• 제목/요약/키워드: Genes

검색결과 11,727건 처리시간 0.046초

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations

  • Koohiyan, Mahbobeh;Azadegan-Dehkordi, Fatemeh;Koohian, Farideh;Hashemzadeh-Chaleshtori, Morteza
    • Journal of Audiology & Otology
    • /
    • 제23권4호
    • /
    • pp.175-180
    • /
    • 2019
  • Diagnosis of pre-lingual hearing loss (HL) is difficult owing to the high number of genes responsible. The most frequent cause of HL is DFNB1 due to mutations in the GJB2 gene. It represents up to 40% of HL cases in some populations. In Iran, it has previously been shown that DFNB1 accounts for 16-18% of cases but varies among different ethnic groups. Here, we reviewed results from our three previous publications and data from other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in northern Iran. In total, 903 unrelated families from six different provinces, viz., Gilan, Mazandaran, Golestan, Ghazvin, Semnan, and Tehran, were included and analyzed for the type and prevalence of GJB2 mutations. A total of 23 different genetic variants were detected from which 18 GJB2 mutations were identified. GJB2 mutations were 20.7% in the studied northern provinces, which was significantly higher than that reported in southern populations of Iran. Moreover, a gradient in the frequency of GJB2 mutations from north to south Iran was observed. c.35delG was the most common mutation, accounting for 58.4% of the cases studied. This study suggests that c.35delG mutation in GJB2 is the most important cause of HL in northern Iran.

국내 Thoroughbred경주마 생산목장에서 Equine Herpesvirus에 의한 유산폭풍의 발생기간 (The Period of Abortion Storm Caused by Equine Herpesviruses in Thoroughbred Breeding Farms in South Korea)

  • 양재혁;박용수;노환국;손원근;이두식;황규계;임윤규
    • 현장농수산연구지
    • /
    • 제16권1호
    • /
    • pp.105-113
    • /
    • 2014
  • Equine herpesvirus type 1 (EHV-1) is an economically important pathogen of horses and exerts its major impact by inducing abortion storms and sporadic abortions in pregnant mares, early neonatal death in foals, and respiratory disease in young horses. Although equine herpesvirus type 4 (EHV-4) rarely causes clinical manifestations of disease in organs other than the respiratory track, isolated cases of myeloencephalopathy and sporadic abortions have been reported in EHV-4 infections. Here, we report an abortion storm in Thoroughbred breeding farms in Jeju island, South Korea. It occurred for 16 days from first abortion to last one. There were no clinical signs prior to abortion and stillbirth in broodmares. Two PCR-primers were made on glycoprotein B gene of EHV-1 and EHV-4 to amplify specific common regions of the viruses. We could detect the virus specific genes in aborted samples by PCR, and concluded that the cause of abortion storm was EHV infection. This report describes the first abortion storm case caused by EHV in Thoroughbred breeding farms in South Korea.

The Effect of Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) on The Expression of IL-1 System mRNA in Mouse Embryos

  • Kim, D. H.;S. S. Ko;Lee, H. C.;Lee, H. H.;Kim, S. S.;Lee, H. J.;B. C. Yang;Park, S. B.;W. K. Chang
    • 한국동물번식학회:학술대회논문집
    • /
    • 한국동물번식학회 2003년도 학술발표대회 발표논문초록집
    • /
    • pp.52-52
    • /
    • 2003
  • Granulocyte-macrophage colony stimulating factor (GM-CSF) is synthesized in the female reproductive tract and has been shown to play an important role in human and murine embryo development and implantation. However, the mechanism of GM-CSF on the embryo development is unknown. Recent studies suggested that GM-CSF may be increase the expression of implantation relented genes, such as interleukin-1 (IL-1) system. Our aim of this study was to compare the interleukin-1$\alpha$ (IL-1$\alpha$), interleukin-1$\beta$ (IL-1$\beta$) and interleukin-1 receptor antagonist (IL-lra) mRNA between the GM-CSF supplemented group and control group in mouse embryos. Mouse 2-cell embryos were cultured in P-1 medium supplemented with or without mouse GM-CSF (10 ng/ml). The number of total and apoptotic cell in blastocyst were assessed by TUNEL. And then, the expression of IL-1$\alpha$, IL-1$\beta$ and IL-1ra mRNA in blastocyst were examined by RT-PCR.

