Topic 1: History and Importance of Genetics

Genetics is the study of genes and heredity is the passing on of those genes from one generation
to the next. The field of genetics arose out of the countless minds of scholars throughout the
years. Just like any other field of biology, it was formed by the constant writing of theories and
the constant debunking of them in order to reach what was true and correct. This topic focuses
on the many events that led to the birth of the field of genetics as well as the people who have
contributed to its development. Understanding the history behind it gives appreciation on the
efforts done in order make it what it is today.

Ancient civilizations and their understanding of heredity

There is evidence that showed people already had a very simple understanding of genetics and
heredity even as far back as 15,000 years ago. Although they did not know the specifics, they
nonetheless used what little they did know to improve their lives. They performed artificial
selection or selective breeding of good traits and characteristics. Nomadic tribes selectively
bred animals with favourable traits in order to improve the quality of the animals they herded
and domesticated. A Babylonian tablet dating more than 6 millennia ago showed pedigrees of
horses and suggested selective breeding of these horses. Some tomb paintings even showed the
inheritance of distinct traits in these horses. Not only animals were selectively bred, ancient
people used selective breeding in order to improve the quality of their crops. There have been
old carvings which have shown cross-pollination of date palm trees. The mechanism of this
inheritance was not understood well until the 19th century.

The earliest records of ideas regarding heredity were found during the time of the ancient
Greeks. Hippocrates (c. 460–c. 375 BCE), who we know as the father of medicine, was one
of the first people who addressed the inheritance of traits. He devised a something like a brick
and mortar theory. Hippocrates believed that invisible seeds which contained characteristics
and traits were found in the semen of men. These invisible seeds were transmitted to the female
during sexual intercourse. These seeds would then reassemble themselves in the mother’s
womb to form the infant. Think of this way, if a man had brown hair, big arms and blue eyes,
his semen would contain little seeds for brown hair, big arms and blue eyes. If the man had a
child, the invisible seeds he had would be deposited in the womb of the mother and the child
would then have brown hair, big arms and blue eyes.

Another way to understand Hippocrates theory is to imagine that a human being was composed
of building blocks. One building block was for their arm, one for their leg, one for their nose,
one for brown hair and so on. All these blocks that made up a human being were present in the
male semen as very small seeds. When these seeds would be transferred to the woman through
intercourse, these scattered building blocks would rearrange themselves and form another
human being in the womb.

The brick and mortar theory was widely accepted and remained uncontested until Aristotle
(384–322 BCE). One argument Aristotle made against the theory involved amputated men.
The health care during the time of the ancient Greeks was not good so men had to sometimes
lose limbs due to infections and injuries. Aristotle argued that these amputated men would not
have the invisible seeds for their amputated limbs. This would mean that the children of these
amputated men would lack limbs. However, this was not true as the children of these men had
a complete set of limbs.

Figure 1.1. Greek men who contributed to the debate on the inheritance of traits.
Hippocrates (A) and Aristotle (B) were two of the first people who openly discussed
the possible means for how traits are passed down from parents to their children.
(Source: Encyclopedia Britannica)

Another argument Aristotle made was that people were able to pass on traits you would not see
during conception and infancy but that would only appear later in life. A few examples would
be gray hair or baldness. If we believe Hippocrates theory, when men who had gray hair or
were bald had children, then their children should also have gray hair and be bald. However,
what they saw was that young children did not have any of these characteristics.

Aristotle instead theorized that the blood contained materials for building all parts of the body.
This blood was also the main agent for passing on traits from parents to children. Aristotle
stated that semen was simply purified blood and that menstrual blood was its female equivalent.
These hereditary essences found in blood influenced the development of the baby as opposed
to Hippocrates theory which implied the seeds became the organs and tissues of the baby.
Unfortunately, it was Hippocrates theory that was believed and Aristotle’s ideas were ignored
until the middle of the 20th century.

