Gregor Mendel -
the father of genetics
- Mendel's
experiments with pea plants marked the beginning of genetics, the scientific
study of heredity.
P - the parent generation; F1 - the offspring of P; F2 - the offspring
of the F1 generation
- Mendel's
model for determining traits in offspring is the Punnett Square
- Mendel
found that factors (genes) transmit information about traits from parents
to their offspring. The different forms of genes are called alleles.
- In
Mendel's theory, an offspring has two factors for each trait ... one from
mom and one from dad.
- Note:
we will work on constructing and interpreting Punnett Squares in classroom
activities. |
sample Punnett Square
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Basic Genetics Terms
(there
will be more on the worksheets):
Recessive:
A gene that when paired with a normal gene at the same location on the
chromosome, will be dominated by the normal gene, and will not influence
the appearance of the animal.
Dominant:
A gene that when paired with either a recessive or another dominant gene
at the same location on the chromosome, will dominate and will influence
the appearance of the animal.
Heterozygous:
Genes are inherited in pairs, one from each parent. When an animal receives
genes from each parent at the same site on the chromosome that are different,
the animal is Heterozygous.
Homozygous:
When an animal receives genes from each parent at the same site on the
chromosome that are the same, the animal is Homozygous. When an animal
receives two recessive genes at the same site on the chromosome, they will
influence the appearance of the animal.
Phenotype:
The appearance of an animal as a result of the genes inherited.
Genotype:
The genetic makeup of an animal, including recessive genes that do not
affect the appearance of the animal.
Modes of Inheritance
- some modes involve only a single gene, while others involve multiple
genes.
Single-locus
inheritance
- Autosomal Dominant
- Autosomal Recessive
- Co-dominant
- Sex-linked
Examples: hemophilia, color blindness, Duchenne Muscular dystrophy
Multiple-locus
inheritance -
these types of inheritance involve multiple genes
1. Modifier genes
2. Polygenic additive
3. Threshold traits
4. Variable expression
5. Incomplete penetrance
6. Polygenic recessive or dominant
7. Mixed polygenic
All the instructions needed
to direct cell activities are contained within the chemical DNA(deoxyribonucleic
acid).
DNA from all organisms is made
up of the same chemical and physical components. The DNA sequence is the
particular side-by-side arrangement of bases along the DNA strand (e.g.,
ATTCCGGA). This order spells out the exact instructions required to create
a particular organism with its own unique traits.
The genome is an organism’s
complete set of DNA. Genomes vary widely in size: the smallest known genome
for a free-living organism (a bacterium) contains about 600,000 DNA base
pairs, while human and mouse genomes have some 3 billion. Except for mature
red blood cells, all human cells contain a complete genome.
DNA in the human genome is arranged
into 24 distinct chromosomes--physically separate molecules that range
in length from about 50 million to 250 million base pairs. (note: though
there are 23 pairs, the last pair of sex chromosomes may be different (X,Y)
... so there are 24 different types).
A few types of major chromosomal abnormalities,
including missing or extra copies or gross breaks and rejoinings (translocations),
can be detected by microscopic examination. Most changes in DNA, however,
are more subtle and require a closer analysis of the DNA molecule to find
perhaps single-base differences.
Each chromosome contains many
genes, the basic physical and functional units of heredity. Genes are specific
sequences of bases that encode instructions on how to make proteins. Genes
comprise only about 2% of the human genome; the remainder consists of noncoding
regions, whose functions may include providing chromosomal structural integrity
and regulating where, when, and in what quantity proteins are made. The
human genome is estimated to contain 30,000 to 40,000 genes.
Although genes get a lot of
attention, it’s the proteins that perform most life functions and even
make up the majority of cellular structures. Proteins are large, complex
molecules made up of smaller subunits called amino acids. Chemical properties
that distinguish the 20 different amino acids cause the protein chains
to fold up into specific three-dimensional structures that define their
particular functions in the cell.
Each time a cell divides, its
full genome is duplicated so that each daugher cell has a complete set
of the original DNA. For humans and other complex organisms, this
duplication occurs in the nucleus. During cell division the DNA molecule
unwinds and the weak bonds between the base pairs break, allowing the strands
to separate. Each strand directs the synthesis of a complementary new strand,
with free nucleotides matching up with their complementary bases on each
of the separated strands. Strict base-pairing rules are adhered to adenine
will pair only with thymine (an A-T pair) and cytosine with guanine (a
C-G pair). Each daughter cell receives one old and one new DNA strand.
