Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A restriction-fragment-length polymorphism (RFLP) is described which is associated with the human carbonic anhydrase II gene (CA2) that codes for one of the three genetically distinct carbonic anhydrase isozymes, CA I, CA II, and CA III. The isolated DNA was cleaved with several restriction enzymes and subjected to Southern blot hybridization analysis using a DNA probe containing the 5' end of the human CA II gene. A two allele RFLP which was detected with the restriction endonuclease, Taq I, is expressed phenotypically on Southern blots as either a 5.4 kilobase (kb) fragment or as 4.0 and 1.4kb fragments. These fragments result from the presence or absence of a Taq I recognition site in the 5' flanking region approximately 1.0kb from the initiation codon of the CA II gene. Segregation analysis showed that the alleles are inherited in a Mendelian fashion, with a frequency of 50%.
 ...
PMID:DNA polymorphism in the 5' flanking region of the human carbonic anhydrase II gene on chromosome 8. 298 92

The effect of external inorganic carbon (C(i)) concentrations on protein biosynthesis and carbonic anhydrase (CA) mRNA abundance were examined in the eukaryotic alga Chlamydomonas reinhardtii. Transfer of high CO(2) (5%) grown algae to air levels of CO(2) resulted in the transitory synthesis of two polypeptides of approximately 49,000 and 52,000 daltons as well as prolonged synthesis and accumulation of the 37,000 dalton CA monomer and an unidentified 20,000 dalton polypeptide. The gene coding for carbonic anhydrase was isolated from a genomic expression library and subjected to restriction endonuclease analysis. Southern blot analysis of chromosomal DNA indicates that only a single copy of the gene is present. The 2.5 kilobase DNA fragment hybridizes specifically to a 1.4 kilobase transcript in RNA isolated from air-grown cells and from cells grown on 5% CO(2) that have been exposed to air levels of CO(2). Maximum mRNA abundance was observed after 1 to 3 hours of exposure to air. Transfer of air-grown cells to a high CO(2) environment resulted in the elimination of the CA transcript after 60 minutes of exposure. Changes in CA transcript abundance in response to external C(i) concentrations occurred in the presence or absence of light.
 ...
PMID:Effect of CO(2) Concentration on Protein Biosynthesis and Carbonic Anhydrase Expression in Chlamydomonas reinhardtii. 1666 34

The objective of this work was to develop a rapid screening method to identify the three single nucleotide polymorphisms (SNPs) in the TAS2R38 gene, with the aim of providing a significant contribution to studies designed to assess sensitivity to the bitter taste of 6-n-propylthiouracil (PROP). Specifically, the objective of this study was to characterize the TAS2R38 gene haplotypes in a group of 60 subjects with variable sensitivity to PROP and preliminarily genotyped for the rs2274333 allele (A/G) of carbonic anhydrase isoform VI gene (CA6). The molecular characterization of the TAS2R38 gene was conducted using the PCR-restriction fragment length polymorphism technique after creating artificial restriction sites upstream or downstream of the SNPs, as none of the three polymorphisms contributes to the formation of a restriction site for a specific endonuclease. The results indicate that the method described in this paper could be a valid and simple experimental strategy to identify genetic differences related to taste sensitivity to bitter taste, and could be applied as a nutrigenetics test in studies aimed at understanding people's eating behaviors.
...
PMID:Development of a molecular method for the rapid screening and identification of the three functionally relevant polymorphisms in the human TAS2R38 receptor gene in studies of sensitivity to the bitter taste of PROP. 2609 Feb 97