Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.48 (transcriptase)
 9,479 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Using a combination of multiplex amplifiable probe hybridization and semiquantitative fluorescence in situ hybridization (SQ-FISH), we analyzed DNA copy number variation across chromosome band 8p23.1, a region that is frequently involved in chromosomal rearrangements. We show that a cluster of at least three antimicrobial beta-defensin genes (DEFB4, DEFB103, and DEFB104) at 8p23.1 are polymorphic in copy number, with a repeat unit >/=240 kb long. Individuals have 2-12 copies of this repeat per diploid genome. By segregation, microsatellite dosage, and SQ-FISH chromosomal signal intensity ratio analyses, we deduce that individual chromosomes can have one to eight copies of this repeat unit. Chromosomes with seven or eight copies of this repeat unit are identifiable by cytogenetic analysis as a previously described 8p23.1 euchromatic variant. Analysis of RNA from different individuals by semiquantitative reverse-transcriptase polymerase chain reaction shows a significant correlation between genomic copy number of DEFB4 and levels of its messenger RNA (mRNA) transcript. The peptides encoded by these genes are potent antimicrobial agents, especially effective against clinically important pathogens, such as Pseudomonas aeruginosa and Staphylococcus aureus, and DEFB4 has been shown to act as a cytokine linking the innate and adaptive immune responses. Therefore, a copy number polymorphism involving these genes, which is reflected in mRNA expression levels, is likely to have important consequences for immune system function.
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PMID:Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. 1291 16

A novel gene was identified from a cDNA library of the male accessory glands of Haemaphysalis longicornis. The full-length cDNA of the gene was 349bp, encoding a 79-amino acid defensin-like protein and therefore the protein was named HlMS-defensin. Reverse transcriptase-PCR results suggested that this gene was expressed exclusively in male ticks. The tissue expression pattern and the mRNA levels of HlMS-defensin during blood feeding were determined using real-time PCR. HlMS-defensin was expressed predominately in the male accessory gland and was up-regulated during blood feeding. The antimicrobial activity of a synthetic peptide based on the predicted mature portion of HlMS-defensin was examined against a variety of Gram-positive and Gram-negative bacteria and fungi. It appears that ticks use the antimicrobial peptide to protect their reproductive tracts from microbial infections. The protective role of HlMS-defensin during mating was also discussed.
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PMID:Cloning and characterization of a male-specific defensin-like antimicrobial peptide from the tick Haemaphysalis longicornis. 2203 49