• Title/Summary/Keyword: Synonymous substitution

Search Result 17, Processing Time 0.018 seconds

Genetic Diversity of a Natural Population of Apple stem pitting virus Isolated from Apple in Korea

  • Yoon, Ju Yeon;Joa, Jae Ho;Choi, Kyung San;Do, Ki Seck;Lim, Han Cheol;Chung, Bong Nam
    • The Plant Pathology Journal
    • /
    • v.30 no.2
    • /
    • pp.195-199
    • /
    • 2014
  • Apple stem pitting virus (ASPV), of the Foveavirus genus in the family Betaflexiviridae, is one of the most common viruses of apple and pear trees. To examine variability of the coat protein (CP) gene from ASPV, eight isolates originating from 251 apple trees, which were collected from 22 apple orchards located in intensive apple growing areas of the North Gyeongsang and North Jeolla Provinces in Korea, were sequenced and compared. The nucleotide sequence identity of the CP gene of eight ASPV isolates ranged from 77.0 to 97.0%, while the amino acid sequence identity ranged from 87.7 to 98.5%. The N-terminal region of the viral CP gene was highly variable, whereas the C-terminal region was conserved. Genetic algorithm recombination detection (GARD) and single breakpoint recombination (SBP) analyses identified base substitutions between eight ASPV isolates at positions 54 and 57 and position 771, respectively. GABranch analysis was used to determine whether the eight isolates evolved due to positive selection. All values in the GABranch analysis showed a ratio of substitution rates at non-synonymous and synonymous sites (dNS/dS) below 1, suggestive of strong negative selection forces during ASPV CP history. Although negative selection dominated CP evolution in the eight ASPV isolates, SLAC and FEL tests identified four possible positive selection sites at codons 10, 22, 102, and 158. This is the first study of the ASPV genome in Korea.

Sequence characterization and polymorphism of melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia

  • Ganbold, Onolragchaa;Manjula, Prabuddha;Lee, Seung-Hwan;Paek, Woon Kee;Seo, Dongwon;Munkhbayar, Munkhbaatar;Lee, Jun Heon
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.32 no.7
    • /
    • pp.939-948
    • /
    • 2019
  • Objective: Extension and Agouti loci play a key role for proportions of eumelanin and pheomelanin in determining coat color in several species, including goat. Mongolian goats exhibit diverse types of coat color phenotypes. In this study, investigation of the melanocortin 1 receptor (MC1R) coding region in different coat colors in Mongolian goats was performed to ascertain the presence of the extension allele. Methods: A total of 105 goat samples representing three goat breeds were collected for this study from middle Mongolia. A 938 base pair (bp) long coding region of the MC1R gene was sequenced for three different breeds with different coat colors (Gobi Gurwan Saikhan: complete black, Zalaa Jinstiin Tsagaan: complete white, Mongolian native goat: admixture of different of coat colors). The genotypes of these goats were obtained from analyzing and comparing the sequencing results. Results: A total of seven haplotypes defined by five substitution were identified. The five single nucleotide polymorphisms included two synonymous mutations (c.183C>T and c.489G>A) and three missense (non-synonymous) mutations (c.676A>G, c.748T>G, and c.770T>A). Comparison of genotypes frequencies of two common missense mutions using chi-sqaure ($x^2$) test revealed significant differences between coat color groups (p<0.001). A logistic regression analysis additionally suggested highly significant association between genotypes and variation of black versus white uniform combination. Alternatively, most investigated goats (60.4%) belonged to H2 (TGAGT) haplotype. Conclusion: According to the findings obtained in this study on the investigated coat colors, mutations in MC1R gene may have the crucial role for determining eumelanin and pheomelanin phenotypes. Due to the complication of coat color phenotype, more detailed investigation needed.

