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Genetic Changes: Mutations, Medicine, Natural Selection and Evolution

Perspective - Journal of Molecular Pathophysiology (2022)

Genetic Changes: Mutations, Medicine, Natural Selection and Evolution

Lucio Bogli*
 
Department of Neurosurgery, University Hospital St. Anna, Ferrara, Italy
 
*Corresponding Author:

Lucio Bogli, Department of Neurosurgery, University Hospital St. Anna, Ferrara, Italy, Email: Boglionee189@gmail.com

Received: 23-Sep-2022, Manuscript No. JMOLPAT-22-80482; Editor assigned: 28-Sep-2022, Pre QC No. JMOLPAT-22-80482 (PQ); Reviewed: 14-Oct-2022, QC No. JMOLPAT-22-80482; Revised: 20-Oct-2022, Manuscript No. JMOLPAT-22-80482 (R); Published: 28-Oct-2022

Description

Mutations

On rare occasions, the second strand of DNA polymerizes incorrectly during DNA replication. These mistakes, known as mutations, can change an organism’s phenotype, particularly if they take place in a gene’s protein- coding region. Due to DNA polymerases’ ability to “proofread,” error rates are typically very low, 1 error in every 10–100 million nucleotides. Mutagenic processes are those that speed up the rate at which DNA alterations occur. Mutagenic substances encourage DNA replication errors, frequently by interfering with base-pairing structure, while UV radiation causes mutations by damaging the DNA structure [1,2]. Naturally occurring chemical damage to DNA also occurs, and cells use DNA repair processes to fix mismatches and breaks. The original sequence is not always returned by the repair, though. Reactive oxygen species, which are created by cellular aerobic respiration and can cause mutations, appear to be a particularly significant source of DNA damage. Errors in alignment during meiosis can also result in mutations in species that use chromosomal crossover to exchange DNA and recombine genes. Crossover errors are particularly common when homologous sequences lead to companion chromosomes adopting an incorrect alignment; this makes specific places in genomes more prone to this kind of mutation. These mistakes result in significant structural alterations in the DNA sequence, including duplications, inversions, and deletions of entire sections, and chromosomal translocations, which are the unintentional exchange of entire sequences across separate chromosomes.

Natural selection and evolution: Mutations change an organism’s genotype, and occasionally these results in the emergence of various phenotypes. The majority of mutations don’t significantly alter the phenotypic, health, or reproductive fitness of an organism [3,4].

The effects of mutations are mostly negative, although occasionally they can be positive. According to research done on the fruit fly Drosophila melanogaster, if a mutation alters a gene’s ability to generate a protein, around 70% of these mutations are harmful, with the remaining 20% either neutral or marginally helpful. Population genetics examines how genetic differences are distributed throughout populations and how they develop over time [5,6]. Natural selection, where a particular allele confers a selective or reproductive advantage to the organism, as well as other factors like mutation, genetic drift, genetic hitchhiking, artificial selection, and migration, are the main influences on changes in the frequency of an allele in a population. The genomes of organisms can alter considerably over many generations, leading to evolution. Selection for advantageous mutations, also known as adaptation, can lead a species to develop into forms that are more suited to surviving in its environment. Through the process of speciation, new species are created, which is frequently triggered by geographic separations that prevent populations from exchanging genes with one another. It is feasible to estimate the evolutionary distance between two species and the potential time of their divergence by examining the homology between the genomes of various species. In general, genetic comparisons are seen to be a more accurate way to determine how closely related different species are than phenotypic comparisons. Evolutionary trees, which reflect the common ancestry and divergence of species across time but do not demonstrate the exchange of genetic material between unrelated species, can be created using the evolutionary distances between species [7].

Medicine: Understanding how genetic diversity relates to human health and disease is the goal of medical genetics. Genetic linkage and genetic pedigree charts are frequently used by researchers to identify the region of the genome linked to a disease when they are looking for an unknown gene that might be involved in that condition [8]. Mendelian randomization is used to explore the genome for regions related with disorders at the population level. This strategy is particularly helpful for multigenic traits that are not clearly characterised by a single gene. The homologous genes in model species are frequently studied further after a candidate gene is discovered. The discipline of pharmacogenetics, which investigates how genotype can affect drug reactions, has emerged as a result of the improved accessibility of genotyping techniques in addition to the study of genetic illnesses.

References

Copyright: © 2022 The Authors. This is an open access article under the terms of the Creative Commons Attribution NonCommercial ShareAlike 4.0 (https://creativecommons.org/licenses/by-nc-sa/4.0/). This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.