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The three areas of Genetics
1. Classical Genetics
Started with Mendel's work on inheritance of physical characteristics in
pea plants (Pisum sativum), this is primarily the study
of chromosomal theory. It is also known as "transmission genetics."
Gregor Mendel worked in the 1850's-60's on the inheritance
of physical characteristics in the edible pea (Pisum sativum).
He published his works in 1866.
- Carl Correns (Germany)
- Erich von Tschermak (Austria)
- Hugo De Vries (Holland)
...rediscovered Mendel's work in the early 1900's.
Mendel worked on DISCONTINUOUS, or QUALITATIVE CHARACTERS.
("either/or" traits, such as red vs. white
flowers; wrinkled vs. smooth peas, etc.)
Until his work, much study of inheritance had been devoted to CONTINUOUS
CHARACTERS (e.g., size, stature, brain volume etc.) which are
far more difficult to characterize genetically, as they are usually
controlled by more than one gene locus (i.e., they are polygenic).
2. Molecular Genetics
This is the study of the genetic materials (DNA and RNA) themselves,
including
- chemical structure (I hope you've all had Organic Chemistry!)
- replication
- change (mutation = any change in a gene)
- function (gene expression)
3. Evolutionary Genetics
This is the study of the mechanisms of evolutionary change on
a genetic level. It includes both
Be sure you know the meaning/significance of the
following already-familiar terms:
zygote
diploid; haploid; ploidy
prokaryote
eukaryote
gamete
gene
genotype
phenotype - characters may be
- DISCONTINUOUS/QUALITATIVE
- CONTINUOUS/QUANTITATIVE
allele
- dominant allele: one which masks the expression
of another at the same locus
- recessive allele: one whose expression is masked
by another at the same locus
The Genome - the organism's basic complement of DNA
Most organisms have TWO COPIES of the genome, one from each parent, and
are thus DIPLOID.
When one considers genes, it is most usually at the level of a single
locus at a time. With respect to a single gene locus, be sure to recall
the terms:
Homozygous: carrying two of the same allele at a
given locus.
Heterozygous: carrying two different alleles at
the same locus.
In eukaryotes, the genome is borne on a chromosomes, the number and
conformation of which is species specific.
ONE SET OF CHROMOSOMES carries ONE COPY OF THE GENOME.
Hence, diploid organisms have TWO SETS OF CHROMOSOMES, each set carrying
the same gene loci, though not necessarily the same alleles at each
locus.
Two chromosomes (each from one of the two sets; one from mom, and one from
dad) that have exactly the same array of gene loci are HOMOLOGOUS.
When a cell divides during MEIOSIS, the two homologs separate, and each
daughter cell (destined to become a gamete) receives only one of each
homologous pair.
Let's have a look at a picture to refresh our memory.
Recall The Central Dogma:
DNA is transcribed into RNA
RNA is translated into protein
Recall the difference between structural and enzymatic proteins
Recall the meaning of primary, secondary, tertiary and quaternary structure
of proteins
Obviously, much has been learned about how genetic information is
transferred from generation to generation since Mendel's time.
Methods of Study in Genetics (from coarse-grained to fine-grained):
- Identification and isolation of phenotypic variants (mutants) in a population.
- Controlled matings between individuals of known phenotype/genotype.
- Study of biochemical pathways (and the effects of mutations on them).
- Physical analysis of chromosome structure via labeling and
microscopic examination.
- Analysis of the DNA molecule itself (via various techniques).
- genomics - the sequencing of entire genomes
- bioinformatics - the use of computers and analytical methods
applied to the study of the function of gene-encoded proteins
The genes
are known to be located on a large, complex helix-shaped molecule known as
DeoxyriboNucleic Acid - DNA.
The information encoded on the DNA is in the form of an "alphabet" of
nucleotide bases, Adenine, Guanine, Cytosine and Thymine.
A diploid cell contains TWO COPIES of the organism's GENOME (entire
complement of DNA); a haploid cell contains only one copy.
