University of Rijeka

Faculty of Medicine

Genes and their functions

(seminar paper)

Mentor: dr. sc. Arijana Krikovi

Student: Mihaela Gredelj,

1st year, general medicine

Rijeka, 2015.

CONTENTS

1. Introduction.........1
2. What is a gene?.....................................................................................................2
2.1. Structure and variation..2
3. Discovery of inherited units.3
4. Genes and chromosomes.....5
5. Genes and enzymes..6
6. Gene function in eukaryotes.7
7. Conclusion...8
8. Summary..9
9. References..10

1. INTRODUCTION
Perhaps the most fundamental property of all living things is the ability to reproduce. All
organisms inherit the genetic information specifying their structure and function from their
parents. Likewise, all cells arise from preexisting cells, so the genetic material must be
replicated and passed from parent to progeny cell at each cell division. [1]
A gene is the molecular unit of heredity of a living organism. Genes hold the information to
build and maintain an organism's cells and pass genetic traits to offspring. All organisms have
genes corresponding to various biological traits, some of which are instantly visible, such
as eye color or number of limbs, and some of which are not, such as blood type, increased risk
for specific diseases, or the thousands of basic biochemical processes that comprise life. The
word gene was coined by Wilhelm Johannsen in 1909. [2]

2. WHAT IS A GENE?

A gene is the basic physical and functional unit of heredity. Genes, which are made up of
DNA, act as instructions to make molecules called proteins. The average length of a gene
usually ranges between 600 and 1800 nucleotides. In humans, genes vary in size from a few
hundred DNA bases to more than 2 million bases. The Human Genome Project has estimated
that humans have between 20,000 and 25,000 genes.
Every person has two copies of each gene, one inherited from each parent. Most genes are the
same in all people, but a small number of genes (less than 1 percent of the total) are slightly
different between people. Alleles are forms of the same gene with small differences in their
sequence of DNA bases. These small differences contribute to each persons unique physical
features. [3]

2.1. STRUCTURE AND VARIATION

Genes are arranged linearly. Also, stable characteristic of each gene is that it always occupies
the same place or the same part of the DNA molecule. This physical location of a particular
gene is referred to as gene locus.
Alleles are result from a mutation of a certain form of the corresponding parent gene ("wildtype" gene), which is usually the most common. The alleles are distinguished from each other
only by one or more pairs of nitrogenous bases (or triplets) of which depend on the extent and
nature of their functional differences. If the observed gene has only two options, it is a pair of
alleles, while three or more variants of the same gene are labeled as multiple alleles. Four
blood group AB0-system (A, B, AB and 0) are genetically controlled by one gene. The gene
occurs in three major allele variants. This property is controlled by multiple alleles.
Pleiotropic gene is a gene that causes a number of distinct but seemingly unrelated phenotypic
effects. [4]

Genes cause monogenetic traits and polygenetic traits. Monogenetic traits are traits produced
by the effect of a gene or an allele. Polygenetic traits are traits that are controlled by a group
of genes. [5]
3. DISCOVERY OF INHERITED UNITS

The classical principles of genetics were deduced by Gregor Mendel in 1865, on the basis of
the results of breeding experiments with peas. Mendel studied the inheritance of a number of
well-defined traits, such as seed color, and was able to deduce general rules for their
transmission. In all cases, he could correctly interpret the observed patterns of inheritance by
assuming that each trait is determined by a pair of inherited factors, which are called genes.
One gene copy (called an allele) specifying each trait is inherited from each parent. The
parental strains each have two identical copies of the gene specifying yellow (Y) or green (y)
seeds, respectively. The progeny plants are therefore hybrids, having inherited one gene for
yellow seeds (Y) and one for green seeds (y). All these progeny plants (the first filial, or F1
generation) have yellow seeds, so yellow (Y) is said to be dominant and green (y) recessive.
The genotype (genetic composition) of the F1 peas is thus Yy, and their phenotype (physical
appearance) is yellow. If one F1 offspring is bred with another, giving rise to F2 progeny,
the genes for yellow and green seeds segregate in a characteristic manner such that the ratio
between F2 plants with yellow seeds and those with green seeds is 3:1. [1]
According to Mendel's laws distinguish:
a) monohybrid cross- the mating of two individuals, organisms, or strains that have
different alleles for only one specific trait or in which only one particular characteristic
or gene locus is being followed
b) dihybrid cross- the mating of two individuals, organisms, or strains that have different
gene pairs that determine two specific traits or that have two particular characteristics
or gene loci being followed
c) intermediate inheritance- inheritance in which the phenotype of the heterozygote falls
between that of either homozygote [4]

Mendel's findings were ignored until 1900 when Mendel's laws were rediscovered and their
importance recognized. Shortly thereafter, the role of chromosomes as the carriers
of genes was proposed.

