and pathological conditions. Least-squares correlation was established between these SNPs and fatty liver weight, abdominal fat weight, and intestinal fat weight of the overfed Landes geese, respectively. The results showed that fatty liver weight of geese with EF and FF genotypes (amplified by primer P1) was significantly higher than that of the EE genotype (p<0.05), and liver weight of CD and DD genotypes (amplified by primer P2) was significantly higher than that of the CC genotype (p<0.05). Different genotype combinations showed different liver weights, and from highest to lowest were ABDD, DDEF, DDFF, DDEE, ABEF, ABFF, AADD, and CDEF. Further analysis of DNA sequencing showed that there were two SNPs within the 5' promoter region the FAS gene. The geese of EF and FF genotypes carried a change of T to C, and the geese of CD and DD genotypes carried a change of A to G. The changes of the bases could potentially influence the binding of some transcription factors to this region as to regulate FAS gene. To our knowledge, this is the first report of SNPs found within the 5' promoter region of the Landes goose FAS gene, and our data will provide an insight for early selection of geese for liver production.

Synonymous Codon Usage Controls Various Molecular Aspects

  • Im, Eu-Hyun;Choi, Sun Shim
    • Genomics & Informatics
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    • 제15권4호
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    • pp.123-127
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    • 2017
  • Synonymous sites are generally considered to be functionally neutral. However, there are recent contradictory findings suggesting that synonymous alleles might have functional roles in various molecular aspects. For instance, a recent study demonstrated that synonymous single nucleotide polymorphisms have a similar effect size as nonsynonymous single nucleotide polymorphisms in human disease association studies. Researchers have recognized synonymous codon usage bias (SCUB) in the genomes of almost all species and have investigated whether SCUB is due to random nucleotide compositional bias or to natural selection of any functional exposure generated by synonymous mutations. One of the most prominent observations on the non-neutrality of synonymous codons is the correlation between SCUB and levels of gene expression, such that highly expressed genes tend to have a higher preference toward so-called optimal codons than lowly expressed genes. In relation, it is known that amounts of cognate tRNAs that bind to optimal codons are significantly higher than the amounts of cognate tRNAs that bind to non-optimal codons in genomes. In the present paper, we review various functions that synonymous codons might have other than regulating expression levels.

Estrogen Receptor-${\alpha}$ 유전자 5' 영역의 Single Nucleotide Polymorphism의 탐색과 한우와 Holstein에서 번식능력 및 산유능력과의 관계 (Single Nucleotide Polymorphism Exploring the 5'-Regions of Estrogen Receptor-${\alpha}$ Gene and Association With Reproduction Performance and Milk Yield in Hanwoo and Holstein Dairy Cattle)

  • 염규태;전향아;박해금;김영신;김현;김재환;성환후;조영무;조재현;고응규
    • Reproductive and Developmental Biology
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    • 제38권3호
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    • pp.123-127
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    • 2014
  • This study was conducted for SNPs in the 5'-regions of estrogen receptor-${\alpha}$ (ESR-${\alpha}$), and association with calving interval (CI), service per conception (SPC) and 305 days milk yield in Hanwoo and Holstein dairy cattle. The genetic improvement was incurred low reproduction performance. The objective of this study was to investigate connections between single nucleotide polymorphisms (SNP) of Estrogen receptor-${\alpha}$ (ESR-${\alpha}$) with reproduction performance (calving interval, service per conception, and 305 d milk yield) in Hanwoo and Holstein dairy cattle. Hanwoo and Holstein blood samples were collected from 183 and 124 dam of breeding farms and DNA was extracted. Primer design was based on NCBI GenBank (Accession No. AY340579). The PCR-RFLP method with Bgl I was used to genotype the cattle. The result showed two variants of the ESR-${\alpha}$ gene. The Bgl I cut the 492 bp amplification product into 322 bp and 170 bp fragments for allele G, while allele A remained uncut, resulting in two restriction fragments for homozygote G/G and three fragments for heterozygote A/G. We found two of different genotypes in these breeds, A/G and G/G. In Hanwoo, the A/G genotype frequency was 0.13, and G/G was 0.87. The CI of A/G was $382.18{\pm}10.03$ days, and G/G was $381.69{\pm}5.22$ days. The SPC of A/G was $1.62{\pm}0.16$, and G/G was $1.32{\pm}0.04$. While CI showed no significance difference, SPC exhibited significant difference (p<0.05). In Holstein cattle, the frequency of genotype A/G was 0.02 and G/G was 0.98. The 305 days milk yield of A/G was $7,253.00{\pm}936.00kg$ and of G/G was $8,747.51{\pm}204.88kg$, showing no significant difference.

사상체질의 Cholecystokinin 유전자 단일염기다형성 연구 (Genetic Polymorphism of CCK Promotor Region and Sasang Constitution)

  • 이수경;이성진
    • 대한한의학회지
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    • 제25권3호
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    • pp.105-110
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    • 2004
  • Objectives : Sasang Constitutional Medicine is based on the diversity of human beings and medically developing a variation of responses to diseases and medicines. This diversity is categorized into four concerning morphology, physiology, pathology, and pharmacology. It is supposed that sasang constitutional medicine is related the genetic diversity of individuals. Single nucleotide polymorphism is the basic tool to research genetic polymorphism as a landmark of genomes. Each constitution has different processes of pathophysiology and metabolisms to herb medications. In clinical research, the stroke incidence is significantly different by constitution. Methods : We researched whether the polymorphic expression of CCK (rs=2241997) depends on sasang constitution. The [c/t] polymorphism site of promotor region of CCK gene on 3p22-p21.3 was investigated. Results : The allele frequency of [c/t] polymorphism of CCK promotor region was different in constitution groups compared to the average allele frequency of SNP DB. The allele frequencies of Soeumin and Soyangin groups were (c:0.70/t:0.30). and (c:0.71/t:0.29), that of Taeumin group was (c:0.57/t:0.43) and of Taeyangin group was (c:1.00/t:0.00) Conclusions : It was regarded the [c/t] polymorphism of CCK promotor region is available to classify the constitution. However, it is necessary to research about CCK gene polymorphism and more constitution population groups. It is also necessary to research the more functional gene's polymorphism and sasang constitution.

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