Single amino acid substitution in important hemoglobinopathies does not disturb molecular function and biological process
نویسنده
چکیده
Hemoglobin is an important protein found in the red cells of many animals. In humans, the hemoglobin is mainly distributed in the red blood cell. Single amino acid substitution is the main pathogenesis of most hemoglobin disorders. Here, the author used a new gene ontology technology to predict the molecular function and biological process of four important hemoglobin disorders with single substitution. The four studied important abnormal hemoglobins (Hb) with single substitution included Hb S, Hb E, Hb C, and Hb J-Baltimore. Using the GoFigure server, the molecular function and biological process in normal and abnormal hemoglobins was predicted. Compared with normal hemoglobin, all studied abnormal hemoglobins had the same function and biological process. This indicated that the overall function of oxygen transportation is not disturbed in the studied hemoglobin disorders. Clinical findings of oxygen depletion in abnormal hemoglobin should therefore be due to the other processes rather than genomics, proteomics, and expression levels.
منابع مشابه
In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene
Single amino acid substitutions in the globin chain are the most common forms of genetic variations that produce hemoglobinopathies--the most widespread inherited disorders worldwide. Several hemoglobinopathies result from homozygosity or compound heterozygosity to beta-globin (HBB) gene mutations, such as that producing sickle cell hemoglobin (HbS), HbC, HbD and HbE. Several of these mutations...
متن کاملPrioritization of Deleterious Variations in the Human Hypoxanthine-Guanine Phosphoribosyltransferase Gene
ABSTRACT Background and Objectives: Non-synonymous single nucleotide polymorphisms are typical genetic variations that may potentially affect the structure or function of expressed proteins, and therefore could be involved in complex disorders. A computational-based analysis has been done to evaluate the phenotypic effect of no...
متن کاملIntraerythrocytic crystalloid bodies in cats.
SEVERAL HEMOGLOBINOPATHIES of man are known to produce striking morphologic changes in erythrocytes. In vivo sickling, occurring under low oxygen tension, is well documented in hemoglobin 5 (1-lb S) disease. Osmotic dehydration produced by incubation in hypertonic salt solutions fosters sickling in these cells.’ This phenomenon is explained on the basis of a single amino acid substitution, vali...
متن کاملA single amino acid substitution in HIV-1 reverse transcriptase significantly reduces virion release.
HIV-1 protease (PR) mediates the proteolytic processing of virus particles during or after virus budding. PR activation is thought to be triggered by appropriate Gag-Pol/Gag-Pol interaction; factors affecting this interaction either enhance or reduce PR-mediated cleavage efficiency, resulting in markedly reduced virion production or the release of inadequately processed virions. We previously s...
متن کاملEvaluation of the Effect of Less Negatively Charged Amino Acid Substitution in Synthetic Tetramer Peptide S3 Derived from Horseshoe Crab Ambocyte on its Antibacterial Properties
Introduction: The study of the effects of synthetic peptides with antibacterial properties can provide more effective antibiotics. This study designed, expressed, and investigated the Sushi 3 tetramer peptide. Subsequently, it was compared in terms of changing antibacterial properties with another Sushi3 tetramer peptide the aspartic acid and proline amino acids of which were replaced with glyc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- International Journal of Nanomedicine
دوره 3 شماره
صفحات -
تاریخ انتشار 2008