The cells adherence to these base-pairing rules ensures that the new strand
is an exact copy of the old one. This minimizes the incidence of errors
(mutations) that may greatly affect the resulting organism or its offspring.
Note: DNA will continue to be covered in the
next three to four sections of this course
History of DNA
1865 - Gregor
Mendel describes "unit of heredity"
1869 - Friedreich
Miescher isolates "nuclein" (DNA) from trout fish from the Rhine.
1903 - Walter
Sutton proposes that chromosomes contain genetic material
1908 - T.H.Morgan
proposes that genes can mutate, based on work with Drosophila
1927 - Muller
discovers x-rays induce mutations in chromosomes.
1941 - Beadle
& Tatum propose "one gene - one enzyme" hypothesis.
1944 - Avery,
MacLeod, McArty show DNA is "transforming" agent (e.g., genetic material)
1952 - Alfred
Hershey & Martha Chase demonstrate that DNA contains genetic material
1953 - Postulation
of complimentary, double helical structure for DNA (by Watson & Crick)
1960 - Discovery
of messenger RNA
1966 - Establishment
of complete genetic code
1973 - Eukaryotic
genes cloned in bacterial plasmids
1977 - DNA
sequencing becomes possible - X174 virus
1984 - Human
Genome project first started - projected to take 20 years and cost $4,000,000,000.
1993 - First
clinical trials for gene therapy in humans started in England
1995 - First
complete bacterial genome sequenced
1997 - Cloning
of "Dolly the sheep"…. |
Protein Synthesis

- Protein synthesis is a 2 part process that
involves RNA and DNA.
- DNA -> transcription -> RNA -> translation
-> Protein
- RNA (ribonucleic acid) differs from DNA
in three ways
1 - The sugar units
in RNA are ribose as compared to DNA's deoxyribose.
2 - RNA does not
bind to the nucleotide base Thymine, but to Uracil (U) instead
(RNA also contains the other three bases: A, C and G)
3 - RNA exists as
a single-stranded molecule. Because of the extra hydroxyl group on
the sugar, RNA is too bulky to form a a stable double helix like DNA.
- After the processes of transcription and
translation are complete, we are left with a protein.
- Proteins are made of 20 types of amino
acids linked in a certain sequence.
Step 1: Transcription: RNA is made, using DNA as
a template
- In the first step of protein synthesis,
the 2 DNA strands in a gene that codes for a protein unzip from each other.
- Similar to the way DNA replicates itself,
a single strand of messenger RNA (mRNA) is then made by pairing up mRNA
bases with the exposed DNA nucleotide bases.
- After the mRNA is manufactured, it travels
to the ribosomes.
Step 2: Translation: mRNA controls the synthesis
of a polypeptide
- In the ribosomes, the mRNA code is translated
into a transfer RNA (tRNA) code which, in turn, is transfered into a sequence
of amino acids (a polypeptide, or protein sequence).
- In this process, each codon will pair
with an anticodon
- codon - a 3 nucleotide sequence
in mRNA that specifies a certain amino acid
- anticodon - complimentary tRNA
base triplet to a codon
- Each tRNA is specific to an amino acid
- As tRNA's are added to the sequence, amino
acids are linked together by peptide bonds
- This eventually forms a protein that is
later released by the tRNA.
Protein synthesis is done in different ways for prokaryotes
and eukaryotes.
- Prokaryotic protein synthesis occurs rapidly,
since the DNA is not separated from the ribosomes. Also, repressor
proteins regulate transcription.
- Eukaryotes' DNA is held within the nucleus.
So the mRNA has to be modified in order to leave the nucleus and enter
the cytoplasm (where translation occurs). The genes, which are fragmented,
contain a series of sequences called exons and introns. Exons are
portions of a gene that are translated into proteins, while introns are
the noncoding areas of DNA.
Something to think about ... (critical thinking
question on the test?)
Why would the cell want to have an
intermediate between DNA and the proteins it encodes?
1.
The DNA can then stay in its original condition ... protected from the
harsh chemistry of the cytoplasm.
2.
Gene information can be amplified by having many copies of an RNA made
from one copy of DNA.
3.
Regulation of gene expression can be effected by having specific controls
at each element of the pathway between DNA and proteins. The more elements
there are in the pathway, the more opportunities there are to control it
in different circumstances.
We will experimentally
analyze the inheritance of one trait in a selected organism as a classroom
activity.
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