The power is in the sequence!

To decode DNA, it’s essential to read the order of the letters that compose it. This is called sequencing. This sequence of letters is precisely what varies from one species to another and from one individual to another.

Let’s play!

Mix the four letters of DNA to create the 24 possible combinations. Each sequence produced reveals a new living organism.

Learn more about the genomic characteristics of selected living organisms :

There are two types of melanin: eumelanin, which ranges in color from brown to black, and pheomelanin, which ranges in color from red to pink. Redheads have a mutation in the MC1R gene that causes them to produce more pheomelanin than eumelanin, so their hair is red. This is a recessive gene. For a child to have red hair, both biological parents must each pass on a copy of the recessive gene. The MC1R gene is located on chromosome 16

Source: The Chemistry of Redheads – Let’s Talk Science

Darker-skinned people produce more melanin than fair-skinned people. This is genetically determined. The role of melanin is to protect our DNA from sun damage (UV rays). High levels of melanin help protect the DNA of skin cells from molecular damage caused by UV radiation.

Alpha and beta particles, as well as X-rays, can modify a DNA molecule in one of three ways, causing:

  • A change in the chemical structure of the bases
  • A breakdown of the sugar-phosphate backbone
  • A rupture of the hydrogen bonds connecting the base pairs

Source: Full article: Melanogenic Difference Consideration in Ethnic Skin Type: A Balance Approach Between Skin Brightening Applications and Beneficial Sun Exposure

People with lactose intolerance produce little or no lactase, the enzyme capable of digesting lactose. All individuals produce lactase at birth, but some lose this ability as they age. It is the LCT gene that determines whether an individual will produce lactase for life or not. The allele that codes for lactase production is dominant.

Source: Full article: Lactose intolerance: diagnosis, genetic, and clinical factors

Vitiligo is a loss of melanocytes in the skin, resulting in depigmentation of skin areas of various sizes. The cause remains unknown, but genetic and autoimmune factors are likely.

Source: Vitiligo – Dermatologic Disorders – Merck Manual Professional Edition

Hair can have different textures and shapes. Different genes, including the EDAR gene, are involved in the variations between hair types. It’s also thought that curly hair may have played a role in evolution, as it provides more protection from the sun than straight hair!

‘’Gène EDAR mis en lumière : (…), hair shape was scored on a simple four-point scale (straight, wavy, curly or frizzy) and found to be associated with polymorphic variation in known curl-associated genes (EDAR, trichohyalin) and a yet non-described gene, protease serine S1 family member 53a (PRSS53).‘’

Source:The biology and genetics of curly hair – Westgate – 2017 – Experimental Dermatology – Wiley Online Library

At the end of chromosomes are telomeres. These repetitive DNA sequences contain no genes: they are there to preserve the integrity of our genetic heritage. But every time a cell recopies its DNA before dividing, it loses a little piece of telomere. They are the first to be damaged when we are subjected to UV rays, radiation and so on. As our lives progress, our telomeres shorten. Telomeres are shorter in the elderly, making them more vulnerable to certain diseases.

Additional information: Are Telomeres the Key to Aging and Cancer

Monozygotic twins initially share the same DNA. However, the mutations that will occur during their lives, as well as epigenetic modifications (changes in DNA due to the environment), are not necessarily the same for both individuals. The DNA of two identical twins therefore differs more and more over the course of their lives.

Monozygotic twins are very useful for scientific research. By comparing the tastes and habits of two people sharing the same genetic code, we can find out what is and isn’t determined by DNA.

The DNA of an astronaut who spent a year in space was compared with that of his twin brother who remained on earth. This made it possible, for example, to determine the changes in DNA caused by prolonged space travel.

Source : Twins can become ‘unidentical’—and more fascinating twin facts

Albinism is a rare hereditary disease characterized by little or no production of melanin, a skin pigment. Skin, hair and eyes are affected, or sometimes only the eyes.