Identification of SNPs in Highly Variable Lysozyme Gene in Korean Native Chicken Populations (한국 재래닭의 고변이 Lysozyme 유전자의 SNP 확인)

  • Hoque, M.R.;Kang, B.S.;Lim, H.K.;Choi, K.D.;Lee, J.H.
    • Korean Journal of Agricultural Science
    • /
    • v.37 no.3
    • /
    • pp.399-404
    • /
    • 2010
  • Single nucleotide polymorphisms (SNPs) in chicken lysozyme (LYZ) gene were investigated in this study. The identification of SNPs in both exon and intron in LYZ gene has led to understanding of evolution for the domestic chicken populations. A total of 24 samples from two Korean native commercial chicken populations (CCPs) were used for the initial identification of SNPs by mixing three DNA samples for sequencing experiments. By comparing with red jungle fowl (RJF), two commercial chicken populations have 18 common polymorphisms. Between two commercial chicken populations, 15 polymorphisms were identified. Of the 33 polymorphisms identified, two indels (21 and 4 bp) were found. Whereas, only one polymorphism in exon 2 at the bp position 1426 was a non-synonymous substitution (p.Ala49Val), indicating the amino acid changes. The identified non-synonymous substitution (p.Ala49Val) is located close to the catalytic sites of the enzyme, which might affect its activity. In our investigation, the polymorphisms in LYZ gene can provide broad ideas for the variation of Korean native chicken populations from the ancestor of chicken breeds as well as the some biological functions of the LYZ gene.

Polymorphisms of SLC22A9 (hOAT7) in Korean Females with Osteoporosis

  • Ahn, Seong Kyu;Suh, Chang Kook;Cha, Seok Ho
    • The Korean Journal of Physiology and Pharmacology
    • /
    • v.19 no.4
    • /
    • pp.319-325
    • /
    • 2015
  • Among solute carrier proteins, the organic anion transporters (OATs) play an important role for the elimination or reabsorption of endogenous and exogenous negatively charged anionic compounds. Among OATs, SLC22A9 (hOAT7) transports estrone sulfate with high affinity. The net decrease of estrogen, especially in post-menopausal women induces rapid bone loss. The present study was performed to search the SNP within exon regions of SLC22A9 in Korean females with osteoporosis. Fifty healthy controls and 50 osteoporosis patients were screened for the genetic polymorphism in the coding region of SLC22A9 using GC-clamped PCR and denaturing gradient gel electrophoresis (DGGE). Six SNPs were found on the SLC22A9 gene from Korean women with/without osteoporosis. The SNPs were located as follows: two SNPs in the osteoporosis group (A645G and T1277C), three SNPs in the control group (G1449T, C1467T and C1487T) and one SNP in both the osteoporosis and control groups (G767A). The G767A, T1277C and C1487T SNPs result in an amino acid substitution, from synonymous vs nonsynonymous substitution arginine to glutamine (R256Q), phenylalanine to serine (F426S) and proline to leucine (P496L), respectively. The Km values and Vmax of the wild type, R256Q, P496L and F426S were 8.84, 8.87, 9.83 and $12.74{\mu}M$, and 1.97, 1.96, 2.06 and 1.55 pmol/oocyte/h, respectively. The present study demonstrates that the SLC22A9 variant F426S is causing inter-individual variation that is leading to the differences in transport of the steroid sulfate conjugate (estrone sulfate) and, therefore this could be used as a marker for certain disease including osteoporosis.

Co-occurrence of Matsumuraeses falcana and M. phaseoli (Lepidoptera: Tortricidae) in Soybean Fields, and Polymorphism of Cytochrome c Oxidase Subunit 1 Gene Nucleotide (콩 포장에서 어리팥나방과 팥나방(나비목: 잎말이나방과)의 동시 발생과 시토크롬 c 산화효소 1 유전자 염기서열의 다형성)

  • Jin Kyo, Jung;Eun Young, Kim;Taeman, Han
    • Korean journal of applied entomology
    • /
    • v.61 no.4
    • /
    • pp.641-649
    • /
    • 2022
  • Leaf-rolling moths were collected from soybean fields and identified as Matsumuraeses falcana and Matsumuraeses phaseoli by comparison with laboratory-reared species based on the nucleotide sequence (658 bp) of the mitochondrial cytochrome c oxidase 1 subunit gene (COX1). Ten haplotypes with 0.15-0.46% genetic distance from each other in COX1 were found in 47 samples of M. falcana, in which haplotype A was dominant (approximately 70%). Only one type of COX1 was found in 30 samples of M. phaseoli, and its sequence showed 4.11-4.61% genetic distance from those of M. falcana. Amino acid sequences translated from COX1 were identical in all samples of both species, and they showed synonymous substitutions. Larvae of both species caused damage to soybean leaves and pods and co-occurred simultaneously in the field. The average density of M. falcana was 1.5 times higher than that of M. phaseoli. The results clearly indicate that soybean was the host plant for both species. In addition, Elodia flavipalpis (Diptera: Tachinidae) was found to be a larval parasitoid of Matsumuraeses sp. through identification of the COX1 gene.

