27/09/2022

Genetics Review

Chapter 5

Mendel’s Investigations

⚫ Gregor Mendel was

the first to closely
examine principles
of heredity.
⚫ Mendel chose peas
to study inheritance
because they
possess several
contrasting traits
without
intermediates.

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Mendel’s Investigations

⚫ Mendel was not aware of the existence

of chromosomes or genes.
⚫ It is easier to get the big picture of
heredity by combining Mendel’s results
with what we know about chromosomes.

Meiosis

⚫ Meiosis is the special type of cell

division that produces eggs and sperm.
⚫ In meiosis, a diploid cell with two sets of
homologous chromosomes will divide so
that the daughter cells are haploid and
have one set of chromosomes.

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Meiosis

⚫ Chromosomes have replicated during

interphase just as in mitosis.
⚫ Meiosis actually consists of two separate
divisions.
⚫ Meiosis I – serves to separate the two
versions of the chromosome (homologues).
⚫ Meiosis II – serves to separate the two
replicas of each version (sister chromatids).

Meiosis

⚫ Because there is only one replication of

DNA but two cell divisions, each of the
four daughter cells is haploid – has only
one set of chromosomes.

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Fertilization

⚫ Fertilization – reestablishes the

diploid chromosome number.
⚫ Union of egg and sperm produces a
zygote (single cell).
⚫ Contains chromosomes of egg and

sperm – 2 sets of chromosomes

(diploid).

Meiosis I

⚫ Prophase I –
Chromosomes
become visible.
⚫ The 2 versions of
each chromosome
pair up and
exchange segments.
This is called
crossing over.
⚫ Late in prophase, the
nuclear envelope
disappears.

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Meiosis I

⚫ Metaphase I – Spindle apparatus forms.

⚫ Chromosomes line up in the middle.
⚫ Which chromosome faces which pole is
random. This is called independent
assortment.

Meiosis I

⚫ Anaphase I – The spindle is complete.

⚫ Homologues are pulled apart and move
toward opposite poles.
⚫ Sister chromatids NOT separated yet.
⚫ Each pole has half as many chromosomes
(one set rather than two) as the original cell.
⚫ Telophase I – the chromosomes gather
at the two poles and wait for the onset of
meiosis II.

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Meiosis II

⚫ After a brief interphase in which NO

DNA synthesis occurs, meiosis II
begins.
⚫ Meiosis II is just like mitosis except that
the sister chromatids are no longer
identical due to crossing over.

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Meiosis II

⚫ Prophase II – nuclear envelopes break

down as a new spindle forms.
⚫ Metaphase II – chromosomes line up in
the middle of the cell and spindle fibers
bind to both sides of the centromeres.

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Meiosis II

⚫ Anaphase II – spindle fibers contract

splitting the centromeres and moving the
sister chromatids to opposite poles.
⚫ Telophase II – The nuclear envelope
reforms around the four sets of daughter
chromosomes.

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Meiosis II

⚫ The resulting 4 daughter cells are

haploid.
⚫ No 2 cells are alike due to crossing over.
⚫ In animals, these cells develop directly
into gametes (eggs & sperm).
⚫ In plants, fungi & many protists they
divide mitotically to produce greater
numbers of gametes.

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Meiosis Review

http://www.youtube.com/watch?v=D1_-mQS_FZ0&list=FL9N_Px072WuVorSwDfqf-9w&index=55&feature=plpp_video

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Sex Determination
⚫ Sex chromosomes
vs. autosomes
⚫ Autosomes –
chromosomes
present in both
sexes, do not
influence sex.
⚫ In humans, females
have 2 X
chromosomes, while
males have and X
and a Y.

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Sex Determination

⚫ Some species have

XX females and X
males.
⚫ Others have ZZ
males and ZW
females.
⚫ In others, sex is
determined
environmentally.

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Mendel’s Laws

⚫ Mendel’s experiments with garden peas

resulted in his two laws of inheritance.
⚫ Law of segregation
⚫ Law of independent assortment

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Mendel’s Peas

⚫ The peas can self-fertilize or outcross.

⚫ Mendel could control who the parents were.
⚫ Mendel always started with true-
breeding parents.
⚫ E.g. self-fertilized white flowered parents
always produced white flowered offspring.

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Mendel’s Peas

⚫ He could cross true

breeding white with
true breeding purple
– this is the parental
generation.
⚫ Resulting in all
purple offspring –
this is the F1
generation.

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Mendel’s Peas

⚫ Allowing the hybrid

F1 generation to self
pollinate gives the
F2 generation with 3
purple: 1 white
offspring.
⚫ He kept careful
quantitative records
that allowed him to
find patterns.