4. GENES AND CHROMOSOMES

The

fundamentals

of mutation,

genetic

linkage,

and

the

relationships

between genes and chromosomes were largely established by experiments performed with the
fruit fly, Drosophila melanogaster.
In the early 1900s, a number of genetic mutations were identified in Drosophila, usually
affecting readily observable characteristics such as eye color or wing shape. Breeding
experiments indicated that some of the genes governing these traits are inherited
independently of each other, suggesting that these genes are located on different
chromosomes that segregate independently during meiosis. Other genes, however, are
frequently inherited together as paired characteristics. Such genes are said to be linked to each
other by virtue of being located on the same chromosome. The number of groups of
linked genes is the same as the number of chromosomes, supporting the idea that
chromosomes are carriers of the genes. [1]

5. GENES AND ENZYMES

Early genetic studies focused on the identification and chromosomal localization of genes that
control readily observable characteristics, such as the eye color of Drosophila. How
these genes lead to the observed phenotypes, however, was unclear. The first insight into the
relationship between genes and enzymes came in 1909, when it was realized that the inherited
human disease phenylketonuria results from a genetic defect in metabolism of the amino
acid phenylalanine. This defect was hypothesized to result from a deficiency in the enzyme
needed to catalyze the relevant metabolic reaction, leading to the general suggestion
that genes specify the synthesis of enzymes. The conclusion from many experiments was that
each gene specified the structure of a single enzyme - the one gene - one enzyme hypothesis.
Many enzymes are now known to consist of multiple polypeptides, so the currently accepted
statement

of this

hypothesis

is

that each

single polypeptide chain. [1]

gene specifies

the

structure of a

6. GENE FUNCTION IN EUKARYOTES

In classical genetics, the function of genes has generally been revealed by the altered
phenotypes of mutant organisms. The advent of recombinant DNA has added a new
dimension to studies of gene function. Namely, it has become possible to investigate the
function of a cloned gene directly by reintroducing the cloned DNA into eukaryotic cells. In
simpler eukaryotes, such as yeasts, this technique has made possible the isolation of molecular
clones corresponding to virtually any mutant gene. In addition, there are several methods by
which cloned genes can be introduced into cultured animal and plant cells, as well as intact
organisms, for functional analysis. These approaches can be coupled with the ability to
introduce mutations in cloned DNA in vitro, extending the power of recombinant DNA to
allow functional studies of the genes of more complex eukaryotes. [1]

7. CONCLUSION

A gene is the basic physical and functional unit of heredity. Genes hold the information to
build and maintain an organism's cells and pass genetic traits to offspring.
Alleles are result from a mutation of a certain form of the corresponding parent gene ("wildtype" gene), which is usually the most common.
There are pair of alleles, while three or more variants of the same gene are labeled as multiple
alleles.
Genes cause monogenetic and polygenetic traits.
Mendel discovered the dominant and recessive characteristics, phenotype and genotype.
The experements with the Drosophila discovered linked genes- genes that are inherited
together with the other gene(s) as they are located on the same chromosome.
Each gene specifies the structure of a single polypeptide chain.
The function of genes has been revealed by the altered phenotypes of mutant organisms.

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8. SUMMARY

A gene is the molecular unit of heredity of a living organism. The average length of a gene
usually ranges between 600 and 1800 nucleotides. Genes are arranged linearly. Physical
location of a particular gene is referred to as gene locus. Pleiotropic gene is a gene that causes
a number of distinct but seemingly unrelated phenotypic effects. Monogenetic traits
are traits produced by the effect of a gene or an allele. Polygenetic traits are traits that are
controlled by a group of genes. The classical principles of genetics were deduced by Gregor
Mendel in 1865, on the basis of the results of breeding experiments with peas. According to
Mendel's laws distinguish: monohybrid cross, dihybrid cross and intermediate inheritance.
The

fundamentals

of mutation,

genetic

linkage,

and

the

relationships

between genes and chromosomes were largely established by experiments performed with the
fruit fly, Drosophila melanogaster. The conclusion from many experiments was that
each gene specified the structure of a single enzyme - the one gene - one enzyme hypothesis.
In classical genetics, the function of genes has generally been revealed by the altered
phenotypes of mutant organisms.

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9. REFERENCES:

1. Cooper GM, Hausman RE; The cell A Molecular Approach. 4 th edition;

Sunderland, MA; Sinauer Associates, Inc. 2007.
2. Wikipedia. Gene.
Available at http://en.wikipedia.org/wiki/Gene Accessed May 25, 2015.
3. Genetics Home Reference. What is a gene?
Available at http://ghr.nlm.nih.gov/handbook/basics/gene Accessed May 25, 2015.
4. The Free Dictionary. Medical Dictionary.
Available at http://medical-dictionary.thefreedictionary.com/
Accessed May 25, 2015.
5. Biology online. Dictionary.
Available at http://www.biology-online.org/dictionary/Polygenic_trait
Accessed May 25, 2015.

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