Changes in ideas on heredity and evolution

During the 17th and 18th century, the concept of preformation was prevalent. Microscopes
were already developed during this time. They looked at sperm cells and imagined that
miniature humans were found in the head of these sperm. These miniature humans would then
develop inside a mother’s womb and form the baby. They called this little infant a
homunculus.
 Figure 1.2. The homunculus by Nicolas Hartsoeker. Hartsoeker’s drawing of “the
little infant” inside the sperm head is the most recognizable representation of the
preformation theory of human development. The “little infant” was called a
homunculus. (Source: Hartsoeker, 1694)

In the early 19th century, Jean-Baptiste Lamarck, a French naturalist, introduced the idea of
“the inheritance of acquired traits” as a way to explain evolution of species. Scientists at the
time believed that species were fixed and there were no changes throughout the generations.
Lamarck theorized that the traits of species were constant because the environment they were
in was constant and unchanging. He made the Law of Use and Disuse, which stated that when
some organs become specially developed as a result of some environmental need, then the state
of development is hereditary and can be passed on to their progeny. One example Lamarck
used were giraffes. He stated that giraffes were originally from deer-like animals. However,
because the food they needed was found up in the trees, they constantly had to stretch their
neck. As they grew older, their necks also grew longer. When they reproduced, their stretched
neck passed on to the next generation, progressively getting longer and longer, eventually
leading to the creation of giraffes after several generations (Figure 1.3.B).

Figure 1.3. Jean-Baptiste Lamarck and his theory on inheritance. Lamarck (A) created the Law
of Use and Disuse to explain how favoured traits were inherited. His example using giraffes (B)
tried to show how new species could be created by continuous inheritance of acquired traits over
a span of time. (Source: A: Encyclopedia Britannica, B: Nakazawa, 2018)

With the concept of evolution being a hot topic among scientists in the 19th century, British
naturalist Alfred Russel Wallace originally postulated the theory of evolution through natural
selection in 1858. It was a paper he published with Charles Darwin. Unfortunately, it was
Charles Darwin who is more famous for his ideas on natural selection.
There were three important factors that contributed to the birth of modern genetics. Two of
those were works done by contemporaries Charles Darwin and Gregor Johann Mendel. The
third contributing factor was the developments being made in early cell biology.

Charles Darwin: Evolution and natural selection

Charles Darwin, an English naturalist, was the son of a country doctor. Unlike his father and
older brother, Darwin was more interested in collecting biological specimens instead of
medicine. It was due to this interest that he dropped out of medical school in Edinburg and
went to Cambridge instead. There he became a student of the botanist John Henslow. Darwin
was very much attached to his mentor and was always found near him. It was actually Henslow
who recommended him for the position of naturalist on the HMS Beagle. Darwin had not been
considered for the position but luck was on his side. It was during his travels with the HMS
Beagle that Darwin was able to formulate what most people would consider his greatest
contribution to science.

Figure 1.4. Proponents for the theory of evolution through natural selection.
Alfred Russel Wallace (A) and Charles Darwin (B) were the first scientists who
proposed the theory of evolution through natural selection but it was mostly Darwin
who was credited for it. (Source: Encyclopedia Britannica)

Darwin spent five years (from 1831-1836) on this voyage across the South American coasts.
He documented the things he saw and collected samples from all over. He sent them back home
and scientists welcomed all the specimens he sent them. Darwin continued his research and
developed his theory of evolution through natural selection using his findings. Darwin
eventually published “On the Origin of the Species by Means of Natural Selection, or The
Preservation of Favored Races in the Struggle for Life” in 1859. Many people simply call
this “On the Origin of the Species”. Simply put, Darwin stated that the best adapted
characteristics of parents are those that get carried over to their children. Over time, these new
characteristics combined leading to the birth of a new species. It was the observations Darwin
made during his journey on the HMS Beagle that provided him with the evidence he needed
for his theory on natural selection. He suggested that humans and animals shared common
ancestry.

