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School of Arts and Sciences

Department of Biological and Chemical Sciences

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BIOL 365 – Genetics

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Introduction

• Genetics is concerned primarily with understanding biological

properties that are transmitted from parent to offspring.

• The subject matter of genetics includes

1. heredity
2. the molecular nature of the genetic material
3. the ways in which genes (which determine the characteristics of
organisms) control life functions
4. the distribution and behavior of genes in populations

! Genetics is central to biology because gene activity underlies all

life processes, from cell structure and function to reproduction.
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Learning Objectives

1. Learning what genes are

2. how genes are transmitted from generation to generation
3. how genes are expressed
4. and how gene expression is regulated

 is the focus of this course

Classical and Modern Genetics

• Humans recognized long ago that offspring tend to resemble their parents.

• Humans have also performed breeding experiments with animals and plants
for centuries.

• However, the principles of heredity were not understood until the mid-
nineteenth century, when Gregor Mendel analyzed quantitatively the results
of crossing pea plants that varied in easily observable characteristics.

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The father of genetics

Studied the transmission characters of pea

Classical and Modern Genetics

House where Gregor Mendel was born

• He published his results, but their significance

was not realized in his lifetime.

• Several years after his death, however,

researchers realized that Mendel had discovered Gregor Mendel's research garden at St Thomas' Abbey
fundamental principles of heredity.
 We now consider Mendel’s work to be the
foundation of modern genetics.
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Classical and Modern Genetics

• Mendel’s experiment in the late 19th century showed that a

gene is a discrete chemical entity (unit of heredity) that is
capable of changing.

• Subsequent experiments in the early to middle of the 20th

century showed that chemical entity is a nucleic acid, most
commonly DNA.

Classical and Modern Genetics

• Since the turn of the twentieth century, genetics has been an increasingly
powerful tool for studying biological processes.

• An important approach used by many geneticists is to work with

mutants of a cell or an organism affecting a particular biological process:
by characterizing the differences between the mutants with normal cells
or organisms, they develop an understanding of the process.

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Classical and Modern Genetics

• Now the genomics revolution is occurring  That is, the
complete genomic DNA sequences have been determined
for many viruses and organisms, including humans.
• Of course, it is natural for us to focus on the human
genome.
• For example, eventually we will understand the structure
and function of every gene in the human genome. Such
knowledge will lead to a better understanding of human
genetic diseases and contribute significantly to their cures.

• The science-fiction scenario of each of us carrying our

DNA genome sequence on a chip will become reality in the
near future.
! However, knowledge about our genomes will raise social
and ethical concerns that must be resolved carefully.
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The Subdisciplines of Genetics

Geneticists often divide genetics into four major subdisciplines:

1. Transmission genetics (sometimes called classical genetics) is the

subdiscipline dealing with
 how genes and genetic traits are transmitted from generation to generation
 and how genes recombine (exchange between chromosomes).
Example: Analyzing the pattern of trait transmission in a human pedigree or in
crosses of experimental organisms is an example of a transmission genetics study.

2. Molecular genetics is the subdiscipline dealing with

 the molecular structure and function of genes.
Example: Analyzing the molecular events involved in the gene control of cell
division, or the regulation of expression of all the genes in a genome, are examples
of molecular genetics studies. Genomic analysis is part of molecular genetics.
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The Subdisciplines of Genetics

3. Population genetics is the subdiscipline that studies
heredity in groups of individuals for traits that are
determined by one or only a few genes.

Example: Analyzing the frequency of a disease-causing gene in

the human population is an example of a population genetics
study.

4. Quantitative genetics also considers the heredity of traits in

groups of individuals, but the traits of concern are
determined by many genes simultaneously.

Example: Analyzing the fruit weight and crop yield in

agricultural plants are examples of quantitative genetics studies.
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The Subdisciplines of Genetics

Although these subdisciplines help us think about genes from different perspectives,
there are no sharp boundaries between them.

Historically,

Transmission Population Quantitative Molecular

Genetics Genetics Genetics Genetics

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Basic and Applied Research

Genetics research, and scientific research in general, may be either basic or

applied.
1. In basic research, experiments are done to gain an understanding of
fundamental phenomena
For example, we know how the expression of many prokaryotic and eukaryotic
genes is regulated as a result of basic research on model organisms such as the
bacterium Escherichia coli and the fruit fly Drosophila melanogaster

 The knowledge obtained from basic research is used largely to fuel more
basic research.

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Basic and Applied Research

2. In applied research, experiments are done with different goals in mind;

namely, with an eye toward overcoming specific problems in society or
exploiting discoveries.

For example, In agriculture, applied genetics has contributed significantly to

improvements in animals bred for food (such as reducing the amount of fat in
beef and pork) and in crop plants (such as increasing the amount of protein in
soybeans).

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Basic and Applied Research

• There is no sharp dividing line between basic and applied research.

• Indeed, in both areas, researchers use similar techniques.

