ABSTRACT
The organization of the genetic information and its ability to be conserved and translated to proteins with low error rates have been the subject of study by scientists from different disciplines. Recently, it has been proposed that living organisms display an intra-cellular transmission system of genetic information, similar to a model of digital communication system, in which there is the ability to detect and correct errors. In this work, the concept of Concatenated Genetic Encoder is introduced and applied to the analysis of protein sequences as a tool for exploring evolutionary relationships. For such purposes Error Correcting Codes (ECCs) are used to represent proteins. A methodology for representing or identifying proteins by use of BCH codes over â¤20 and F4×â¤5 is proposed and cytochrome b6-f complex subunit 6-OS sequences, corresponding to different plants species, are analyzed according to the proposed methodology and results are contrasted to phylogenetic and taxonomic analyses. Through the analyses, it was observed that using BCH codes only some sequences are identified, all of which differ in one amino acid from the original sequence. In addition, mathematical relationships among identified sequences are established by considering minimal polynomials, where such sequences showed a close relationship as revealed in the phylogenetic reconstruction. Results, here shown, point out that communication theory may provide biology of interesting and useful tools to identify biological relationships among proteins, however the proposed methodology needs to be improved and rigorously tested in order to become into an applicable tool for biological analysis.
Subject(s)
Amino Acid Sequence/physiology , Evolution, Molecular , Genetic Code/physiology , Models, Theoretical , PhylogenyABSTRACT
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Subject(s)
Male , Infant , Humans , Gaucher Disease/classification , Gaucher Disease/genetics , Gaucher Disease/physiopathology , Gaucher Disease/therapy , Mutation/genetics , Glucosylceramidase/chemistry , Glucosylceramidase/genetics , Gaucher Disease/diagnosis , Gaucher Disease/epidemiology , Gaucher Disease/pathology , Acute Disease , Multiple Organ Failure , Metabolism, Inborn Errors , Magnetic Resonance Imaging , DNA, Recombinant/administration & dosage , Prenatal DiagnosisABSTRACT
Gaucher disease is the most common of the lysosomal storage disorders, affecting all ethnic groups. The pathology of this recessively inherited disease arises from the accumulation of glucocerebroside in tissues due to deficient activity of the enzyme glucocerebrosidase (E.C. 3.2.1.45). The glucocerebrosidase (GBA) gene spans a 7.2kb fragment located on locus 1q 21, consisting of 11 exons and 10 introns. Located 16 kb downstream is a highly homologous pseudogene sequence [M. Horowitz, S. Wilder, Z. Horowitz, O. Reiner, T. Gelbart, E. Beutler, The Human Glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 4 (1) (1989) 87-96.]. Fourteen fragments comprising 11 exons of the GBA gene were analyzed in DNA samples from 25 Colombian patients using denaturing High Pressure Liquid Chromatography (DHPLC). Sequencing of abnormal findings led to the discovery of three novel mutations (c.595_596 delCT, c.898 delG and c.1,255 G>C [p.D 419 H] in exons 6, 7, and 9 of the GBA gene) with high prevalence among Colombian patients. We have also found the presence of a double mutation p.L 483 P+p.E 355 K (L 444 P+E 326 K, traditional nomenclature) in two different families classified as Gaucher type 1. This mutation was previously reported in one patient with Gaucher type 2. We have found DHPLC to be a reliable and sensitive method for the detection of mutations and allelic variation in Gaucher patients.
