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Genetics: Genetic Fundamentals Unveiled


Our own genomes carry the story of evolution, written in DNA, the language of molecular genetics, and the narrative is unmistakable.

Kenneth R. Miller



Biology illuminates the full spectrum of life by exploring how all living beings exist; from their creation, to how they function throughout their lives and to their end. Genetics is the branch of biology that aims to understand how traits are passed on from generation to generation and how they change over time, dictating the success or demise of living beings. The journey into unravelling this fascinating topic begins with a concise overview of genetics and its significance in understanding life, explaining the basics of DNA, genes, and chromosomes, and introduces the concept of heredity and how traits are passed down through generations.


Genetics at a Glance, and its Importance in Understanding Life

Genetics is the scientific field that investigates the mechanisms of heredity, inheritance, and variation in living organisms (Suzuki & Griffiths, 1976). Often the terms “heredity” and “inheritance” are taken as synonyms, but they are not. Heredity is the phenomenon through which traits are passed on from parents to progeny. Inheritance is the actual mechanism; the series of processes through which traits are passed on, through the transmission of genetic information. Inheritance involves the transfer of genes, which carry the instructions for specific traits, from one generation to the next. Variation, on the other hand, refers to the diversity of traits and characteristics within a population and explains why brothers and sisters share some traits but are not identical, even if they have the same biological parents. Heredity is composed of both inheritance and variation (Cooper, 2000). To better understand these concepts, heredity can be imagined as a recipe book that contains all the instructions for making various dishes. The book represents genetic information, and each recipe corresponds to a specific trait. Heredity is like passing this recipe book from one generation to the next. The children inherit the book from their parents, just as they inherit genes that carry instructions for traits. Inheritance refers to the specific recipes (genes) that are passed down from parents to children. However, within each generation, there may be variations in how the dish is prepared or modified, such as adding or substituting ingredients based on personal taste or cultural influences. These variations reflect the concept of variation in heredity, as each individual may put their unique twist on the inherited recipe while still following the fundamental instructions passed down through generations.

Figure 1: “DNA in all living things” by Bill Sanderson. Conceptual artwork representing the universality of DNA and the genetic code in all living things (DNA in All Living Things, Artwork - Science Photo Library, n.d.).

Genetics holds great significance in our understanding of life and its complexities. By investigating genes, DNA, and chromosomes, genetics provides insights into how traits are passed down from parents to offspring, shaping the characteristics and behaviours of individuals. It unveils the molecular mechanisms underlying biological processes, offering valuable knowledge about development, growth, reproduction, and evolution (Erwinsyah et al., 2017).


Genetics Basics: DNA, Genes, Chromosomes

Deoxyribonucleic acid, or DNA, is a remarkable molecule that carries the genetic instructions for building and maintaining living organisms. Structurally, DNA has two strands and looks like a twisted ladder, with a backbone made of sugar and phosphate, and the rungs formed by pairs of different chemicals called nitrogenous bases. The two twisted strands, in a helical shape, form the famous double helix (Calladine et al., 2004). The four nitrogenous bases in DNA are adenine (A), thymine (T), cytosine (C), and guanine (G). These bases form specific pairs: adenine pairs with thymine (A-T), and cytosine pairs with guanine (C-G). The specific arrangement of these base pairs along the DNA strand is what encodes the genetic information. It is akin to a language where the order of the letters (bases) conveys meaning and instructions (Roy & Kundu, 2021).



Figure 2: The double helix structure of DNA (What Is DNA? – YourGenome, n.d.).

Genes are specific segments of DNA that contain the instructions for building and maintaining proteins. They are the workhorses of our cells. Each gene carries the information required for a particular trait or function, whether it be the colour of our eyes, the shape of our nose, or the production of enzymes necessary for metabolic processes (Orgogozo et al., 2016). Genes are located at specific positions, known as loci, along the DNA strands, and they act as the blueprints that govern the formation and activities of our cells (Elston et al., 2012). The human genome is estimated to contain around 20,000 genes that contain instructions for protein synthesis (Homo_sapiens - Ensembl Genome Browser 109, n.d.). The genes are structured into coding regions, called exons, and non-coding regions, called introns. The exons contain the instructions necessary for protein production and provide the blueprint for the sequence of amino acids that make up a protein. Introns are transcribed along with the exons but are later removed during the initial stage of gene expression. Their presence in genes was once considered puzzling, as they do not directly contribute to protein synthesis.