The genome itself is assembled into a structure called a
CHROMOSOME.
- In prokaryotes, there is usually a single, circular chromosome lacking
any associated proteins or other molecules.
- In eukaryotes, the genome is divided among multiple chromosomes which
are not circular, but linear. The number of chromosomes varies with
species--and it is NOT necessarily true that the most complex or most
derived species have the most chromosomes! It is the information encoded
on the chromosomes that makes each species unique.
And while we're on the subject, we are going to hear more about the
words "primitive" and "derived". So let's define them now...
- primitive - relatively unchanged from an ancestral form.
- derived - relatively changed from an ancestral form.
Be sure you know and understand these terms!
The Central Dogma: DNA is transcribed into RNA (RiboNucleic Acid) and
translated into protein. (As we'll see later, the Central Dogma isn't all that
hard and fast any more.)
A protein is a chain of amino acids, and is also called a POLYPEPTIDE.
Genetics touches every aspect of your life, and all of human existence.
Control of genes is a major goal of many humans--for good or ill. The
practice of applying genetic technology to commercial use is known as
BIOTECHNOLOGY.
Since humans became an agricultural species, we have sought to improve our
domestic crops and livestock via selective breeding or ARTIFICIAL SELECTION.
When a particularly desirable individual or strain is selected, the farmer
may plant a crop that consists of these desirable individuals, and all are
nearly genetically identical. This is a MONOCULTURE.
While monocultures can be advantageous and productive, they also introduce
pitfalls of which we must be aware:
- homozygosity at multiple, deleterious loci
- equal susceptibility to pathogens or parasites
LOSS OF GENETIC DIVERSITY CAN LEAD TO RUIN.
Humans seek to manipulate genes in an effort to improve quality of human
life:
MOLECULAR GENETIC ENGINEERING - The manipulation of microbe DNA to
produce bacteria which synthesize products useful to humans (such as
insulin, hormones, etc.)
A TRANSGENIC cell is one which has permanently acquired foreign DNA
that allows it to synthesize products it could not otherwise synthesize.
Genetics are also put to use in crime-solving: DNA "fingerprinting" is
the process of comparing DNA at a crime scene with that of a suspect. It
can't positively identify a suspect, but it can give a statistical
likelihood that a particular suspect shares the DNA of a crime scene.
Genetics and medicine go hand in hand.
With the data rolling in from the Human Genome Project (the participating
labs have until the early years of this century to finish!), faulty
genes can be identified that are responsible for heritable disorders such
as muscular dystrophy, Huntington's disease, cystic fibrosis, etc.
The study of DNA cannot be done without MODEL ORGANISMS: non-human
species that can be used to study genes and gene expression in the hopes
that they might be similar enough to human genes and gene expression to
allow extrapolation. Such species include mice, fruit flies
(Drosophila melanogaster, yeast and other easy-to-handle organisms
that have relatively short generation times.
In your text, review the meanings and significance of
- genetic dissection (figuring out how genes work by studying how
faulty *mutant* versions affect the function of the organism.
- genetic markers (easy-to-find forms of genes that can be used to track
inheritance; a "reporter" gene is a gene marker that can be identified by
function, rather than appearance. A popular reporter is the luciferase
gene from fireflies, which has been transplanted into everything from mice
to tobacco! Why do this? When the organism starts to glow, you know that
the section of DNA into which the luciferase gene was inserted has been
"turned on." This can tell us a lot about development and gene expression
during various phases of embryonic development.
We now know that there are tremendous differences in the ways that
prokaryotic and eukaryotic DNA is transcribed and translated. For example,
eukaryotic cells have INTRONS--portion of transcribed DNA which are
removed from the mRNA transcript before translation.
Until relatively recently, most study was done on nuclear DNA. We now know
that chloroplasts and mitochondria also have DNA, separate and different
from the nucleus. Mitochondria are maternally inherited in almost all
species. Plastid DNA's (mtDNA and cpDNA) can have a profound influence on
an organism's phenotype and function.