Genes and
Chromosomes
Mendel’s Pea Plants
• Genes are physical and functional traits that are
passed on from one generation to the next.
• They were discovered by Gregor Mendel in the
1860s while he was experimenting with the pea
plant.
• Mendel’s Question: Do traits come from a blend of
both parent’s traits or from only one parent?
Mendel’s Pea Plants
• Mendel discovered that genes were passed on to offspring
by both parents in two forms: dominant and recessive.
• The dominant form would be the phenotypic characteristic
of the offspring.
DNA: The Building Blocks of Genetic
Material
• DNA was later discovered to be the molecule that makes up the
inherited genetic material.
• Experiments performed by Fredrick Griffith in 1928 and experiments
with bacteriophages in 1952 led to this discovery.
• DNA provides a code, consisting of 4 letters, for all cellular function.
• Cytosine: represented by C
• Adenine: represented by A
• Guanine: represented by G
• Thymine: represented by T
DNA Mutations
• DNA can be thought of as a sequence of the nucleotides:
C,A,G, or T.
• What happens to genes when the DNA sequence is
mutated?
Normal
Mutated
The Good, the Bad, and the Silent
• Mutations can serve the organism in three ways:
• The Good: A mutation can cause a trait that enhances the organism’s
function: Mutation in the sickle cell gene provides resistance to malaria.
• The Bad: A mutation can cause a trait that is harmful, sometimes fatal to
the organism: Huntington’s disease, a symptom of a gene mutation, is a
degenerative disease of the nervous system.
• The Silent: A mutation can simply cause no difference in the function of
the organism.
Genes are Organized into Chromosomes
• Chromosomes are threadlike structures found
in the nucleus of the cell which are made from
a long strand of DNA.
• Different organisms have a different number of
chromosomes in their cells.
• Thomas Morgan (1920s): Found evidence that
genes are located on chromosomes by genetic Thomas Morgan
experiments performed with flies.
The White-Eyed Male Fruitfly
Mostly male progeny
White-eyed male
X
Mostly female progeny
Red-eyed female (normal)
• These experiments suggest that the gene for eye color must be linked or
co-inherited with the genes that determine the sex of the fly. This means
that the genes occur on the same chromosome. (It turned out to be the
X chromosome.)
Linked Genes and Gene Order
• Along with eye color and sex, other genes, such as body color and wing size,
had a higher probability of being co-inherited by the fruitfly offspring genes
are linked.
• Morgan hypothesized that the closer the genes were located on the a
chromosome, the more often the genes are co-inherited.
• By looking at the frequency that two genes are co-inherited, genetic maps can
be constructed for the location of each gene on a chromosome.
• One of Morgan’s students, Alfred Sturtevant, pursued this idea and studied
three fly genes:
How are Genes Ordered on a
Chromosome?
Mutant b, mutant vg
17% progeny The genes vg and bare
X farthest apart from each
Normal fly have only one other.
mutation
Mutant b, mutant cn 9% progeny have
X only one
Normal fly mutation
The gene cn is close to both
Mutant vg, mutant cn vg and b.
8% progeny have
X only one
Normal fly mutation
How are Genes Ordered on a
Chromosome?
• Order of the genes on chromosome determined by
the experiments.
b cn vg
Genetic Information: Chromosomes
① Double helix DNA strand.
② Chromatin strand (DNA with histones).
③ Condensed chromatin during interphase with centromere.
④ Condensed chromatin during prophase.
⑤ Chromosome during metaphase.
Chromosomes
Organism Number of base pair number of Chromosomes
Prokayotic 1
Escherichia coli (bacterium) 4x106
Eukaryotic
Saccharomyces cerevisiae (yeast) 1.35x107 17
Drosophila melanogaster(insect) 1.65x108 4
Homo sapiens(human) 2.9x109 23
Zea mays(corn) 5.0x109 10
Sexual Reproduction
• Formation of new individual by a combination of two haploid sex cells
(gametes).
• Fertilization: combination of genetic information from two separate cells that
have one half the original genetic information.
• Gametes for fertilization usually come from separate parents
• Female: produces an egg
• Male: produces sperm
• Both gametes are haploid, with a single set of chromosomes.
• The new individual is called a zygote, with two sets of chromosomes (diploid).
• Meiosis is a process which converts a diploid cell to a haploid gamete, and
causes a change in the genetic information in order to increase diversity in the
offspring.
Meiosis: two successive nuclear divisions with
only one round of DNA replication.
• First Division of Meiosis:
• Prophase 1: Each chromosome duplicates and remains closely associated. These are
called sister chromatids. Crossing-over can occur during the latter part of this stage.
• Metaphase 1: Homologous chromosomes align at the equatorial plate.
• Anaphase 1: Homologous pairs separate, with sister chromatids remaining together.
• Telophase 1: Two daughter cells are formed, with each daughter containing only one
chromosome from the homologous pair.
• Second Division of Meiosis: Gamete formation
• Prophase 2: DNA does not replicate.
• Metaphase 2: Chromosomes align at the equatorial plate.
• Anaphase 2: Centromeres divide and sister chromatids migrate separately to each
pole.
• Telophase 2: Cell division is complete. Four haploid daughter cells are obtained.
• One parent cell produces four daughter cells: half the number of chromosomes
found in the original parent cell.
• Crossing over causes genetic differences.
Meiosis