  • PDF

The Attenuation Mechanism and Live Vaccine Potential of a Low-Virulence Edwardsiella ictaluri Strain Obtained by Rifampicin Passaging Culture

  • Shuyi Wang;Jingwen Hao;Jicheng Yang;Qianqian Zhang;Aihua Li
    • Journal of Microbiology and Biotechnology
    • /
    • 제33권2호
    • /
    • pp.167-179
    • /
    • 2023
  • The rifampicin-resistant strain E9-302 of Edwardsiella ictaluri strain 669 (WT) was generated by continuous passage on BHI agar plates containing increasing concentrations of rifampicin. E9-302 was attenuated significantly by 119 times to zebrafish Danio rerio compared to WT in terms of the 50% lethal dose (LD50). Zebrafish vaccinated with E9-302 via intraperitoneal (IP) injection at a dose of 1 × 103 CFU/fish had relative percentage survival (RPS) rates of 85.7% when challenged with wild-type E. ictaluri via IP 14 days post-vaccination (dpv). After 14 days of primary vaccination with E9-302 via immersion (IM) at a dose of 4 × 107 CFU/ml, a booster IM vaccination with E9-302 at a dose of 2 × 107 CFU/ml exhibited 65.2% RPS against challenge with wild-type E. ictaluri via IP 7 days later. These results indicated that the rifampicin-resistant attenuated strain E9-302 had potential as a live vaccine against E. ictaluri infection. A previously unreported amino acid site change at position 142 of the RNA polymerase (RNAP) β subunit encoded by the gene rpoB associated with rifampicin resistance was identified. Analysis of the whole-genome sequencing results revealed multiple missense mutations in the virulence-related genes esrB and sspH2 in E9-302 compared with WT, and a 189 bp mismatch in one gene, whose coding product was highly homologous to glycosyltransferase family 39 protein. This study preliminarily explored the molecular mechanism underlying the virulence attenuation of rifampicin-resistant strain E9-302 and provided a new target for the subsequent study of the pathogenic mechanism of E. ictaluri.

Phylogeny, Morphology and Pathogenicity of Biscogniauxia mediterranea Causing Charcoal Canker Disease on Quercus brantii in Southern Iran

  • Samaneh, Ahmadi;Fariba, Ghaderi;Habiballah, Charehgani;Soraya, Karami;Dariush, Safaee
    • 식물병연구
    • /
    • 제28권4호
    • /
    • pp.209-220
    • /
    • 2022
  • Charcoal canker of oak, which has recently increased in southern Iran, could pose a serious threat to the entire forest ecosystem in the near future. In addition, it seems that climate change and its consequences, such as drought in the southern regions of Iran, have exacerbated this phenomenon. Consequently, the objective of this study was to identify the fungal pathogens that could cause charcoal canker disease in the oak forests of South Zagros. It was also sought to find associations between changes in the occurrence/exacerbation of charcoal canker disease under non and intense drought stress in non-inoculated or inoculated Quercus brantii seedlings. In total, 120 isolates were obtained from eight oak forests located in the Zagros Mountains of Southern Iran, Kohgiluyeh & Boyer-Ahmad and Fars provinces, which were classified as Biscogniauxia mediterranea based on morphological assessment. Subsequently, molecular assay confirmed the result by phylogenetic inference of internal transcribed spacer-rDNA regions, α-actin, and β-tubulin genes. The results of the pathogenicity test showed that the response of isolates of B. mediterranea (Iran-G1 and Iran-M70) was varied in different environments for the measured necrotic lesion length. In comparison with the control moisture treatments (non-stress), the necrotic lesion length in inoculated treatments increased under intense drought stress. In general, inoculated oak seedlings' exposure to water-deficient stress by the pathogen of B. mediterranea could affect the spread/severity of the charcoal canker disease.