• For example, recombinant DNA technology—procedures that allow

molecular biologists to splice a DNA fragment from one organism into DNA
from another organism and to clone (make many identical copies of) the new
recombinant DNA molecule—has profoundly affected both basic and
applied research

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Examples

• In the area of plant breeding, recombinant DNA technology has

made it easier to introduce traits such as disease resistance from
noncultivated species into cultivated species.

• In animal breeding, recombinant DNA technology is being used in

the beef, dairy, and poultry industries, for example, to increase the
amount of lean meat, the amount of milk, and the number of eggs.

• In medicine, the results are equally impressive. Recombinant DNA

technology is being used to produce a number of antibiotics,
hormones, and other medically important agents such as clotting
factor and human insulin and to diagnose and treat a number of
human genetic diseases.
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Genetic Databases and Maps

In this section, we talk about two important resources for genetic

research: genetic databases and genetic maps.

Genetic Databases
We can consider a set of important and extremely useful genetic
databases at the National Center for Biotechnology Information
(NCBI) website (http://www.ncbi.nlm.nih.gov).

NCBI was created in 1988 as a national resource for molecular

biology information. Its role is to “create public databases, conduct
research in computational biology, develop software tools for
analyzing genome data, and disseminate biomedical information—
all for the better understanding of molecular processes affecting
human health and disease.”
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Genetic Databases and Maps

- Some of the search tools available at the NCBI site are as follows:
• PubMed is used to access literature citations and abstracts and provides links
to sites with electronic versions of research journal articles.

These articles can sometimes be viewed, or you must pay a one-time fee or
obtain a free subscription. You search PubMed by entering terms, author names,
or journal titles.

! It is highly recommended that you use PubMed to find research articles on

genetic topics that interest you.
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Genetic Databases and Maps

• OMIM (Online Mendelian Inheritance in Man) is a database of

human genes and genetic disorders

• GenBank: This database is an annotated collection of all the

tens of billions of publicly available DNA sequences.

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Genetic Databases and Maps

• BLAST (Basic Local Alignment Search Tool) is a tool used to compare a nucleotide
sequence or protein sequence with all sequences in the database to find possible
matches.
For example, this is useful, if you have sequenced a new gene and want to find out
whether anything similar has been sequenced previously.

• Moreover, genes with related functions may be listed in the databases, allowing you to
focus your research on the function of the gene you are studying.

Query A list of “segment

sequence BLAST
pairs” between the
query and database
sequences
database
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Genetic Databases and Maps

• Entrez is a system for searching several linked databases.

• Books is a collection of biomedical books that can be searched directly. Included

are some genetics, molecular biology, and developmental biology textbooks. 31

Genetic Databases and Maps

Genetic Maps
Since 1902, much effort has been made to construct
genetic maps for the commonly used experimental
organisms in genetics. Road Map

Like road maps that show the relative locations of

towns along a road, genetic maps show the
arrangements of genes along the chromosomes and
the genetic distances between the genes.

The position of a gene on the map is called a locus

or gene locus.
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Genetic Databases and Maps

The genetic distances between genes on the same chromosome are calculated
from the results of genetic crosses by counting the frequency of
recombination—that is, the percentage of the time among the progeny that the
genes in the two original parents exchange (recombine)
The unit of genetic distance is the map unit (mu).

The goal of constructing genetic maps has been to obtain an understanding of

the organization of genes along the chromosomes (e.g., to inform us whether
genes with related functions are on the same chromosome; and if they are,
whether they are close to each other).

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Genetic Databases and Maps

Gene locus

The genetic distance

between genes on the same
chromosome are calculated
from the results of the
genetic crosses by counting
the frequency of
recombination

Unit of genetic distance: map unit (mu)

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Genetic Databases Maps

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Organisms for Genetics Research

The principles of heredity were first established in the nineteenth century by

Gregor Mendel’s experiments with the garden pea.

Since Mendel’s time, many organisms have been used in genetic experiments.

In general, the goal of the research has been to understand gene structure and
function. Because of the remarkable conservation of gene function throughout
evolution, scientists have realized that results obtained from studies with a
particular organism typically would apply more generally.

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Organisms for Genetics Research

• Genome projects are in progress in a range of different organisms, including humans and several model
organisms.

• The model systems are the same systems that have been intensively exploited for standard genetic analysis.

Organisms for Genetics Research

Among the qualities that historically have made an
organism a particularly good model for genetic Elephant Nematode (C.elegans)
experimentation are the following:
1. The organism has a short life cycle, so that a large
number of generations occur within a short time. In this
way, researchers can obtain data readily over many
generations. Fruit flies, for example, produce offspring in
10 to 14 days.
2. A mating produces a large number of offspring.
3. The organism should be easy to handle. For example,
hundreds of fruit flies can be kept easily in small bottles.
4. Most importantly, genetic variation must exist between
the individuals in the population or be created in the
population by inducing mutations so that the inheritance of
traits can be studied.
Both eukaryotes and prokaryotes are used in genetics
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Organisms for Genetics Research

The organism has a

short life cycle, so a
large number of
generations occur
within a short time

Qualities of a Genetic variation

A mating produces a
good model for must exist in the
large number of
a genetic same population or
offspring
experiment created by mutations

The organism
should be easy to
handle

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