Albinism is a genetic disease that exists in several forms and is caused by different genes.  There are 19 known genes involved in the different forms of albinism

Source : Albinism – Skin Disorders – Merck Manual Consumer Version

Clinique et génétique de l’albinisme – ScienceDirect

Latin name: Pan troglodytes

Humans share 98.8% of their DNA with chimpanzees and bonobos. We are so similar because we share a relatively recent common ancestor. Half-human, half-chimpanzee – Québec Science Comparing Chimp, Bonobo and Human DNA | AMNH

Statistics (La Presse, Smithsonian)

  • 3.5 billion years old – Age of the oldest known bacteria, found in Australia
  • 500 million years old – Last common ancestor between fish and humans
  • Between 5 and 7 million years ago – Last common ancestor of humans and chimpanzees
  • 430,000 years ago – Appearance of Neanderthal man
  • 40,000 years ago – Disappearance of Neanderthal man
  • Between 350,000 and 260,000 years ago – Appearance of Homo sapiens

Additional information:The Smithsonian’s Human Origins Program | The Smithsonian Institution’s Human Origins Program

Latin name: Castor canadensis

In 2017, for Canada’s 150th anniversary, the complete genome of the Canadian Beaver was sequenced.

Beavers are highly resistant to cancer, thanks to several of their genes. These genes are therefore being studied to better understand cancer defense mechanisms.

Source : Homegrown research team sequences genome of iconic Canadian animal – the beaver – GenomeCanada

The genome of North American beaver provides insights into the mechanisms of its longevity and cancer resistance | bioRxiv

Latin name: Rangifer tarandus caribou

There is only one species of caribou in the world. In Canada, there are currently four subspecies of caribou, only one of which is found in Québec: the woodland caribou.There are three ecotypes of caribou in Québec. Woodland caribou, mountain caribou and migratory caribou. Ecotypes are subspecies that have adapted to different environments.

Source: Caribou in Canada – Canada.ca

Funded project : A DNA chip to monitor and protect caribou populations | GénomeQuébec inc.

Latin name: Delphinapterus leucas

Génome Québec and Espace pour la vie have launched a citizen science project to better understand the biodiversity of the St. Lawrence: Code Beluga!

To participate code Béluga | GénomeQuébec inc.

Belugas are cetaceans, just like whales and dolphins. Please note that belugas are not dolphins, but they do belong to the micro-order odontocetes (toothed cetaceans), as do dolphins, sperm whales, killer whales and so on.

Source: Beluga whale – Wikipedia

Latin name: Acipenser fulvescens    

There are two species of sturgeon in Québec: black and lake.The lake sturgeon was less common in the 70s, as it was fished extensively. Today, there are more individuals. It’s a species with a status: likely to be designated as threatened or vulnerable.

Sources (In French only)

Pleins feux sur… l’esturgeon jaune et l’âge des poissons – ministère des Forêts, de la Faune et des Parcs,   

Esturgeon jaune | Gouvernement du Québec

Segment | La Semaine Verte | ICI Radio-Canada.ca

Additional information: Aquatic Species at Risk, Lake Sturgeon (Acipenser fulvescens)

Latin name: Dreissena polymorpha

It’s a freshwater mussel native to the Caspian Sea. It is an invasive alien species that can be detected using environmental DNA. Invasive alien species are species that invade an environment that is not originally theirs. As these species often have no predators, they multiply rapidly and compete with native species for resources. 

Source: Zebra Mussel

Latin name: Archilochus colubris

It’s the only bird that can fly backwards. It can also fly while treading water. Its wings can beat up to 100 times per second, and it moves at an average speed of 56 km/h!

Source: The Science of Hummingbirds

Latin name: Apis

Bees are essential for pollination. Without bees, flowers would not be pollinated. There would be no fertilization, and therefore no fruit. Learn more about a Génome Québec funded project for the breeding and genomic selection of honeybees

Funded project: ApiOmic, honeybee breeding and selection using genomics | GénomeQuébec inc.

Latin name : Chrysaora pacifica       

We know the adult version of jellyfish, but few people know that they have a juvenile stage called a polyp.

Some jellyfish (Turritopsis dohrnii) are said to be immortal. They are so called because they can return to the polyp stage, an embryonic stage in their development.

