Genetics: A Short History Help

By Dr. Rob DeSalle

At the dawn of the 20th century, when the writings of an Austrian monk named Gregor Mendel
were rediscovered, genetics became a science.

Notions of heredity and inheritance were already prevalent. Having domesticated plants and
animals, people realized that in many cases, "like begat like." Herdsmen and farmers selectively
bred plants such as wheat and maize without understanding the underlying mechanisms.
People seemed to grasp intuitively that attributes could be passed from one generation to the
next.

The 1800s saw several revolutions in the biological sciences. Charles Darwin transformed the
way humans look at the natural world by introducing the theory of natural selection. Darwin
got a lot right, but not when it came to heredity. About the only thing he understood was that
both parents contribute to their offspring. Mendel was rumored to have sent his writings to
Darwin, but Darwin either disagreed with the papers or simply did not understand their
significance.

Mendel, besides being fond of growing thingspeas in particularhad an astounding talent for
observation. In 1857, Mendel began to study the mechanisms of inheritance while working with
two varieties of garden peas from the genus Pisum, one with a yellow seed and one with a
green seed. First he crossed a parent purebred for yellow seeds with a parent purebred for
green seeds. All of the offspring gave yellow seeds. (This first cross is called the F1, or filial cross,
and the offspring are called F1s.) This observation was nothing new. Many traits in plants and
animals seem to be swamped by other traits. But Mendel somehow reasoned that the green
trait did not get alteredit was just hidden.

So he took the F1s and crossed them, probably reasoning that the green trait would come back.
He counted the peas in all the offspring (called F2s) and observed that 6,022 F2s were yellow
and 2,001 F2s were green. Do the math, and you, like Mendel, will recognize a 3:1 ratio.

This observation by itself would not have meant much, but Mendel's scientific thinking led him
to do several other crosses, with these results:

Table 1: The Results of Mendels Crossing Experiments
Trait Number of Plants Having Trait in F2 Trait Number of Plants Having Trait in F2
Round Seed 5,474 Wrinkled Seed 1,850
Gray Seed Coat 705 White Seed Coat 224
Green Pods 428 Yellow Pods 152
Inflated Pods 882 Constricted Pods 299
Long Stems 787 Short Stems 277
Axial Flowers 651 Terminal Flowers 207

Do the math again and you recognize a trendall the ratios are 3:1. Controllers of these traits
(the genes) were coming from the two parents, and when the F1s were mated, the controllers
were "segregating" in a random fashion. Based on these observations, Mendel described his
first law, the Law of Segregation. The two versions of a gene segregate and are distributed to
different sex cells.

Even more remarkably, he constructed all possible combinations of two of the seven traits
together (the six listed above, plus the green or yellow seeds). The real kicker came when he
crossed the yellow and smooth F1s with each other and counted the number of offspring. There
are four possible combinations of these two traits of seed color and textureyellow round
seeds, yellow wrinkled seeds, green round seeds, and green wrinkled seeds. The ratio of the
numbers of F2 with these traits was: 9 yellow round seeds to 3 yellow wrinkled seeds to 3 green
round seeds to 1 green wrinkled seed. Mendel reasoned that mating the F1 plants with these
two traitsseed color and texturewas like throwing the controllers of each of the traits into
separate hats, and mating the F2 plants was like randomly drawing the controllers out of the
hats. While the choices are random, the outcome is remarkably regular. This second
observation is known as the Law of Independent Assortment. Each member of a pair of
chromosomes segregates independently of the members of other pairs, so that alleles carried
on different chromosomes are distributed randomly to the sex cells.

Some feel that Mendel anticipated his results. Others have gone so far as to suggest that
Mendel even cheated by massaging the numbers in his crosses. Two things are sure: Mendel
was extremely observant, and he was RIGHT.

Unfortunately, Mendel's observations disappeared as readily as those traits in the F1. Luckily
for the world, Carl Correns, Hugo de Vries, and Erich von Tschermak-Seysenegg rediscovered his
writings, including his 1865 paper "Experiments in Plant Hybridization," at the turn of the 20th
century, and the science of genetics was born.

