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Gene Review

EGI  -  epilepsy, generalized, idiopathic

Homo sapiens

Synonyms: EIG, EIG1
 
 
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Disease relevance of EGI

  • PURPOSE: The present replication study was designed to test the validity of a previously mapped susceptibility locus (EGI) for common subtypes of idiopathic generalized epilepsy (IGE) in chromosomal region 8q24 [1].
  • Parametric and nonparametric multipoint linkage analyses were conducted between the IGE trait (either "idiopathic" generalized seizure or generalized spike-wave EEG discharges) and three microsatellite polymorphisms (D8S256, D8S284, D8S1128) encompassing the putative EGI locus [1].
  • When expressed in Escherichia coli as a fusion protein with beta-galactosidase, the product for the cDNA was specifically recognized by a rabbit antibody raised against EGIP-D that had been purified from embryos [2].
 

High impact information on EGI

 

Biological context of EGI

  • A general expression vector, pAMH110, containing the promoter and terminator sequences of the strongly expressed main cellobiohydrolase 1 (cbh1) gene was used to overexpress a cDNA coding for EGI, the major endoglucanase (1,4,beta-D-glucan glucanohydrolase, EC 3.2.1.4) [4].
  • The deduced amino acid sequence of EGI was 435 amino acids in length and the coding region was interrupted by an intron [5].
  • We have cloned an endoglucanase (EGI) gene and a cellobiohydrolase (CBHI) gene of Humicola grisea var. thermoidea using a portion of the Trichoderma reesei endoglucanase I gene as a probe, and determined their nucleotide sequences [5].
  • 0. CBHI and EGI had distinct substrate specificities: CBHI showed high activity toward Avicel, whereas EGI showed high activity toward carboxymethyl cellulose (CMC) [5].
  • Endoglucanase I (EGI) from Trichoderma viride HK-75 catalyzes not only hydrolysis but also transglycosylation reactions of cellooligosaccharides [6].
 

Associations of EGI with chemical compounds

  • In the high-pH range (6-9), increasing pH resulted in a similar conformational change occurring in free CBHI and EGI, while such treatment gave different changes of the two enzyme conformations in the presence of cellobiose [7].
  • In order to characterize the important amino acid residues in transglycosylation of EGI, three Tyr, one Leu, and two Glu residues of EGI were replaced by Trp or Asp [6].
 

Analytical, diagnostic and therapeutic context of EGI

  • Effects of pH and ligand binding upon the conformation of cellobiohydrolase I (CBHI) and endoglucanase I (EGI) from Trichoderma pseudokiningii S-38 have been studied by circular dichroism measurements [7].

References

  1. Replication analysis of a putative susceptibility locus (EGI) for idiopathic generalized epilepsy on chromosome 8q24. Sander, T., Kretz, R., Schulz, H., Sailer, U., Bauer, G., Scaramelli, A., Epplen, J.T., Riess, O., Janz, D. Epilepsia (1998) [Pubmed]
  2. Molecular cloning of a cDNA that encodes the precursor to several exogastrula-inducing peptides, epidermal-growth-factor-related polypeptides of the sea urchin Anthocidaris crassispina. Yamasu, K., Watanabe, H., Kohchi, C., Soma, G., Mizuno, D., Akasaka, K., Shimada, H., Suyemitsu, T., Ishihara, K. Eur. J. Biochem. (1995) [Pubmed]
  3. Transcriptional regulation of the gene for epidermal growth factor-like peptides in sea urchin embryos. Yamasu, K., Suzuki, G., Horii, K., Suyemitsu, T. Int. J. Dev. Biol. (2000) [Pubmed]
  4. Genetic engineering of Trichoderma to produce strains with novel cellulase profiles. Harkki, A., Mäntylä, A., Penttilä, M., Muttilainen, S., Bühler, R., Suominen, P., Knowles, J., Nevalainen, H. Enzyme Microb. Technol. (1991) [Pubmed]
  5. Cloning, sequencing, and expression of the cellulase genes of Humicola grisea var. thermoidea. Takashima, S., Nakamura, A., Hidaka, M., Masaki, H., Uozumi, T. J. Biotechnol. (1996) [Pubmed]
  6. Effects of amino acid alterations on the transglycosylation reaction of endoglucanase I from Trichoderma viride HK-75. Kwon, I., Ekino, K., Oka, T., Goto, M., Furukawa, K. Biosci. Biotechnol. Biochem. (2002) [Pubmed]
  7. Circular dichroism studies in conformation of cellobiohydrolase and endoglucanase from Trichoderma pseudokiningii S-38: effects of pH and ligand binding. Yan, B., Sun, Y.Q. J. Protein Chem. (1997) [Pubmed]
 
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