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Many characteristics (traits) are due to heredity, that is,
passed on from one generation to the next
Genes and genomes
• We know that genes control the way an organism develops,
grows and functions.
• We know that DNA is the molecule of life that encodes the
information on which organisms are built.
• A gene is defined as a unit of heredity made up of a unique
sequence of DNA.
• The whole set of genes in an organism, whether a bacterium,
mushroom, eucalypt tree or wallaby (see page 232), is a genome.
• Nearly all genes provide instructions for making a particular
polypeptide chain—a chain of amino acids, which determines the
primary structure of a protein
Genes and DNA
DNA molecule is a double helix, made up of a series of chemical
building blocks, called nucleotides, that form a polynucleotide chain.
• Each nucleotide consists of:
a phosphate group,
a fivecarbon sugar (deoxyribose) and
one of four nitrogencontaining bases: adenine (A), guanine (G),
thymine (T) and cytosine (C).
The bases A and G are purines, because they have a double ring
structure; T and C are pyrimidines, with a single ring.
• Nucleotides and their particular bases can occur in any order within
a strand: if a particular base is A, the next base in the sequence could
be A, G, T or C.
• There is direct pairing between A and T, and between G and C in
the DNA molecule (the basepairing rule).
This complementary base pairing results in two polynucleotide
strands joining together to form the double stranded
DNA molecule. An A of one strand pairs with a T in the other, and a
G of one strand pairs with a C in the other.
Given the base sequence of one strand we can determine the sequence
of the other.
• The two ends of a polynucleotide strand are referred to as the 5'
(five prime) and 3' (three prime) ends.
The 5' end has a free phosphate group and the 3' end has a free
hydroxyl group.
The two strands of a DNA molecule are referred to as being
antiparallel, meaning that one strand runs 5' → 3' and the other
3'→ 5'.
1
Genes vary in size from
about 100 to 2.5 million
base pairs. The length of
the sequence of DNA and
the precise order of the
base pairs in a gene are
the critical factors that
determine what the gene
product (nearly always a
polypeptide) will be like
and what it will do in a
cell.
DNA and genes are packaged into chromosomes
In eukaryotic cells, darkstaining threadlike structures,
chromosomes, are located in the nucleus. Chromosomes consist of
DNA and therefore carry genes. They constantly change their
appearance during the life of a cell and come in various shapes and
sizes.
The DNA molecule is extremely long.
In humans, for example, the average DNA molecule is about
6.5 × 107 base pairs in length.
The nucleus of a
human cell is just 6 μm (6 × 10–6 m) in diameter, yet it contains
1.8 m of DNA. This is because the DNA is tightly packaged into
chromosomes.
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Each gene has a position on a chromosome
• Each DNA molecule contains many genes; for example, there are
5 770 genes in the fungus yeast and about 25 000 in humans.
• Each gene has a particular position, called a locus, on a specific
chromosome.
• The genes of each DNA molecule are separated by regions called
spacer DNA.
Spacer regions include DNA that does not encode a protein
product.
Spacer regions may function in spacing genes apart so that
enzymes or other molecules can interact easily with them.
Chromosome Numbers
The body (somatic) contain the Diploid (2n) number of
chromosomes
For humans 2n = 46
There are 23 pairs of chromosomes, one of each pair coming from
each parent.
Reproductive cells (gametes) contain a single unpaired set of
chromosomes the Haploid (n) number
For humans n = 23
DNA replication
See text ( pages 234 235) and handout sheets
Note
• The process is semiconservative each new DNA molecule
contains a new strand and a parental strand.
• Note the role of the Helicase, DNA polymerase and Ligase
enzymes and that the replication process is more complex on the
lagging (3' to 5') strand of the original DNA molecule.
• 'Proof reading enzymes' check that the nucleotide sequence is
correct and correct any errors. Mutations (changes in the DNA
sequence) only occur if these checking mechanisms fail.
3
Gene Expression Transcription and Translation
Read pages 236 to 241 Text and the information on your Handout on
Transcription and Translation.
Remember the DNAinteractive video is available on the Biology
Homepage or at www.dnai.org
Gene regulation
Some genes are expressed continuously
Genes that encode proteins that are required constantly in cells are
often expressed continuously, therefore transcription and translation
are occurring most of the time. These genes are the socalled
‘housekeeping’ genes.
They produce the proteins required for the basic functions of cells
such as provision of energy, passage of molecules across the cell
membrane, maintenance of cellular organelles and cell division.
Switching genes on and off
Gene regulation involves processes that control gene expression,
turning a particular gene ‘on’ or ‘off’. Some genes are controlled by
other genes. The environment of a cell can also affect gene
expression. Protein geneproducts or ions may bind to DNA, or
physical factors such as temperature may influence gene expression.
In plants, genes that encode for the photosynthetic system are only
expressed when there is sufficient light for photosynthesis to occur.
See extension page 244