Have you ever heard of the English naturalist Charles Darwin? Did you know that he was the first person to coin the idea that organisms change over time? He came up with the idea of natural selection and survival of the fittest – terms we still use today. His ideas were the start of a field of study we call genetics. This overview article discusses the definition of genetics, why it is an important topic to study as well as some key terms that you need to know. We also briefly introduce the types of inheritance.
What is genetics?
Genetics refers to the study of genes, their variation in a population, and their inheritance. Humans have recognised for a long time that parents will have offspring with similar traits. Indeed, humans began taking advantage of this fact long before the laws of genetics were established. Many of today’s most important crops, for instance, look nothing like their ancestors. This is due to thousands of years of selective breeding. The passing of specific traits from parents to offspring is called heredity, and this is why genetics is often referred to as the study of heredity.
Genetics: The study of DNA and hereditary changes in living organisms.
DNA contains the genetic information of an organism. It provides instructions to a cell for processes such as growth, survival and reproduction. A gene is a section of a DNA molecule that instructs a cell on a specific task and DNA contains a code that tells a cell to express certain genes. During reproduction, DNA is replicated and in sexual reproduction, half of the DNA of the offspring is provided by each of the parents. This means DNA is passed from a parent to its offspring and the offspring will inherit some of each parents genes.
Fig. 1 - Inheritance of features from the parent
What is the difference between genes and alleles?
All living things contain DNA packaged into chromosomes. A chromosome is formed when strands of DNA are tightly wrapped around histones (proteins found in chromosomes that help control actvity of the genes) to form a chromatid (identical halves of the replicated chromosome). Two chromatids join to make a chromosome. Humans have 46 chromosomes whereas some species can have over 100 chromosomes.
Each chromosome is made of a single, long, tightly compressed DNA molecule that houses a number of genes. A gene is a section of DNA, or a sequence of nucleotide bases, that usually codes for a particular polypeptide; they may also codehi for ribosomal RNAs or transfer RNAs. The exact position of the gene on a DNA molecule is known as its locus.
Humans have two copies of each gene – one set from their mother and one from their father. Genes can exist in two or more different forms that occupy the same locus but have slightly different nucleotide bases. These different forms are known as alleles. All individuals of a species possess the same genes, but they may not all have the same alleles. Only one allele can occur at a gene's locus on any chromosome; this allele is often represented by letters.
Locus: The exact position of the gene on a DNA molecule is known as its locus.
Gene: A section of DNA that codes for a specific protein.
Allele: Alternative forms of a gene occupying a position on a chromosome.
Chromosome: package of DNA found in the nucleus of the cell.
Fig. 2 - Representation of a gene
- DNA from one cell is about 2 metres long!
- Humans are 99-99.9% identical at the DNA level!
- Genes make up only 1.5% of DNA.
Gregor Mendel
It wasn’t until the 19th century that we began to really learn more about genetics and the mechanism of hereditary traits. Gregor Mendel performed experiments on pea plants and discovered how traits are passed on from parent to offspring. He found that when he bred red-flowered plants with white-flowered plants, all of the offspring had red flowers. This went against his prediction of pink flowers being produced. When the offspring were bred, he got a mix of red and white flowers. We now know that this is due to dominant and recessive alleles. The modern age of genetics is based on the re-discovery of his work early in the 20th century. Because of this, Gregor Mendel is known as the father of modern genetics.
What is Mendelian inheritance?
In Mendelian inheritance, offspring inherit genes from their parents in a way that follows the principles initially proposed by Gregor Mendel. This includes monohybrid (characteristics controlled by a single gene) and dihybrid (characteristics controlled by two genes) inheritance. Mendelian inheritance refers to the inheritance that is the consequence of a single gene.
What is non-Mendelian inheritance?
Non-Mendelian inheritance is any pattern of inheritance that does not occur as predicted by Mendel’s laws. There are several reasons why offspring might not follow Mendelian patterns. For instance, genes might exhibit linkage, or they might not follow Mendelian patterns of dominance. There might also be additional interactions between genes that affect the resulting phenotype.
Fig. 3 - Drawing of Mendel
Genetics Key Terms
Gregor Mendel paved the way to us understanding more about genes. We will cover some of the key vocabulary we use in genetics in the following sections.
Genotypes, phenotypes, and the environment
The alleles that an individual has make up its genotype or genetic constitution. You can think of the genotype as the blueprint for the organism's characteristics, such as its maximum height or the intensity of its colour.
