• Title/Summary/Keyword: Gene Identification

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Genetic Hearing Loss and Gene Therapy

  • Carpena, Nathanial T;Lee, Min Young
    • Genomics & Informatics
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    • v.16 no.4
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    • pp.20.1-20.20
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    • 2018
  • Genetic hearing loss crosses almost all the categories of hearing loss which includes the following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital, progressive, and adult onset; high-frequency, low-frequency, or mixed frequency; mild or profound; and recessive, dominant, or sex-linked. Genes play a role in almost half of all cases of hearing loss but effective treatment options are very limited. Genetic hearing loss is considered to be extremely genetically heterogeneous. The advancements in genomics have been instrumental to the identification of more than 6,000 causative variants in more than 150 genes causing hearing loss. Identification of genes for hearing impairment provides an increased insight into the normal development and function of cells in the auditory system. These defective genes will ultimately be important therapeutic targets. However, the auditory system is extremely complex which requires tremendous advances in gene therapy including gene vectors, routes of administration, and therapeutic approaches. This review summarizes and discusses recent advances in elucidating the genomics of genetic hearing loss and technologies aimed at developing a gene therapy that may become a treatment option for in the near future.

Identification of Korean Native Pork Using Breed-Specific DNA Marker of KIT Gene

  • Chung, Eui-Ryong;Chung, Ku-Young
    • Food Science of Animal Resources
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    • v.30 no.3
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    • pp.403-409
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    • 2010
  • Accurate methods for the identification of closely related species or breeds in raw and processed meats must be developed in order to protect both consumers and producers from mislabeling and fraud. This paper describes the development of DNA markers for the discrimination and improvement of Korean native pig (KNP) meat. The KIT gene is related to pig coat color and is often used as a candidate marker. A 538 bp fragment comprising intron 19 of the pig KIT gene was amplified by PCR using specific primers, after which the PCR amplicons of a number of meat samples from KNP and three major improved breeds (Landrace, Duroc and Yorkshire) were sequenced in order to find a nucleotide region suitable for PCR-RFLP analysis. Sequence data showed the presence of two nucleotide substitutions, g.276G>A and g.295A>C, between KNP and the improved pig breeds. Digestion of KIT amplicons with AccII enzyme generated characteristic PCR-RFLP profiles that allowed discrimination between meats from KNP and improved pig. KNP showed three visible DNA bands of 264/249, 199, and 75 bp, whereas DNA bands of 249, 199, and 90 bp were detected in the three improved pig breeds. Therefore, the 75 bp DNA fragment was specific only to KNP, whereas the 90 bp DNA fragment was specific to the improved breeds. The breed-specific DNA markers reported here that target the KIT gene could be useful for the identification of KNP meat from improved pig meats, thus contributing to the prevention of falsified breed labeling.

A genome-wide approach to the systematic and comprehensive analysis of LIM gene family in sorghum (Sorghum bicolor L.)

  • Md. Abdur Rauf Sarkar;Salim Sarkar;Md Shohel Ul Islam;Fatema Tuz Zohra;Shaikh Mizanur Rahman
    • Genomics & Informatics
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    • v.21 no.3
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    • pp.36.1-36.19
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    • 2023
  • The LIM domain-containing proteins are dominantly found in plants and play a significant role in various biological processes such as gene transcription as well as actin cytoskeletal organization. Nevertheless, genome-wide identification as well as functional analysis of the LIM gene family have not yet been reported in the economically important plant sorghum (Sorghum bicolor L.). Therefore, we conducted an in silico identification and characterization of LIM genes in S. bicolor genome using integrated bioinformatics approaches. Based on phylogenetic tree analysis and conserved domain, we identified five LIM genes in S. bicolor (SbLIM) genome corresponding to Arabidopsis LIM (AtLIM) genes. The conserved domain, motif as well as gene structure analyses of the SbLIM gene family showed the similarity within the SbLIM and AtLIM members. The gene ontology (GO) enrichment study revealed that the candidate LIM genes are directly involved in cytoskeletal organization and various other important biological as well as molecular pathways. Some important families of regulating transcription factors such as ERF, MYB, WRKY, NAC, bZIP, C2H2, Dof, and G2-like were detected by analyzing their interaction network with identified SbLIM genes. The cis-acting regulatory elements related to predicted SbLIM genes were identified as responsive to light, hormones, stress, and other functions. The present study will provide valuable useful information about LIM genes in sorghum which would pave the way for the future study of functional pathways of candidate SbLIM genes as well as their regulatory factors in wet-lab experiments.

A Primer for Disease Gene Prioritization Using Next-Generation Sequencing Data

  • Wang, Shuoguo;Xing, Jinchuan
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.191-199
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    • 2013
  • High-throughput next-generation sequencing (NGS) technology produces a tremendous amount of raw sequence data. The challenges for researchers are to process the raw data, to map the sequences to genome, to discover variants that are different from the reference genome, and to prioritize/rank the variants for the question of interest. The recent development of many computational algorithms and programs has vastly improved the ability to translate sequence data into valuable information for disease gene identification. However, the NGS data analysis is complex and could be overwhelming for researchers who are not familiar with the process. Here, we outline the analysis pipeline and describe some of the most commonly used principles and tools for analyzing NGS data for disease gene identification.