Darwin’s main problem with his theory was that he lacked a mechanism for inheritance of these
“best adapted traits”. He developed a theory called pangenesis, something quite similar to
Hippocrates old theory on inheritance. He proposed that cells in the body produced gemmules
that were collected in the reproductive organs. The father’s gemmules blended with the
mother’s gemmules in order to form the baby. A Scotsman, Fleeming Jenkin, raised the issue
of blending and said that if traits did blend then after several generations, natural selection
would have no effect and evolution would stop at that point. Natural selection had a premise
that it had to be the best adapted trait that was passed on and not a trait that was blended from
an organism’s parents. Darwin continued to search for a proper mechanism for inheritance.
Little did he know that the answers to his questions were already being answered in a very
unlikely place several miles away.

Figure 1.5. Darwin’s theory of pangenesis. Darwin proposed the theory of

pangenesis as a mechanism for inheritance. (Source: Mccomas. (2012). The
American Biology Teacher, 74(2): 86-91)

Gregor Mendel: Breakthroughs from a most unlikely place

One of Darwin’s contemporaries was Gregor Johann Mendel, an Austrian monk from an
Augustinian monastery in Brüun in Moravia, which would now be modern day Czech
Republic. While the likes of Darwin had been contemplating their theories at the Royal Society
of London, little did people know that historic and landmark research was being done in this
little known abbey.

It was actually a string of coincidences that led Mendel to the path of discovering the things he
did. The monastery was unique from other monasteries and emphasized scholarly pursuits over
prayer. They did not forbid the monks from engaging in the sciences and the arts. This was the
perfect environment for Mendel who was very interested in breeding. Mendel had originally
been breeding albino mice with pigmented mice to see how the pigments were inherited. He
was housing these animals in his rooms in order to keep an eye on the animals properly. It
started becoming a problem when the smell of the animals could no longer be contained. The
bishop was also concerned that watching the mice mate was a temptation that monks didn’t
really need given their celibate lifestyle. The abbot came to an agreement with Mendel that he
had to let the mice go but he was free to work in the garden instead.

Figure 1.6. Gregor Johann Mendel. Mendel was

an unlikely source of what would be ground-
breaking research in the field of genetics. He did
not use any complicated equipment that was
present at the time but he was able to correctly
deduce some concepts of inheritance using
mathematics. (Source: Encyclopedia Britannica)

Mendel started working on common pea plants sometime in the 1850s. He studied specific
traits and used probabilities to determine inheritance patterns. He came up with two main ideas,
the Law of Segregation and the Law of Independent Assortment. This will be discussed
further in Unit 2 of the module. In 1865, Mendel proceeded to present his work to the Brüun
Natural History Society. He published his paper entitled “Experiments in Plant Hybridization“
in the Society’s proceedings. Unfortunately, his study was overlooked and forgotten. Mendel
became abbot of the monastery a few years later. His papers after his initial work on pea plants
had been burned and we would never know what other things he might have discovered in his
years of study.

Recall Darwin’s theory of pangenesis. Darwin proposed that traits had blended and were then
inherited but Mendel thought differently. Mendel’s work showed that traits were distinct and
were also inherited independently of each other. His paper had been distributed to scientists
but due to his vocation as a monk, many did not take him seriously. It was difficult for Mendel’s
work to be recognized because he was under the shadow of Darwin who was always present
within the circle of scientists in the Royal Society of London. It would take almost 40 years
before Mendel’s work would gain the recognition it deserved. Funnily enough, when Darwin
was thinking about his own methods of inheritance, he actually received a copy of Mendel’s
work through the mail. Darwin was a well sought after scholar so we can already guess the
amount of letters and papers he received on the daily. Mendel’s paper was buried under all the
other parcels he received. It would always be interesting to think what Charles Darwin would
have thought, had he read Mendel’s paper during that time.

The tiny world revealed through cell biology

The development of the microscope was one of the most important events that helped develop
early cell biology. In 1665, Robert Hooke used the microscope to observe small compartments
in cork and other plants. He called these compartments cells because he was reminded of the
small dwellings of monks called cellula. Antony van Leeuwenhoek also reported observing
single-celled organisms under the microscope at the same time. Leeuwenhoek called what he
saw animalcules or small animals. Improvements on the light microscope also allowed further
developments in cell biology.

