Human Genome Evolution and Disease
Genome evolution is one of the key aspects that have helped determine the overall position of human beings from a scientific perspective, as it focuses more on providing scientists with an understanding of the changes occurring within the human body (Tomkins, 2016, p.261). The study of genome evolution has focused more on evaluating the changes in structure, otherwise referred to as a sequence, and size of the human gene within a given period. The study provides scientists with a better understanding of the changes occurring within the human body as well as some of the changes that human beings ought to anticipate in future (Kim, Park, and Seo, 2016, p.16). However, one of the most important aspects to note about the study of genome evolution is that it is experiencing constant changes that affect the understanding of the scientists in the field of human genes (Pasquier et al., 2016, p.7).
Figure 1: Mycobacterium leprae Genome
The first sequenced genome was published in the late 1970s when the scientists gained a basic understanding of human genes and the variations occurring among different individuals (Yuan et al., 2015, p.22). It has been easier for scientists as most of them used the first sequenced genome to create a comparative chart from which they studied the differences and similarities occurring within various genomes. The sequenced genome provides them with a clear platform from which they would have the capacity of having to engage in evaluation of differences and similarities (Yokoyama, Zhang, and Ma, 2014, p.8). Ultimately, this has been valuable in providing researchers with an understanding of how the human genome has evolved over the years (Stergachis et al, 2014, p.369). In addition, this has provided them with a front from which they would be willing to undertake their studies on the various genomes occurring within the human body as part of their analysis of the human body (Grégoire, Haudry, and Lerat, 2016, p.12).
Typically, the concept of genome sequencing has achieved notable progression over the years with scientists including more complex genomes as part of their evaluations in their study of the human body structure (Lesecque, Glémin, Lartillot, Mouchiroud, and Duret, 2014, p.12). The inclusion of complex genomes indicates that scientists tend to find it easier to adopt this concept of genome sequencing, especially when dealing with a comparative analysis of the human genes. Another key aspect that has occurred due to the progression of genome sequencing is the ability for scientists to engage in analyses of genomes belonging to both close and distant relatives. Previously, the comparative analysis of genomes only focused on a single human being with an intention of comparing genomes from different parts of the body (de Paiva Lopes et al., 2016, p.8). However, the progression of genome sequencing has provided scientists with a basic platform from which they are able to engage in the sequencing of genomes from two or more human beings.
Sequenced genomes occur in two distinct categories, which are prokaryotic and eukaryotic genomes, both of which differ significantly. Regarding prokaryotic genomes, one of the key features occurring within these genomes is that they tend to adopt three key mechanisms as part of their functionality (Paul, Minnick, and Chattopadhyay, 2016, p.12). The mechanisms are a mutation, horizontal gene transfer, and sexual reproduction. Most prokaryotes utilize the three mechanisms whilst sexual reproduction is common in eukaryotes. Kim et al (2016, p.4) argue that prokaryotic genomes tend to have a stronger connection while in the human body when compared to eukaryotic genomes which experience some form of resistance with regard to their natural environments.
Figure 2: Sequenced Karyotype Genome
On the other hand, evaluation of a sequenced eukaryotic genome indicates that eukaryotic genomes are somewhat larger than prokaryotic genomes, which acts as a better avenue for its ability to adopt new mechanisms from the surrounding environment. Acharya and Ghosh (2016, p.8) indicate that one of the key reasons eukaryotic genomes do not have constant defining mechanisms is that they tend to lack the element of proximity that would enhance their ability to code effectively. Thus, this leads to a situation where eukaryotic genes find themselves with different capacities compared to prokaryotic genomes. Another key aspect to note is that eukaryotic genomes consist of multiple chromosomes most of which are packed within the nuclear of the cell (Linz et al., 2016, p.13). In contrast, prokaryotic genomes are packed within the lining of the cell to help protect the cell from any form of harm or injury arising from the external environment (Qin, Jin, Zhou, Chen, and Ma, 2015, p.6).
Figure 3: DNA Sequence
Another key mechanism to understand as part of genome evolution is a mutation, which is a process occurring depending on the pressure that the genome may experience from the external environment (Denas et al., 2015, p.7). High numbers of mutations within a cell, mean there are higher chances of evolution. Therefore, they result in a situation where the cell can undergo a notable change in identity. When evaluating the changes occurring within a cell, one of the key aspects that researchers focus on is the mutation process, as this would determine the extent to which the evaluation process has occurred. In the event that the evaluation process creates a major shift in the cell structure, the cell will go through a mutation process referred to as frameshift mutation (Barbujani, Ghirotto, and Tassi, 2013, p.162). Ultimately, this would mean that the cell would lose its overall structure that defines its identity.
One of the key questions raised in understanding the concept of genome evolution is the significance of changes occurring in genomes in creating new species. In animals, most of the changes in the genomes tend to increase the possibilities of creating an alternate species that would have a combination of key genomes from different animals (Gradnigo, Majumdar, Norgren Jr, and Moriyama, 2016, p.9). One key example of an animal created through changes in genomes is the cichlid fish, which is found in some of the lakes on the African continent. A review of the fish indicates that it is somewhat different from other species of fish both morphologically and in their behavior (Vahdati and Wagner, 2016, p.15). Researchers have been on the forefront in suggesting that the occurrence of such changes in genomes indicates that human beings would also go through several structural changes depending on the evolution of genomes within the human body.
The human genome may help in the disease diagnosis process, as it creates a physical map focusing on the model of organisms, which is important in decoding complex systems within the human genome. The physical mapping process generates some form of platform from where researchers are able to isolate disease genes depending on the patterns of inheritance. It is much easier to create a pattern of inheritance using the human genome that would help in depicting specific DNA markers from which the researchers are able to establish a given pattern (Pasquier et al, 2016, p.4). Ultimately, this would make it easier to identify any foreign configurations associated with the pattern of inheritance, which is an important step in ensuring effectiveness in the disease diagnosis process.
On the other hand, the disease diagnosis process is much easier when using the human genome, as the DNA markers within the human genes create some form of separation between the markers, which is between 50 and 100 kilobase (kb) depending on the gene (Denas et al, 2015, p.7). However, the occurrence of disease genes changes the separation between the DNA markers, which would help in the identification of a disease within the human gene. Certainly, this would help in the overall process of disease diagnosis while ensuring that it is much easier for the researcher to identify the specific condition depending on the pattern created.
Figure 4: DNA Ladder
In summary, human genome evolution has played a central role in determining the analysis of human beings from a scientific perspective by providing researchers with an understanding of the varying elements that build the human body. In addition, human genomes have also helped in the evaluation and analysis of specific changes occurring within the human body as part of understanding the importance of scientific evaluations. The first sequenced genome was published in the late 1970s during which scientists had gained that basic understanding of human genes. In addition, they also play a central role in the disease diagnosis process, as it helps in creating a physical map focusing on the model of organisms and creates some form of separation between the markers, which is between 50 and 100 kilobase (kb) depending on the gene.
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