Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.22.36 (caspase-1)
 6,285 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Interleukin 18 (IL-18), a recently described cytokine, plays an important role in the cell-mediated immune response, in particular through its ability to induce the production of interferon (IFN)-gamma. We cloned pig IL-18 cDNA from the intestinal epithelial cell line IPI-2I using a reverse transcriptase-polymerase chain reaction method with primers derived from the human IL-18 sequence. The amino acid sequence deduced from pig IL-18 cDNA encodes a 192 amino-acid polypeptide that exhibits 92, 90, 81, and 71% similarity to IL-18 from horse, dog, human, and rodents (mouse and rat), respectively. Structural comparison of the IL-18 protein with IL-1alpha and IL-1beta showed that IL-18 shares several characteristics with the IL-1 cytokine family: the IL-1 signature-like sequence, a potential caspase-1 (ICE) cleavage site, and the presence of 12 predicted beta strands. Fluorescence in situ hybridization was used to localize the IL-18 gene on the short arm (p13) of pig chromosome 9. Analysis of IL-18 expression in different organs of piglets demonstrated that IL-18 mRNA is weakly expressed in the kidney and the lung. By contrast, we observed highly constitutive expression of IL-18 mRNA in the spleen, mesenteric lymph nodes, and the intestine, particularly in the small intestine, indicating a potential role for IL-18 as a first line of host defense in the intestinal mucosa.
 ...
PMID:Cloning, chromosomal location, and tissue expression of the gene for pig interleukin-18. 1080 49

The Borrelia burgdorferi genome exhibits redundancy, with many plasmid-carried genes belonging to paralogous gene families. It has been suggested that certain paralogs may be necessary in various environments and that they are differentially expressed in response to different conditions. The chromosomally located p13 gene which codes for a channel-forming protein belongs to paralog family 48, which consists of eight additional genes. Of the paralogous genes from family 48, the BBA01 gene has the highest homology to p13. Herein, we have inactivated the BBA01 gene in B. burgdorferi strain B31-A. This mutant shows no apparent phenotypic difference compared to the wild type. However, analysis of BBA01 in a C-terminal protease A (CtpA)-deficient background revealed that like P13, BBA01 is posttranslationally processed at its C terminus. Elevated BBA01 expression was obtained in strains with the BBA01 gene introduced on the shuttle vector compared to the wild-type strain. We could further demonstrate that BBA01 is a channel-forming protein with properties surprisingly similar to those of P13. The single-channel conductance, of about 3.5 nS, formed by BBA01 is comparable to that of P13, which together with the high degree of sequence similarity suggests that the two proteins may have similar and interchangeable functions. This is further strengthened by the up-regulation of the BBA01 protein and its possible localization in the outer membrane in a p13 knockout strain, thus suggesting that P13 can be replaced by BBA01.
 ...
PMID:The BBA01 protein, a member of paralog family 48 from Borrelia burgdorferi, is potentially interchangeable with the channel-forming protein P13. 1674 Sep 27

Interchromosomal effect is a controversial phenomenon postulating that during gametogenesis of translocation carriers, aside from the unbalanced segregation of chromosomes involved in the translocation, other, structurally normal chromosomes might also be affected and segregated abnormally. Here, we present a balanced reciprocal translocation carrier t(15;20)(q11;p13), and his son, bearing a different translocation of chromosome 15, t(15;Y)(q11;q12). To further elucidate the so-far-controversial interchromosomal effect phenomenon, published original articles and case reports about interchromosomal effect were reviewed. The father was a carrier of t(15;20)(q11;p13). His wife's karyotype was normal. During a pregnancy occurred without any preceding procedure, amniocentesis was recommended to the family and performed. Result of the amniocentesis revealed a different translocation of chromosome 15; t(15;Y)(q11;q12). To our knowledge, this is the first report of two generations within a family, bearing different translocations of a chromosome. On top of all previous studies investigating ICE, our case adds an important finding, showing not only the rate of aneuploidies of structurally normal chromosomes, but also the rate of this 'alternating translocations' might be increased in translocation carriers, and this could be an important clue about interchromosomal effects.
 ...
PMID:Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature. 3286 90