작물의 유전자 재조합을 위한 세포주의 개발 연구 (Development of Cell Lines for Application of Recombinant DNA Techniques in Crops)

  • 채영암;최규환
    • 한국작물학회지
    • /
    • 제30권2호
    • /
    • pp.195-200
    • /
    • 1985
  • 유전자 재조합 기술을 통하여 유용한 유전자를 세포내로 이전시키거나 세포 수준에서 육종선발을 하기 위한 기술로서 원형질체를 나출, 배양하고 재분화시키는 과정과 세포주를 확보하기 위하여 실험한 결과를 요약하면 다음과 같다. 1. 원형질체 나출을 위한 잎의 표면 소독은 sodium hypochloride 2 %에서 3분간 침지하는 것이 소독율이 높았다. 2. 원형질체 나출 최적 효소농도는 cellulase 2 %와 macerozyme 0.5 %의 혼용이다. 3. 원형질체의 배양밀도는 1.4 - 2.0 $\times$ $10^4$/$m\ell$에서 치상효율이 높았다. 4. 배양배지는 배지 1에서 제일 양호하였다. 5. 배양 2 일 후에는 세포격이 완전히 재생되고 배양 4 일 후에는 세포분열이 시작되었다. 배양 2주 후에는 세포 덩어리를 형성하고 3주 후에는 육안으로 볼 수 있는 colony를 형성하였다. 6. Shoot 분화 배지에 치상한 calli는 치상후 25 일에 bud가 나타나기 시작하였다. Shoot분화에는 BA 1 -2 mg/$\ell$로 첨가한 경우 shoot분화율이 높았다. 7. 발근은 홀몬이 첨가되지 않은 MS 배지에서 양호하였고 현재 100여 개의 세포주에서 종자를 수확하였으며 차후 세포주의 특성과 변이성등을 조사할 계획이다.

  • PDF

SAMD13 as a Novel Prognostic Biomarker and its Correlation with Infiltrating Immune Cells in Hepatocellular Carcinoma

  • Hye-Ran Kim;Choong Won Seo;Jae-Ho Lee;Sang Jun Han;Jongwan Kim
    • 대한의생명과학회지
    • /
    • 제28권4호
    • /
    • pp.260-275
    • /
    • 2022
  • Sterile alpha motif (SAM) domains bind to various proteins, lipids, and RNAs. However, these domains have not yet been analyzed as prognostic biomarkers. In this study, SAM domain containing 13 (SAMD13), a member of the SAM domain, was evaluated to identify a novel prognostic biomarker in various human cancers, including hepatocellular carcinoma (HCC). Moreover, we identified a correlation between SAMD13 expression and immune cell infiltration in HCC. We performed bioinformatics analysis using online databases, such as Tumor Immune Estimation Resource, UALCAN, Kaplan-Meier plotter, LinkedOmics, and Gene Expression Profiling Interactive Analysis2. SAMD13 expression in HCC samples was significantly higher than that in normal liver tissue; additionally, SAMD13 was higher in primary tumors, various stages of cancer and grades of tumor, and status of nodal metastasis. Higher SAMD13 expression was also associated with poorer prognosis. SAMD13 expression positively correlated with CD8+ T cells, CD4+ T cells, B cells, neutrophils, macrophages, and dendritic cells. In the analysis of SAMD13 co-expression networks, positively related genes of SAMD13 were associated with a high hazard ratio in different types of cancer, including HCC. In biological function of SAMD13, SAMD13 mainly include spliceosome, ribosome biogenesis in eukaryote, ribosome, etc. These results suggest that SAMD13 may serve as a novel prognostic biomarker for HCC diagnosis and provide novel insights into tumor immunology in HCC.

