Hello everyone, this is going to be a series of blog posts. Stay tuned so you don’t lose a single one! For this series, the blog posts will be:
The word mutation usually carries a strong feeling, but in reality a mutation is a change in the DNA sequence of an organism. We have discussed on the previous blog that living organisms have DNA, and that DNA carries the code to an organisms’ characteristics. What you might not know yet is that nature can make mistakes sometimes, and those mistakes are called mutations!
Every new biotechnology comes from an observed behavior of a living organism, and for mutations, that is also the case. To make it more understandable for favorable crop breeding, we must rewind a bit and acknowledge how and why mutations occur naturally.
When the cell of any living thing is preparing for division, DNA replication starts with the help of many enzymes. First, the DNA double helix is unwound and separated by topoisomerase and helicase, respectively. Each strand then serves as a template for DNA polymerase to synthetize a new, complementary strand (i.e. in the DNA, adenine (A) always pairs with thymine (T), and guanine (G) always pairs with cytosine (C)). Note that instead of north, south, east, and west, the DNA has its direction recognized by a 5’ → 3’ system; the enzyme DNA polymerase can only synthesize DNA from 5’ to 3’ direction.
When DNA is replicated, errors can occur, but they are extremely rare. The initial error rate of DNA polymerase is about 1 mistake per 100,000 nucleotides synthesized. However, cells are equipped with proofreading and mismatch-repair systems that correct almost all of these errors. After these correction mechanisms act, the real error rate drops to about 1 in 10,000,000,000 (ten billion) nucleotides. To put this into perspective, let’s consider Arabidopsis thaliana, a common model plant. Its genome contains approximately 2.7 million nucleotides per cell. With the corrected mutation rate, you would expect one mutation to occur for every:
In other words, a single mutation in Arabidopsis typically appears only after thousands of replication cycles.
The first time that the replication is checked for errors is by DNA polymerase itself, which discriminates against the incorporation of mismatched bases. Proofreading, also made by DNA polymerase, is another important mechanism for correction of errors in DNA replication. After finishing the replication of each strand, DNA polymerase goes through the complementary strand again to check for any errors. Even with all that scheme to repair mistakes if they happen, there is still a chance that an error goes through.
Now we understand that mistakes, or so-called mutations, can happen naturally. But how do they affect an organism? ↓
To form a protein, the DNA sequence must go through transcription, where the DNA is copied into a RNA molecule, that generates a messenger RNA (mRNA) to carry the genetic sequence. In passing from DNA to RNA, one nucleotide changes: where would be a Thymine (T) in DNA will be an Uracil (U) in the RNA. The mRNA is then translated into a protein.
With that in mind, if there is a change in the DNA sequence, there will be a change in the mRNA and the resulting protein. Mutations can occur in different ways, depending on the change that the DNA has suffered. The mutations can be classified into point and frameshift mutations.
Naturally occurring mutations have been very important for the evolution of all species for 3.5 billion years. Mutations can be deleterious, meaning that the resulting protein of the mutated gene won’t be produced, or it is produced but not functional, or even produced without normal functionality. Mutations can also be neutral, in which case it won’t have significant effects on the plant’s fitness, survival, or reproduction. Mutations are not aways bad as one may think. Beneficial mutations are those that make the organism more adapted to its environment in comparison to its parents.
As an example of a deleterious mutation, albinism mutation in plants usually means no chlorophyll (the pigment responsible for photosynthesis) is produced. Without photosynthesis, the plant won’t be able to produce energy and, therefore, die. Examples of beneficial mutations in plants include the removal of a toxic compound amygdalin in sweet almond kernels, caused by a point missense mutation; the longer grain length in rice, caused by a point nonsense mutation; and the six-rowed spikes in barley, caused by a frameshift mutation.
Natural mutations are primarily triggered by errors during DNA replication and repair, and exposure to natural environmental factors. The mutation rate is known to be affected by radiation, temperature, moisture, age of the seed, viral infection, and chemicals.
Now that we understand how natural mutation occurs, it is time for the next step: mutational breeding! The next blog of this series will dive into the world of induced mutations. How are we using this natural occurrence in our favor when developing new crop varieties? See you next month.
I am Dr. Luíza Favaratto, a Postdoctoral Researcher with Dr. Smyth at the University of Saskatchewan. Previously, I worked at the Laboratory of Biotechnology Applied to Agribusiness (UFES, Brazil). My expertise lies in genetically edited and modified organisms, biosafety protocols, and legislation. I have led projects in waste reuse, such as 2G ethanol production, and studied life in extreme environments like the deep sea. Currently, I focus on using CRISPR-Cas9 to strengthen plant immunity against viruses, advancing resilient agriculture. Beyond research, I address food insecurity and the climate crisis through science communication, with four published books and numerous articles and chapters. I believe gene editing is vital for enhancing crop resilience and nutrition, shaping a more sustainable food future.
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