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)

The study analyzes exon 15 of the adenomatous polyposis coli gene (APC) in a 49-year-old male patient with brain metastasis. The primary site was lung carcinoma. PCR method and direct DNA sequencing of the metastasis and autologous lymphocyte samples identified the presence of a somatic mutation. The substitution was at position 5883 G-A in the metastasis tissue. The mutation was confirmed by RFLP analysis using Msp I endonuclease, since the mutation strikes the Msp I restriction site. Immunohistochemical analysis revealed the lack of protein expression of this tumor suppressor gene. The main molecular activator of the wnt pathway, beta-catenin, was expressed, and located in the nucleus. The mutation is a silent mutation that might have consequences in the creation of a new splice site. Different single-base substitutions in APC exons need not only be evaluated by the predicted change in amino acid sequence, but rather at the nucleotide level itself. In our opinion, such silent mutations should also be incorporated in mutation detection rate and validation.
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PMID:Report on mutation in exon 15 of the APC gene in a case of brain metastasis. 1971 Oct 14

Electrochemical methods proved useful as simple and inexpensive tools for the analysis of natural as well as chemically modified nucleic acids. In particular, covalently attached metal-containing groups usually render the DNA well-pronounced electrochemical activity related to redox processes of the metal moieties, which can in some cases be coupled to catalytic hydrogen evolution at mercury or some types of amalgam electrodes. In this paper we used voltammetry at the mercury-based electrodes for the monitoring of DNA modification with cis-diamminedichloroplatinum (cisplatin), a representative of metallodrugs used in the treatment of various types of cancer or being developed for such purpose. In cyclic voltammetry at the mercury electrode, the cisplatin-modified DNA yielded catalytic currents the intensity of which reflected DNA modification extent. In square-wave voltammetry, during anodic polarization after prereduction of the cisplatinated DNA, a well-developed, symmetrical signal (peak P) was obtained. Intensity of the peak P linearly responded to the extent of DNA modification at levels relevant for biochemical studies (rb = 0.01-0.10, where rb is the number of platinum atoms bound per DNA nucleotide). We demonstrate a correlation between the peak P intensity and a loss of sequence-specific DNA binding by tumor suppressor protein p53, as well as blockage of DNA digestion by a restriction endonuclease Msp I (both caused by the DNA cisplatination). Application of the electrochemical technique in studies of DNA reactivity with various anticancer platinum compounds, as well as for an easy determination of the extent of DNA platination in studies of its biochemical effects, is discussed.
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PMID:Determination of the level of DNA modification with cisplatin by catalytic hydrogen evolution at mercury-based electrodes. 2018 31

This study analyzed 50 varicella zoster virus (VZV) samples collected during 2004 to 2007 from patients with VZV infection, who were treated at the National Center of Communicable Diseases, Ulan-Bator, Mongolia. The method based on amplification of specific DNA fragments of the ORF21, ORF22, and ORF50 genes was used, followed by the sequencing and detection of the status of characteristic point mutations in these fragments. The results indicated that the collected samples belonged to genotypes J (62%), M1 (18%), E1 (12%), E2 (4%), and M2 (4%). Moreover, restriction endonuclease polymorphism in ORF 62 for the cleavage site Smal and Mspl, in ORF 38 and ORF 54 for the cleavage site Pstl and Bgll were analyzed. All the samples were Sma- Msp-. All samples with genotype E were Pst+ Bgl-; all samples with genotype M1 and M2 were Pst+ Bgl+. Out of 31 samples with genotype J, 29 and 2 were Pst+ Bgl+ and Pst+ Bgl+, respectively. The study could identify the genotypes of VZV circulating in Mongolia and confirmed the absence of mutations characteristic for the vaccine strain.
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PMID:[Genotyping of varicella zoster virus strains isolated in Mongolia]. 2126 Sep 96

Mutations of the ras genes in codons 12, 13 or 61 make them oncogenic. There are several methods to determine the point mutations in the ras family. In an attempt to do so in a sensitive and time saving manner we have checked a total of 51 sarcomas (14 bone tumors and 37 soft tissue tumors) for mutations in codon 12 of the c-H-ras oncogene. First we amplified a 100 bp fragment covering this codon and then performed RFLP analysis after digestion with restriction endonuclease Msp I. We did not find mutations in any of the tumors. Our results, may reinforce previous data on the fact that ras genes do not play an important role in tumorigenesis of sarcomas.
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PMID:Lack of mutation at codon 12 of the C-h-ras oncogene in 51 human sarcomas assessed by PCR-rflp. 2157 33

A study was undertaken to investigate the presence of archaeal diversity in saltpan sediments of Goa, India by 16S rDNA-dependent molecular phylogeny. Small subunit rRNA (16S rDNA) from saltpan sediment metagenome were amplified by polymerase chain reaction (PCR) using primers specific to the domain archaea. 10 unique phylotypes were obtained by PCR based RFLP of 16S rRNA genes using endonuclease Msp 1, which was most suitable to score the genetic diversity. These phylotypes spanned a wide range within the domain archaea including both crenarchaeota and euryarcheaota. None of the retrieved crenarchaeota sequences could be grouped with previously cultured crenarchaeota however; two sequences were related with haloarchaea. Most of the sequences determined were closely related to the sequences that had been previously obtained from metagenome of a variety of marine environments. The phylogenetic study of a site investigated for the first time revealed the presence of low archaeal population but showed yet unclassified species, may specially adapted to the salt pan sediment of Goa.
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PMID:Phylogenetic characterization of archaea in saltpan sediments. 2265 53

Stathmin is an inhibitor of microtubule formation, as highly expressed in the lateral nucleus (LA) of the amygdala as well as in the thalamic and cortical structures that send information to the LA about the learned and innate fear. So we assume that STMN1 genetic variation may also affect the physical activity so as to influence the Residual Feed Intake (RFI) of duck. The Single Nucleotide Polymorphisms (SNPs) in duck Stathmin gene were screened by sequencing and genotyped by restriction endonuclease Msp I, EcoR I, Xho I, Taq I, EcoR II. A total of five SNPs (c.187 -15G > A, c.187 -110T > C, c.379 -95G > A, c.379 -318C > T, c.426 C > T) were detected in duck STMN1 gene. The c.187 -15G > A is near the 3' splice site of intron 2, which has a putative effect on the STMN1 pre-mRNA secondary structures. The c.187 -15G > A genotypes had significant effect on RFI of Peking drakes (P < 0.01). Individuals with heterozygous genotypes were more productive than that with homozygous genotypes, which suggested a molecular heterosis in c.187 -15 alleles on RFI. The current study is the first step to confirm the relationship between STMN1 gene polymorphisms and RFI. Supplemental material is available for this article. Go to the publisher's online edition of Animal Biotechnology for a figure of linkage disequilibrium between SNPs and table about frequencies of haploype.
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PMID:The fear gene stathmin alleles generated heterosis on feed efficiency parameters in Peking ducks. 2313 3


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