However, environmental factors may also affect the expression of an individual's genes. The phenotype refers to the organism’s observed characteristics, which result from the expression of its genotype and its interaction with the environment. For instance, while a plant may have alleles that allow it to grow tall, it may remain quite small if it is growing in a nutrient-poor or excessively shady environment.
Phenotype: The organism's observed characteristics.
What is dominance in genetics?
As we said above, the pea plant experiment that Mendel did was a perfect example of dominant and recessive alleles.
There are usually two alleles present in an individual. They can either be dominant or recessive. A dominant allele is always expressed whereas a recessive allele will not be expressed in the presence of the dominant allele. A recessive gene will remain dormant unless it is paired with another recessive gene.
Dominant allele: An allele that always expresses itself.
Recessive allele: A gene that is not expressed in the presence of the dominant variant. A recessive gene will remain dormant unless it is paired with another recessive gene.
Homozygous and heterozygous
In diploid organisms (organisms that contain a complete set of chromosomes), chromosomes occur in homologous pairs. In other words, cells of diploid organisms contain two copies of every chromosome; this means that an individual carries two loci (position of an allele on the chromosome) each with one allele of a gene.
Fig. 4 - Heterozygous and homozygous alleles
There can, therefore, be different allele combinations in an individual. When the two alleles on each locus are the same, the individual is homozygous for a particular trait. When the two alleles are different, the individual is heterozygous for that trait.
For example, a plant with two T alleles has the genotype TT, and its phenotype would be tall, and a plant with two t alleles has the genotype tt and would be short. Both have homozygous genotypes. In contrast, a plant with one T and one t allele would have the heterozygous genotype Tt.
Homozygous: both alleles of the gene are present.
Heterozygous: Two different alleles are present.
Codominance
Many genes have different dominant traits. Sometimes two dominant genes are expressed at the same time. We call this codominance.
Codominant genes: Genes that express both alleles at pairing.
Fig. 5 - Codominance in coat colours of the cows
What is a test cross?
Phenotype does not always clearly reflect the genotype of an individual. For instance, if the short phenotype in a plant can only be expressed if the individual is homozygous recessive, one can assume that its genotype is tt. However, if the plant's phenotype is tall, it may still be either homozygous dominant (TT) or heterozygous (Tt).
A test cross is a method used to deduce the unknown genotype of an individual expressing the dominant phenotype. The unknown individual is crossed with a homozygous recessive individual. If the resulting offspring all express the dominant phenotype, then the unknown parent is homozygous dominant. If some offspring express the recessive phenotype, the unknown parent is heterozygous. For more in-depth explanation, see our Inheritance and Linkage articles.
Fig. 6 - Test cross example
Observations of these crosses led to the development of the law of segregation, which states that in diploid organisms, characteristics are determined by alleles that occur in pairs. Only one of each pair of alleles can be present in a single gamete.
What is linkage in genetics?
Autosomal linkage occurs when two or more genes on the same autosome (non-sex chromosome) do not assort independently during meiosis. When two genes are autosomally linked, they stay together in the original combination inherited from parents.
Sex linkage, on the other hand, occurs when genes are found on a region of a sex chromosome that is not present on the other sex chromosome. The inheritance of these genes is therefore dependent on the sex of the individual.
Why are genetics important?
As the basis of all life, genetics is important for many reasons. It has many significant applications.
It allows us to study:
- Hereditary diseases
- Pathogens
- Cancers
- Crime scenes
It allows us to create:
Genetics - Key takeaways
- Genetics refers to the study of genes, their variation in a population, and their inheritance.
- Gregor Mendel performed experiments on pea plants and discovered how traits are passed on from parent to offspring.
- In Mendelian inheritance, offspring inherit genes from their parents in a way that follows the principles initially proposed by Gregor Mendel. This includes monohybrid and dihybrid inheritance. Non-Mendelian inheritance is any pattern of inheritance that does not occur as predicted by Mendel’s laws.
- When the two alleles on each locus are the same, the individual is homozygous for a particular trait. When the two alleles are different, the individual is heterozygous for that trait.
- The dominant allele is always expressed in the phenotype, whereas the recessive allele can only be expressed when the dominant allele is absent.
- The law of segregation states that in diploid organisms, characteristics are determined by alleles that occur in pairs. Only one of each pair of alleles can be present in a single gamete.
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