Figure 1.7. Scientists who contributed to the early cell biology developments. Hooke (A) and
Leeuwenhoek’s (B) work on the microscope was instrumental in the development of the concept of
the cell. The cell theory formulated by Schleiden (C) and Schwann (D) helped define what cells
were. (Source: A, C, D: Encyclopedia Britannica, B: Painting by Jan Verkolje)

In 1838-1839, German botanist Mathias Schleiden and German physiologist Theodor

Schwann proposed the cell theory. This theory stated that all life were composed of cells and
that all cells came from pre-existing cells. It was originally believed that cells arose
spontaneously - the concept of spontaneous generation - but studies done by microbiologist
Louis Pasteur disproved this.

One of the major advances was made when scientists were able to detect chromosomes and
understand the principles of cell division. They described chromosomes as colored bodies when
they were first reported in the 1840s by Karl Wilhelm von Nägeli in plants and by Edouard
Van Beneden in animals. The word “chromosome” was coined much later. Walther Flemming,
Anton Schneider and Eduard Strasburger contributed studies that showed how chromosomes
were duplicated during cell division, how each daughter cell received the same number of
chromosomes, how gametes contained half the number of chromosomes compared to an adult
cell, how fertilization involved the fusion of the nuclei of the sperm and egg and finally, how
the resulting zygote had the full chromosome set.

In 1876, Oscar Hertwig speculated that the chromosomes were involved in the hereditary
transmission of traits. In 1883, Wilhelm Roux stated the same thing. August Weissmann soon
developed the “germ plasm” theory where germ cells transmit the hereditary information
through the chromosomes while somatic cells are involved in bodily functions. He further
stated that the germ plasm is found in the germ cells while somatoplasm was found in somatic
cells. For around 20 decades, despite being able to see chromosomes under the microscope,
scientists could not deduce the laws of inheritance that had originally been proposed by
Mendel.
It was in 1900 that three people were able to independently rediscover and replicate Mendel’s
results, the Dutch botanist Hugo de Vries, the Austrian Erich von Tschermak and the German
Carl Correns. Only then were Mendel’s findings fully appreciated. It was at the same time that
the English biologist William Bateson read Mendel’s work and became an advocate. He
translated Mendel’s paper into English and dubbed the new field “Genetics”. He was also the
person who introduced terms like allele, zygote, heterozygote and homozygote. It was during
this time that genetics truly emerged as a field of its own.

Why should we study genetics?

Simply stated, genetics is the study of genes. Genetics began with trying to understand how
hereditary information in DNA is passed on to future generations. It then expanded to include
trying to understand how that hereditary information affects how an organism looks like and
how it functions. The way they originally studied genes made use of mutants. These mutant
are genetic variants. They have mutations in the DNA that affect the original function of DNA.
The functions of several genes were determined by using these mutants. Some mutants were
naturally occurring but scientists had developed methods in which to introduce different
mutations into a model organism’s genome. Some methods made spontaneous mutations and
scientists simply hoped that mutant would be made while some made use of targeted
mutagenesis methods where scientists purposely modified genes in order to make them non-
functional. The need to understand the function of genes led to one of the most ambitious
scientific undertakings near the end of the last century – the sequencing of the human genome.
Scientists in so many institutions all over the world took part in this endeavour. It was a project
that began in 1990 and was only finished in 2003. Now, knowledge of the human genome
sequence as well as tools for gene function analysis makes it much easier to determine the uses
of genes.

Genetics itself is no longer a stand-alone field of biology. All biology is now gene-centered.
Every biologist has knowledge of genetics and how it applies to their respective fields.
Advances in genetics have led to a range of experimental approaches that have many
applications in many fields of biology. Genetics is an important part of molecular biology, cell
biology, population studies and even archaeology to name a few. But what is the importance
of genetics to the average person?

Genetics can help explain why some people are more prone to certain diseases compared to
others. It can also help researchers develop new technologies that can be used to treat disease.
Knowledge of genetics can even help identify the parents of children and identify the identities
of criminals or victims of crimes. DNA can be used as evidence in a crime. They can help
health care professional identify genetic conditions found in newborns or even before infants
are delivered. The way scientists have applied genetics made it possible for even normal people
to reap the benefits of the advances made in the field.