However, research has revealed that introns do have important functions. They participate in gene regulation, influencing the timing and amount of protein production. The process of removing introns and joining exons together is called splicing. Alternative splicing is a process in which different combinations of exons are selected and joined together to generate multiple protein variants from a single gene. (Orgogozo et al., 2016). Genes don't act in isolation but interact with other genes and regulatory elements to control the development, growth, and functioning of organisms. Gene regulation is a complex process involving various mechanisms that determine when and to what extent a gene is activated or suppressed. This regulation ensures that genes are expressed in the right cells, at the right time, and in the right amounts (Latchman, 2005).

Figure 3: Overview of the interconnection between the concepts of DNA, genes and chromosomes (DNA, Genes & Chromosomes Overview, n.d.).

Chromosomes are structures within the nucleus of our cells that serve as the carriers of DNA. They are long, thread-like structures composed of DNA wrapped around proteins called histones. This coiling and packaging of DNA into chromosomes enable it to fit within the limited space of the cell nucleus (Antonin & Neumann, 2016). At the most fundamental level, a chromosome consists of two identical copies, called chromatids, that are joined together at a region known as the centromere. The chromatids contain the same genetic information because they are replicated during the cell cycle. When a cell is preparing to divide, the chromosomes condense and become visible under a microscope (Erwinsyah et al., 2017).


Humans typically have 23 pairs of chromosomes, totalling 46 chromosomes. One member of each pair is inherited from the mother (via the egg cell), and the other from the father (via the sperm cell). The first 22 pairs are known as autosomes, are responsible for most of our traits and are similar between males and females. The 23rd pair determines an individual's sex: females have two X chromosomes (XX), while males have one X and one Y chromosome (XY) (Gartler, 2006). Chromosomes play a crucial role in the organisation, protection, and transmission of genetic material. During cell division, the DNA in chromosomes undergoes replication, ensuring that each daughter cell receives an exact copy of the genetic information. This fidelity in DNA replication is essential for maintaining the stability of genetic traits across generations (Wilhelm et al., 2020).

Figure 4: Human chromosomes as viewed under the microscope (All about Chromosomes - OpenLearn - Open University, n.d.).
Heredity: How Traits Are Inherited from Generation to Generation

The inheritance of traits from one generation to the next is a fascinating process that involves the transmission of genetic information from parents to offspring. The understanding of this mechanism is fundamental to comprehending the diversity of traits observed within populations.


At the core of inheritance is the concept of genes, which are segments of DNA that carry the instructions for producing specific proteins. These proteins play a crucial role in determining various traits and characteristics of an organism, such as eye colour, height, or susceptibility to certain diseases (Orgogozo et al., 2016). In sexually reproducing organisms, including humans, traits are inherited through the combination of genetic material from two parents. Each parent contributes one set of chromosomes to their offspring, with half of the genetic material originating from the mother and the other half from the father (Calladine et al., 2004).


The process of inheriting traits follows Mendel's laws of inheritance, which describe the patterns of transmission. According to Mendel's principles, each individual possesses two copies of each gene, known as alleles, with one allele inherited from each parent. Dominant and recessive alleles are two important concepts in inheritance. Dominant alleles are expressed when present, even if the individual possesses only one copy of the allele. Recessive alleles, on the other hand, require two copies to be expressed. In this case, if an individual has two different alleles for a trait, the dominant allele will determine the trait's expression (McKusick, 1966).

Figure 5: "Genetic family tree" (1994) by Andrzej Dudzinski (Genetic Family Tree: Artwork of Genetic Research - Science Photo Library).