Therapeutic effects of selective p300 histone acetyl-transferase inhibitor on liver fibrosis

  • Hyunsik Kim;Soo-Yeon Park;Soo Yeon Lee;Jae-Hwan Kwon;Seunghee Byun;Mi Jeong Kim;Sungryul Yu;Jung-Yoon Yoo;Ho-Geun Yoon
    • BMB Reports
    • /
    • 제56권2호
    • /
    • pp.114-119
    • /
    • 2023
  • Liver fibrosis is caused by chronic liver damage and results in the aberrant accumulation of extracellular matrix during disease progression. Despite the identification of the HAT enzyme p300 as a major factor for liver fibrosis, the development of therapeutic agents targeting the regulation of p300 has not been reported. We validated a novel p300 inhibitor (A6) on the improvement of liver fibrosis using two mouse models, mice on a choline-deficient high-fat diet and thioacetamide-treated mice. We demonstrated that pathological hall-marks of liver fibrosis were significantly diminished by A6 treatment through Masson's trichrome and Sirius red staining on liver tissue and found that A6 treatment reduced the expression of matricellular protein genes. We further showed that A6 treatment improved liver fibrosis by reducing the stability of p300 protein via disruption of p300 binding to AKT. Our findings suggest that targeting p300 through the specific inhibitor A6 has potential as a major therapeutic avenue for treating liver fibrosis.

KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-β and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line

  • Jaesung Choi;Jee-Hye Choi;Ho Woon Lee;Dongbeom Seo;Gavaachimed Lkhagvasuren;Jung-Woong Kim;Sang-Beom Seo;Kangseok Lee;Kwang-Ho Lee
    • BMB Reports
    • /
    • 제56권2호
    • /
    • pp.120-125
    • /
    • 2023
  • Karyopherin-α3 (KPNA3), a karyopherin-α isoform, is intimately associated with metastatic progression via epithelial-mesenchymal transition (EMT). However, the molecular mechanism underlying how KPNA3 acts as an EMT inducer remains to be elucidated. In this report, we identified that KPNA3 was significantly upregulated in cancer cells, particularly in triple-negative breast cancer, and its knockdown resulted in the suppression of cell proliferation and metastasis. The comprehensive transcriptome analysis from KPNA3 knockdown cells indicated that KPNA3 is involved in the regulation of numerous EMT-related genes, including the downregulation of GATA3 and E-cadherin and the up-regulation of HAS2. Moreover, it was found that KPNA3 EMT-mediated metastasis can be achieved by TGF-β or AKT signaling pathways; this suggests that the novel independent signaling pathways KPNA3-TGF-β-GATA3-HAS2/E-cadherin and KPNA3-AKT-HAS2/E-cadherin are involved in the EMT-mediated progress of TNBC MDA-MB-231 cells. These findings provide new insights into the divergent EMT inducibility of KPNA3 according to cell and cancer type.

Genetic diversity of Plasmodium falciparum erythrocyte membrane protein 1 in field isolates from central Myanmar

  • Sylvatrie-Danne Dinzouna-Boutamba;Sanghyun Lee;Zin Moon;Dong-Il Chung;Yeonchul Hong;Moe Kyaw Myint;Haung Naw;Byoung-Kuk Na;Youn-Kyoung Goo
    • Parasites, Hosts and Diseases
    • /
    • 제61권1호
    • /
    • pp.24-32
    • /
    • 2023
  • Plasmodium falciparum erythrocyte membrane protein 1 (PfEMP1), encoded by the polymorphic var multigene family, is a highly polymorphic antigen that plays a crucial role in the pathology of malaria. The contribution of the genetic diversity of var toward the immune escape of P. falciparum has not yet been fully elucidated. This study aimed to characterize the diversity of var repertoires by screening P. falciparum Duffy-binding-like α domain (PfDBLα) among field isolates from central Myanmar. Genetic analysis revealed that the D-H segments of var in Myanmar populations have an extensive polymorphic repertoire, with high numbers of unique sequence types in each individual. However, var genes from the global population, including Myanmar, shared close genetic lineages regardless of their geographic origins, indicating that they have not undergone rapid evolutionary changes.