Source: https://www.genomebc.ca/20-cool-genomics-facts/fact-19-immortal-jellyfish

Latin name: Abies fraseri       

Genomics makes it possible to monitor and protect the health of our forests.  For example, it enables us to track the progress of invasive exotic species, such as certain insect pests, and act before they can do too much damage.

Funded project: Genomics protecting our forests from pests | GénomeQuébec inc.

Latin name:Taraxacum officinale

Did you know that when a dandelion turns white, the filaments you see are called pappus? These are attached to the plant’s seeds. When it’s windy, or the flowers are blown, the pappus allow the seeds to float in the wind and be spread far and wide!

Sources: Pappus (botany) – Wikipedia, https://torontobotanicalgarden.ca/blog/word-of-the-week/botanical-nerd-word-pappus/

Latin name: Pisum sativum

It was these plants that Mendel used in his experiments to understand the foundations of heredity.

Additional information: Reproduction and heredity | GénomeQuébec inc.

Latin name: Solanum lycopersicum

Tomato crops are susceptible to various diseases and pathogens that can devastate them. This is particularly true of tomato bacterial canker, caused by the bacterium Clavibacter michiganensis.

Génome Québec is currently funding a research project focusing on the genome of this bacterium to understand its spread. The project also seeks to better understand and improve a biological control tool for this disease. This tool uses another bacterium, Bacillus spp.

Funded project: Understanding the interplay between Clavibacter michiganensis, tomato, and a biological control agent | GénomeQuébec inc.

Covid-19 (SARS-CoV-2)

Viruses are not cells but possess genetic material in the form of DNA or RNA. To replicate and propagate, they must exploit the mechanisms and resources of the cell they invade. This is called the host cell. In the case of DNA viruses, the viral genome enters the nucleus and fuses with the host cell’s DNA. The virus then takes control of the cell’s machinery to produce viral proteins.

RNA viruses, on the other hand, directly exploit the ribosomes of infected cells to produce viral proteins.

Additional information: DNA: The Code of Life! | GénomeQuébec inc.

Bacteria are single-celled living organisms with DNA. Some bacteria are used to produce useful substances such as insulin.

Additional information: https://www.genomebc.ca/20-cool-genomics-facts/fact-15-helpful-microorganisms

Latin name: Cantharellus cibarius     

Fungi are made up of a visible part, the sporophore, and a subterranean part, the mycelium. The latter is much larger and made up of filaments called hyphae. Sometimes, hyphal cells are not separated from each other and have several nuclei. The part of the mushroom we usually see and sometimes eat is the sporophore. It is used for the production and distribution of spores, in other words, for reproduction. 

Source: Hypha – Wikipedia

Additional information: Genomics-enhanced biovigilance to improve crop disease management | GénomeQuébec inc.

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Please contact us at the following email adress : education@genomequebec.com

Careers in Genomics

Working in genomics

àGenomics offers a range of career opportunities that require different levels of education. 

Biomedical Laboratory Technician*

Required level of education: College

Biomedical laboratory technicians conduct control tests on product samples based on specifications, protocols and standard operating procedures. They provide technical support to various departments: analytical, control or bio-analytical. Technicians use a variety of laboratory techniques to carry out chemical, biochemical or genetic tests.

Examples of typical duties:

  • Conducting physical, chemical, biological, biochemical or microbiological testing on samples of raw materials or finished products.
  • Performing analytical problem solving.
  • Producing documents on the results of sample testing.

Biochemist

Required level of education: University

Biochemists study and analyze chemical reactions and biological processes that occur at the molecular level of living organisms in order to enhance scientific knowledge. They also seek out real-world applications for research in areas such as medicine, pharmaceuticals, genetics, agriculture, industry and even biotechnology. 

Examples of typical duties:

  • Studying the chemical processes involved in the various functions of organisms, such as digestion, energy conversion in living matter, growth and aging.
  • Isolating and characterizing enzymes, hormones or genes and identifying their impact on the human body.
  • Using genetic engineering techniques.
  • Developing tests and new drugs.
  • Producing reports and recommendations on research results.

Biologist 

Required level of education: University

Biologists study living beings. They strive to understand how cells work. They focus on areas such as DNA replication and animal or plant cells in order to discover new therapeutic substances. They also study the chemical reactions in biological entities. They are fascinated by the interactions between active substances and living organisms. They are also interested in microorganisms, such as viruses, fungi and bacteria.