Mendel's laws explain a lot, but more had to be clarified. What is a gene? What is it made from?
How are traits stored? How do different versions of a gene arise? How can exceptions to
Mendel's laws be explained? Throughout the 20th century, exceptional scientists such as
Thomas Hunt Morgan, George Beadle, Edward Tatum, Sydney Brenner, Barbara McClintock,
and a host of other geneticists looked for systems that could help them understand more about
heredity. They looked for organisms that grew rapidly and that could produce large populations
whose traits could be counted the way Mendel had done with his peas. Initially called "genetic
pets," these plants and animals are now called "model systems" and they have become the
focus of present-day genome-sequencing projects. Bacteria, yeast, nematode worms,
Drosophila (fruit flies), mice, Arabidopsis weed (mustard plant), rice, and corn are all model
systems.

Humans have also been the subjects of genetic studies. Of course, scientists can't grow humans
in petri dishes or in fly bottles. Even if humans could be bred like flies or worms, ethical
considerations would prohibit it. So geneticists have devised other methods for examining the
genetics of humans. They include pedigree analyses and twin studies, both of which help
demonstrate the genetic component to a trait.

Concepts such as the gene and one gene/one protein were developed, and genetics dovetailed
with molecular biology and biochemistry. Traits are inherited through confined units called
genes. Genes code for proteins, or as was once taught, one gene codes for one protein.
Nowadays we know that one gene can code for a variety of similar proteins. Over the last few
decades, the discipline of genetics has changed from a science that described and investigated
the inheritance patterns of certain traits to a science that primarily investigates inheritance at
the molecular level.

The central discovery might be considered the elucidation in 1953 of the structure of the
genetic materialdeoxyribonucleic acid (DNA). The ultimate data set could most certainly be
considered the entire genome sequence of an organism. The first complete genomes to be
sequenced in the 1970s were from viruses, and contained about 5,000 base pairs. Next, in the
mid-1990s, came bacterial genomes with about 2 million base pairs. In comparison,the human
genome, with more than 3 billion base pairs, has now been completely sequenced in almost
two-dozen humans. In addition, clever shortcuts to generating human-genome-level
information have contributed to an unprecedented understanding of our genomes and our
biology.

While it's tempting to think that genome sequences represent the ultimate explanation of
genetics, to grasp the importance of any discovery we must always return to the laws that
Mendel discovered.

Image: https://d396qusza40orc.cloudfront.net/amnhgenetics/images/genetics/W1E2_1.jpg
Gregor Mendel
Mendel was a pioneer in genetics and a parish priest in the collegiate church at Altbrnn,
located in what is now the Czech Republic. National Library of Medicine
Image: https://d396qusza40orc.cloudfront.net/amnhgenetics/images/genetics/W1E2_2.jpg
Pea plant, genus Pisum
In 1857, Mendel began to study the mechanisms of inheritance while working with two
varieties of garden peasone with a yellow seed and one with a green seedfrom the genus
Pisum. Kurt Stueber
Image: https://d396qusza40orc.cloudfront.net/amnhgenetics/images/genetics/W1E2_3.jpg
Translating Genes into Proteins
DNA is transcribed into messenger RNA (mRNA). The mRNA carries genetic information to the
ribosome. The ribosome translates the genetic code and produces a protein. AMNH
Related Links
Mendel's Paper: "Experiments in Plant Hybridization"
This site provides the complete, annotated version of Gregor Mendel's 1865 paper
"Experiments in Plant Hybridization."

DNA from the Beginning: Classical Genetics
Brush up on the basics of genetics; concepts such as inheritance, including the characteristics
and function of genes, are explained with insightful animations.

Reflections on the Mendelian Paradox
Read this article about the psychological, historical, and ethical considerations about the
Mendelian Paradox.

Genetic Science Learning Center
A good site for students, teachers, and families on fundamental genetic concepts, genetic
disorders, and the relationship between genetics and society.

Genetics in Context: A Comparative Timeline
Breakthroughs in genetics didn't occur in a vacuum. Explore the historical and cultural times in
which genetic discoveries were made.