Genetic Identification of the Kimchi Strain Using PCR-based PepN and 16S rRNA Gene Sequence (PepN과 16S rRNA Gene Sequence 및 PCR 방법을 이용한 김치 젖산균의 동정)

  • Lee, Myung-Ki;Park, Wan-Soo;Lee, Byong-H.
    • Korean Journal of Food Science and Technology
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    • v.32 no.6
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    • pp.1331-1335
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    • 2000
  • The WL6 strain isolated from Kimchi could not be made scientific name because it was identified as three species, i.e., Leuconostoc mesenternides ssp cremoris, Leu. mesenteroides ssp. dextranicum or Lactobacillus bifermentans when it was tested by API kit or Biolog system methods. The unidentifiable WL6 strain was finally reclassified as Lactobacillus bifermentans by genetic identification using two PCR-based specific sequence primer sets which were originated from homologous pepN and 16S rRNA genes.

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Identification of a cis-acting Element Region in the Promoter of Porcine Uroplakin II Gene

  • Kwon, Deug-Nam;Kim, Jin-Hoi
    • Proceedings of the KSAR Conference
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    • 2004.06a
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    • pp.194-194
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    • 2004
  • Tissue-specific expression of the desired gene product in the targrt tissue is central to the concept of bioreactor. One approach is to use a tissue-specific promoter to drive desired gene. To investigate the feasibility of tissue-specific gene expression for bladder using the porcine uroplakin(UPII) promoter and its transcriptional control the efficacy of this promoter as well as well as fragments in regulating gene expression were cell lines using DNA transfection. (omitted)

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LC-MS/MS Analysis of Surface Layer Proteins as a Useful Method for the Identification of Lactobacilli from the Lactobacillus acidophilus Group

  • Podlesny, Marcin;Jarocki, Piotr;Komon, Elwira;Glibowska, Agnieszka;Targonski, Zdzislaw
    • Journal of Microbiology and Biotechnology
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    • v.21 no.4
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    • pp.421-429
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    • 2011
  • For precise identification of a Lactobacillus K1 isolate, LC-MS/MS analysis of the putative surface layer protein was performed. The results obtained from LTQ-FT-ICR mass spectrometry confirmed that the analyzed protein spot is the surface layer protein originating from Lb. helveticus species. Moreover, the identified protein has the highest similarity with the surface layer protein from Lb. helveticus R0052. To evaluate the proteomic study, multilocus sequence analysis of selected housekeeping gene sequences was performed. Combination of 16S rRNA sequencing with partial sequences for the genes encoding the RNA polymerase alpha subunit (rpoA), phenylalanyl-tRNA synthase alpha subunit (pheS), translational elongation factor Tu (tuf), and Hsp60 chaperonins (groEL) also allowed to classify the analyzed isolate as Lb. helveticus. Further classification at the strain level was achieved by sequencing of the slp gene. This gene showed 99.8% identity with the corresponding slp gene of Lb. helveticus R0052, which is in good agreement with data obtained by nano-HPLC coupled to an LTQ-FT-ICR mass spectrometer. Finally, LC-MS/MS analysis of surface layer proteins extracted from three other Lactobacillus strains proved that the proposed method is the appropriate molecular tool for the identification of S-layer-possessing lactobacilli at the species and even strain levels.

Identification of Mycobacteria by Comparative Sequence Apalysis and PCR-Restriction Fragment Length Polymorphism Analysis (염기서열과 PCR-Restriction Fragment Length Polymorphism 분석에 의한 Mycobacteria 동정)

  • Kook, Yoon-Hoh
    • The Journal of the Korean Society for Microbiology
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    • v.34 no.6
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    • pp.561-571
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    • 1999
  • Diagnosis of mycobacterial infection is dependent upon the isolation and identification of causative agents. The procedures involved are time consuming and technically demanding. To improve the laborious identification process mycobacterial systematics supported by gene analysis is feasible, being particularly useful for slowly growing or uncultivable mycobacteria. To complement genetic analysis for the differentiation and identification of mycobacterial species, an alternative marker gene, rpoB encoding the ${\beta}$ subunit of RNA polymerase, was investigated. rpoB DNAs (342 bp) were amplified from 52 reference strains of mycobacteria including Mycobacterium tuberculosis H37Rv (ATCC 27294) and clinical isolates by the PCR. The nucleotide sequences were directly determined (306 bp) and aligned using the multiple alignment algorithm in the MegAlign package (DNASTAR) and MEGA program. A phylogenetic tree was constructed with a neighborhood joining method. Comparative sequence analysis of rpoB DNA provided the basis for species differentiation. By being grouped into species-specific clusters with low sequence divergence among strains belonging to same species, all the clinical isolates could be easily identified. Furthermore RFLP analysis enabled rapid identification of clinical isolates.

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