Examples of typical duties:

  • Studying manifestations of life in living organisms.
  • Conducting experiments on the growth, heredity and reproduction of plants and animals.
  • Studying the repercussions of human activities on the environment.
  • Studying the relationships among individuals (plants and animals) and their environment.

Microbiologist

Required level of education: University

Microbiologists study the structure, functions, ecology, biotechnology and genetics of microorganisms (viruses, bacteria, yeasts, fungi, algae) by conducting experiments and research to enhance scientific knowledge and develop practical applications for society and industry.

Examples of typical duties:

  • Taking samples from living tissue.
  • Isolating, identifying and harvesting specimens in the lab.
  • Studying the action of microorganisms on living tissue (infectious diseases) and examining how they propagate as infectious agents.
  • Studying microorganisms that decompose organic matter and fertilize soil.
  • Controlling the safety of food and water.
  • Controlling the quality of pharmaceuticals, drugs, cosmetics, pesticides, etc.

Many other professions require the use of genomics  

College level:

  • Analytical chemistry technician
  • Chemical process technician
  • Inspector
  • Crime scene technician

University level:

  • Biophysicist
  • Chemist
  • Coroner
  • Biotechnology engineer

To learn more about the various careers related to genomics, talk to your school guidance counsellor or consult the programs of study offered by the schools in your area. 

*Source : www.reperes.qc.ca (French only)

DNA
DNA and RNA

DNA day
DNA modification

Mutations: Driving biodiversity

Mutations are permanent changes to one or more nitrogenous bases in a DNA sequence. These genetic changes may be harmful or beneficial or may have no consequences for the organism. 

Mutations in the DNA sequence always occur randomly. However, beneficial mutations that give the organism a better chance of survival are more likely to be passed on to the next generation. This is how species evolve and adapt to changes in their environment. 

Mutations affecting a single nitrogenous base are very common. They’re called point mutations and they come in three categories:

Point mutationThis common type of change involves a single pair of nitrogenous bases
SubstitutionOne nitrogenous base is replaced with another
InsertionAn additional nitrogen base is inserted into the DNA sequence
DeletionA base is deleted from the DNA sequence
  • Substitutions can lead to a change in amino acid in the encoded protein.
  • Insertions and deletions create frameshifts by changing how codons are read, which disrupts the amino acid sequence and often produces a non-functional protein.

Mutations are also described according to the effect they produce.

Silent mutationsThese mutations cause no change in the final protein, as the amino acid in question can be encoded by different codons.  
Nonsense mutationThese mutations create a premature stop codon. The resulting proteins are incomplete and generally non-functional.
Missense mutationsThese mutations create a different amino acid in the final protein.

Other mutation typesThese mutation types involve more than one pair of nitrogenous bases
Tandem repeat mutations These mutations increase or decrease the number of repeats of a specific sequence of nitrogenous bases.
Chromosomal rearrangementsThese changes in the structure of chromosomes can disrupt normal gene function by putting genes under the control of incorrect regulators or changing their expression.
  • Breakdown in natural DNA repair mechanisms.
  • Exposure to mutagens such as toxic chemicals (e.g., in cigarettes), viruses and UV radiation from the sun.
  • Errors introduced during the DNA replication or genetic recombination that occurs during sex cell formation.

Cancer

Cancer is a disease characterized by the uncontrolled growth of abnormal cells in the body. The genetic mutations behind cancer change the mechanisms that control the cell cycle and apoptosis (programmed cell death) and allow cells to grow out of control and never die. These cells constantly divide and form tumours, which can then invade and harm the body’s tissues.

Understanding mutation mechanisms is therefore a vital part of cancer research. Identifying the specific types of mutations in cancer cells and understanding their causes lets researchers develop targeted methods to treat different types of cancer.

The study of genetic mutations has important implications for many other fields, such as evolution, developmental biology and research into hereditary diseases.

Mutation and evolution

Mutations are important from an evolutionary standpoint because they give rise to genetic diversity. Every mutation creates a new, unique version of a gene. If a mutation occurs in a sex cell, it can be passed on to the organism’s offspring.