The way alleles segregate (i.e. the way two alleles' coding for the same trait separate during gamete formation) and combine during reproduction is key to understanding inheritance patterns. This occurs through the process of meiosis, a specialised form of cell division that produces gametes (sperm and eggs) with half the number of chromosomes as the parent cell (Rosenberg & Rosenberg, 2012). As previously discussed, humans typically possess 46 chromosomes in most of their cells, with 23 inherited from each parent. The accurate number of chromosomes is crucial for proper cell functioning, as an excess or deficiency can significantly impact cell function.


Meiosis is the process through which cells carefully divide and distribute their chromosomes, ensuring that each gamete (egg or sperm) carries exactly 23 chromosomes. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the resulting fertilized egg contains the complete set of 46 chromosomes. As the fertilized egg develops into a new human, all cells will possess 46 chromosomes (Meiosis, n.d.). When gametes from two parents combine during fertilisation, the resulting offspring inherits a unique combination of alleles. This accounts for the vast diversity of traits observed within a population. In addition to Mendelian inheritance, other factors can influence the expression of traits. Polygenic inheritance involves the interaction of multiple genes, each contributing a small effect, in determining a trait. Complex traits, such as height or intelligence, are often influenced by multiple genes (Harel & Lupski, 2020).

Figure 6: “Meiosis and you” by Eat Cho. Surreal depiction of meiosis within living organisms (Discover - INPRNT, n.d.).

Environmental factors can also influence the expression of traits. While genes provide the blueprint, environmental conditions during development and throughout life can affect how traits are expressed. For example, nutrition, exposure to toxins, and lifestyle choices can impact the manifestation of certain genetic traits (Jaenisch & Bird, 2003). Advancements in genetic research and technologies have allowed scientists to delve deeper into the mechanisms of inheritance. Techniques such as genome sequencing and genetic mapping have provided insights into specific genes and their association with various traits and disorders (Ahmad Mir et al., 2023; Kulkarni & Pfeifer, 2015).


Conclusion

Genetics is the study of how traits are passed down from one generation to the next. It involves DNA, genes, and chromosomes, which play crucial roles in determining the characteristics and behaviours of living organisms. DNA, or deoxyribonucleic acid, is a molecule that carries the genetic instructions for building and maintaining living organisms. Genes are segments of DNA that contain instructions for specific traits, and they are located on chromosomes. Humans typically have 46 chromosomes, with 23 inherited from each parent. During the process of reproduction, genetic material from both parents combines to form offspring. This occurs through meiosis, a specialised form of cell division that ensures each gamete (sperm or egg) carries exactly half the number of chromosomes. When fertilization occurs, the resulting fertilized egg contains the full set of 46 chromosomes.

Understanding genetics provides insights into how traits are inherited and how they contribute to the diversity observed within populations. It also helps us comprehend the molecular foundations of life and opens up possibilities for advancements in medical research and personalised medicine.

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Visual Sources

Figure 1: DNA in all living things, artwork - Stock Image - G110/0956 - Science Photo Library. (n.d.). [Image] https://www.sciencephoto.com/media/210403/view/dna-in-all-living-things-artwork

Figure 2: What is DNA? – YourGenome. (n.d.). [Image] https://www.yourgenome.org/facts/what-is-dna/

Figure 3: DNA, Genes & Chromosomes Overview. (n.d.). [Image] https://my.clevelandclinic.org/health/body/23064-dna-genes--chromosomes

Figure 4: All about chromosomes - OpenLearn - Open University. (n.d.). [Image] https://www.open.edu/openlearn/body-mind/all-about-chromosomes


Figure 5: Genetic family tree: Artwork of genetic research - Stock Image - G210/0529 - Science Photo Library. (n.d.). [Image] https://www.sciencephoto.com/media/211049/view/genetic-family-tree-artwork-of-genetic-research

Figure 6: Discover - INPRNT. (n.d.). [Image] https://www.inprnt.com/discover/image/eatcho/meiosis-and-you






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