Cloning and Expression of FSHb Gene and the Effect of $FSH{\beta}$ on the mRNA Levels of FSHR in the Local Chicken

  • Zhao, L.H.;Chen, J.L.;Xu, H.;Liu, J.W.;Xu, Ri Fu
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.23 no.3
    • /
    • pp.292-301
    • /
    • 2010
  • Follicle-stimulating hormone (FSH) is a pituitary glycoprotein hormone that is encoded by separate alpha- and betasubunit genes. It plays a key role in stimulating and regulating ovarian follicular development and egg production in chicken. FSH signal transduction is mediated by the FSH receptor (FSHR) that exclusively interacts with the beta-subunit of FSH, but characterization of prokaryotic expression of the FSHb gene and its effect on the expression of the FSHR gene in local chickens have received very little attention. In the current study, the cDNA fragment of the FSHb gene from Dagu chicken was amplified using reverse transcription polymerase chain reaction (RT-PCR), and inserted into the pET-28a (+) vector to construct the pET-28a-FSHb plasmid. After expression of the plasmid in E. coli BL21 (DE3) under inducing conditions, the recombination protein, $FSH{\beta}$ subunit, was purified and injected into the experimental hens and the effect on the mRNA expression levels of the FSHR gene was investigated. Sequence comparison showed that the coding region of the FSHb gene in the local chicken shared 99%-100% homology to published nucleotides in chickens; only one synonymous nucleotide substitution was detected in the region. The encoded amino acids were completely identical with the reported sequence, which confirmed that the sequences of the chicken FSHb gene and the peptides of the $FSH{\beta}$ subunit are highly conserved. This may be due to the critical role of the normal function of the FSHb gene in hormonal specificity and regulation of reproduction. The results of gene expression revealed that a recombinant protein with a molecular weight of about 19 kDa was efficiently expressed and it was identified by Western blotting analysis. After administration of the purified $FSH{\beta}$ protein, significantly higher expression levels were demonstrated in uterus, ovary and oviduct samples (p<0.05). These observations suggested that the expressed $FSH{\beta}$ protein possesses biological activity, and has a potential role in regulation of reproductive physiology in chickens.

Novel Polymorphisms of Adrenergic, Alpha-1B-, Receptor and Peroxisome Proliferator-activated Receptor Gamma, Coactivator 1 Beta Genes and Their Association with Egg Production Traits in Local Chinese Dagu Hens

  • Mu, F.;Jing, Y.;Qin, N.;Zhu, H.Y.;Liu, D.H.;Yuan, S.G.;Xu, R.F.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.29 no.9
    • /
    • pp.1256-1264
    • /
    • 2016
  • Adrenergic, alpha-1B-, receptor (ADRA1B) and peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B) genes are involved in regulation of hen ovarian development. In this study, these two genes were investigated as possible molecular markers associated with hen-housed egg production, egg weight (EW) and body weight in Chinese Dagu hens. Samples were analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, followed by sequencing analysis. Two novel single nucleotide polymorphisms (SNPs) were identified within the candidate genes. Among them, an A/G transition at base position 1915 in exon 2 of ADRA1B gene and a T/C mutation at base position 6146 in the 3'- untranslated region (UTR) of PPARGC1B gene were found to be polymorphic and named SNP A1915G and T6146C, respectively. The SNP A1915G (ADRA1B) leads to a non-synonymous substitution (aspartic acid 489-to-glycine). The 360 birds from the Dagu population were divided into genotypes AA and AG, allele A was found to be present at a higher frequency. Furthermore, the AG genotype correlated with significantly higher hen-housed egg production (HHEP) at 30, 43, 57, and 66 wks of age and with a higher EW at 30 and 43 wks (p<0.05). For the SNP T6146C (PPARGC1B), the hens were typed into TT and TC genotypes, with the T allele shown to be dominant. The TC genotype was also markedly correlated with higher HHEP at 57 and 66 wks of age and EW at 30 and 43 wks (p<0.05). Moreover, four haplotypes were reconstructed based on these two SNPs, with the AGTC haplotype found to be associated with the highest HHEP at 30 to 66 wks of age and with higher EW at 30 and 43 wks (p<0.05). Collectively, the two SNPs identified in this study might be used as potential genetic molecular markers favorable in the improvement of egg productivity in chicken breeding.