When beneficial mutations give an organism an advantage in its specific environment, the organism is more likely to survive and reproduce. The frequency of a beneficial mutation that increases in a population over multiple generations is known as natural selection, a key concept in Charles Darwin’s theory of evolution.

Natural selection also tends to weed out mutations that hinder the survival of an organism, as individuals carrying these mutations will be less likely to reproduce and pass them on to their children.

Generation length is an also important factor in an organism’s ability to adapt to a changing environment. Organisms with shorter life cycles can potentially evolve faster, as they have more opportunities to generate offspring that carry beneficial mutations.

Evolution is therefore driven by the tension between mutations, which create genetic diversity, and natural selection, which acts as a “filter” that promotes beneficial mutations and hinders non-beneficial ones. This ongoing process of mutation and natural selection is how populations adapt, how they evolve over the long term, and how new species emerge.

Biotechnology  

What is biotechnology?

Biotechnology is the study of living organisms to develop technologies that are useful to society. There are applications for biotechnology in many fields, such as medicine, agriculture, engineering and the environment.

Transgenic organisms are created through genetic engineering, a technique that allows scientists to insert the genes of one species into the genome of another to modify certain traits. A transgenic organism therefore carries a gene from another species in its genome. For example, agricultural crops that require fewer pesticides can be engineered using a gene for resistance to certain pathogens.

CRISPR-Cas9 is used as “molecular scissors” to add, remove or change target genes. Scientists adapted this gene-editing technique from an immune defence mechanism in bacteria and archaea as a way to cut DNA using Cas9 proteins. Guide RNA sequences accompany and direct the Cas9 proteins to specific genes. Once CRISPR-Cas9 binds to its target, it cuts the DNA, which triggers the cell’s natural repair mechanisms, which modify or replace the existing gene.

Some body tissues, such as those in the spinal cord, don’t repair themselves if damaged. In such cases, stem cells can be reprogrammed to trigger the repair and regeneration of the affected tissues.

Embryonic stem cells are cells from an early‑stage embryo that differentiate into all types of cells in the body (muscle cells, epithelial cells, etc.). Although their regenerative potential is immense, their use raises ethical questions since the cells are extracted from embryos.

Scientists can also use cell reprogramming techniques to transform cells that have already differentiated—such as skin cells—into stem cells that can change into other cell types. These cells are called induced pluripotent stem cells.

Cloning is a technique to create an organism that is genetically identical to another. A famous example is Dolly, a sheep that was cloned in 1996. Learn more about Dolly here: DOLLY – Britannica

Ethical issues

Biotechnology opens up a world of possibilities. However, it also raises ethical questions about human responsibility and respect for life.

DNA: The Code of Life!

What is DNA?

DNA, which stands for deoxyribonucleic acid, is a molecule found in the cells of all living organisms that contains the genetic information an organism needs to develop, grow and function.

The complete set of genetic material that makes up an organism’s DNA is called its genome. Genomes vary between species, as well as within species and between individuals.

A genome is like a big recipe book. Genes are the recipes in the book that are used to produce a specific component that the organism needs to function.

DNA structure

The double helix code

DNA is a very long molecule with two strands shaped like a twisted ladder. This shape is what gives it the name double helix.  

The DNA strands are made of alternating sugar (deoxyribose) and phosphate molecules. Each sugar molecule bonds to one of four nitrogenous bases called adenine (A), thymine (T), cytosine (C) and guanine (G). When these bases form pairs, A always goes with T and C always goes with G. These pairs link the two strands together to form the “rungs” of the ladder.

How is DNA decoded?

The term genetic code refers to the order that the nitrogenous bases follow each other on a strand of DNA, an example being A-C-C-A-T-T-C-G-C-T. Genetic sequencing lets us decipher this code. These letters can be thought of as an alphabet forming words in a recipe that help us understand how organisms are put together.

A genome is made up of both coding and non-coding DNA. Coding DNA contains information that creates a protein. This type accounts for about 2% of the genome. The non-coding parts include promoters, stop codons and enhancers that regulate the expression of certain genes. The role of some non-coding DNA is still not fully understood.

Where is DNA located?

All of an organism‘s cells, except its gametes, contain a complete copy of its genetic material.

Animal and plant cells are called eukaryotic, which means they have a nucleus that stores DNA. Organisms, such as many microorganisms, that do not have a nucleus in their cells are called prokaryotic. In these cells, the DNA floats in the cytoplasm and clusters into a mass called the nucleoid.

In eukaryotic cells, the DNA—which contains all of an organism’s genetic information—stays in the nucleus, where it is protected and compacted.

To get the genetic information out of the nucleus, the DNA is copied into RNA. Messenger RNA then leaves the nucleus to direct protein synthesis in the cytoplasm, while other types of RNA, such as ribosomal RNA and transfer RNA, actively help different parts of the cell to function.

In eukaryotic cells, DNA is also found in mitochondria and chloroplasts.

Mitochondria are organelles that produce energy (ATP). This type of DNA is different from nuclear DNA. It has a circular shape and is transmitted from one generation to the next through the mother’s egg cells. This means that an entire maternal line will have the same mitochondrial DNA! (Note: Although rare, mitochondrial DNA can be passed on from the father. Studies are ongoing to understand how this happens.)

Chloroplasts are organelles that conduct photosynthesis. For a long time, it was thought that chloroplast DNA was also circular, but studies show that it is more often linear. Chloroplast DNA is passed on through egg cells or pollen and allows the chloroplasts to synthesize some of their proteins.

Although viruses are not made of cells, they do contain genetic material in the form of DNA or RNA. To replicate and spread, they need to hijack the mechanisms and resources of the cell they invade, called the host cell.

A DNA virus will enter the nucleus and deliver its viral genome into the host cell’s DNA. The virus then takes control of the cell’s machinery to produce viral proteins.

RNA viruses take over the ribosomes of infected cells directly to produce viral proteins.

DNA compaction: Big information in a small package

DNA is extremely long, and each human cell contains about 2 metres of this molecule! To fit the entirety of its genetic information into the tiny nucleus of a cell, DNA is compacted and coiled into chromatin.

Compaction also regulates access to DNA and controls gene expression. This is because compacted regions cannot be reached by RNA polymerases and therefore can’t be transcribed into RNA.

Chromatin is formed through multiple stages of compaction:

1. Proteins called histones form a spherical structure called the nucleosome. The DNA winds around this structure like a spool.

2. These nucleosomes become compacted to form chromatin, or strands of coiled DNA that look like beads on a necklace.  

When cells divide, chromatin reorganizes itself into an even more compact form called chromosomes

Humans have 23 pairs of chromosomes, with each pair assigned a number from 1 to 23. The first 22 pairs of chromosomes are called autosomes. The 23rd pair are the sex chromosomes, and these come in two types in humans: X and Y. The 23rd chromosome pair may consist of:

  • two identical chromosomes (XX)
  • two different chromosomes (XY)

The sex chromosomes do not always come in pairs, as an individual may have:

  • a single X chromosome

Or

  • three chromosomes (XXX, XXY or XYY)

An image of the size, shape, number and structure of an individual’s chromosomes can be produced with karyotyping, which involves taking a snapshot of chromosomes during cell division when the chromosomes are most visible.

Karyotyping is frequently done by medical geneticists to diagnose genetic disorders.

Chromosomes are passed on by the parents during sexual reproduction. Reproductive cells, called gametes, have one pair of chromosomes each. During fertilization, the gametes merge to form a zygote, which then inherits a complete set of chromosomes.

Each parent therefore passes on half of their chromosomes to their offspring. 

Educational space

Welcome to the Educational space

This platform is aimed primarily at secondary school students and science and technology teachers. It presents the basic concepts of genetics, as well as introducing the more advanced notions of genomics. Génome Québec also offers free classroom activities to help students put their knowledge into practice.

A reliable and relevant resource

The platform was developed with teachers and educational consultants to meet their needs, as well as the requirements of the Québec Ministry of Education’s Science and Technology program. In addition, all content and activities were developed with the support of scientific teams.

Come meet us!

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