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Mendel’s Law of Segregation

⚫ Mendel’s explanation of the 3:1 ratio of

purple (dominant) to white (recessive)
flowers resulted in the Law of
Segregation.

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Mendel’s Law of Segregation

⚫ Alternative versions of genes account for variations in
inherited characters.
⚫ Two versions of the flower color gene are purple &
white.
⚫ We now call these versions alleles.

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Mendel’s Law of Segregation

⚫ For each character, an organism inherits

two alleles, one from each parent.
⚫ Mendel deduced this without knowledge of
chromosomes!
⚫ If there are two different alleles present
only one of them – the dominant allele –
determines the appearance.

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Mendel’s Law of Segregation

⚫ Mendel’s Law of
Segregation – the two
alleles for a heritable
character separate during
gamete formation and end
up in different gametes.
⚫ Each egg or sperm will
contain either one of the
two alleles, but not both!

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Genetic Terms

⚫ Homozygous – both alleles are the

same.
⚫ PP homozygous dominant – purple flowers.
⚫ pp homozygous recessive – white flowers.

⚫ Heterozygous – two different alleles.

⚫ Pp heterozygous, shows dominant, purple
color.

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Genetic Terms

⚫ Genotype – the
alleles that are
actually present.
⚫ PP, Pp, pp
⚫ Phenotype – the
physical appearance
of the organism.
⚫ Purple or white
flowers.

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Genetic Terms

⚫ Monohybrid cross – crossing two

individuals that are heterozygous for one
particular trait.
⚫ Pp X Pp
⚫ Dihybrid cross – crossing two
individuals that are both heterozygous
for two separate traits.
⚫ YyTt X YyTt

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Genes

⚫ Gene gene product phenotypic expression

⚫ Gene products = proteins
⚫ Beadle & Tatum’s experiments using bread mold
led to the idea that one gene produces one
enzyme.
⚫ Today’s version: a nucleic acid sequence (usually
DNA) that encodes a functional polypeptide or
RNA sequence.

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Nucleic Acids

⚫ DNA and RNA both built of nucleotides

containing
⚫ Sugar (deoxyribose or ribose)
⚫ Nitrogenous base (ATCG or AUCG)
⚫ Phosphate group

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Nitrogenous Bases

⚫ Nitrogenous bases
can be double ringed
purines or single
ringed pyrimidines.

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Nitrogenous Bases

⚫ A purine will always pair with a pyrimidine.

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DNA

⚫ The phosphate
group and sugar
make up the
backbone of the
DNA molecule.

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DNA

⚫ The DNA backbone:

⚫ Phosphate groups and pentose sugars.
⚫ The 5' end of each strand has a free
phosphate group attached to the 5'
carbon of the pentose sugar.
⚫ The 3' end has a free hydroxyl group
attached to the 3' carbon of the pentose
sugar.

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DNA

⚫ DNA consists of two

complementary
chains connected by
hydrogen bonds.
⚫ A=T
⚫ C=G

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DNA

⚫ DNA synthesis occurs in

the 5' to 3' direction in
both strands.
⚫ The DNA strands are
antiparallel
⚫ 5' end of one is
associated with the 3'
end of the other.
⚫ The DNA ladder is
twisted into a double
helix
⚫ Ten base pairs occur
per turn.

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RNA

⚫ RNA exists as a single polynucleotide

chain.
⚫ Ribose
⚫ Uracil

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DNA Replication
⚫ DNA must replicate itself
prior to cell division.
⚫ Enzymes are responsible
for each step of replication,
including proofreading.
⚫ The helix unwinds,
separates, and each half
acts as a template for the
formation of a new
complementary strand.
⚫ Reaction catalyzed by
DNA polymerase.

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Gene Expression

⚫ Gene expression – the use of

information in DNA to direct the
production of particular proteins.
⚫ Transcription – first stage of gene
expression. A messenger RNA (mRNA) is
synthesized from a gene within DNA.
⚫ Translation – second stage – mRNA is
used to direct production of a protein.

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DNA Coding

⚫ DNA codes for

the sequence of
amino acids in a
protein.
⚫ A codon is
three base-pairs
long and is a
segment of
mRNA that
codes for an
amino acid.

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Transcription

⚫ Messenger RNA (mRNA) transcribes the

DNA and transports it out of the nucleus.

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Transcription

⚫ Before leaving the nucleus, segments of

mRNA called introns are removed and the
exons are spliced together.
⚫ Exons contain the information coding for the
protein that will be synthesized.

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Transcription Review

http://www.youtube.com/watch?v=OtYz_3rkvPk&list=FL9N_Px072WuVorSwDfqf-9w&index=47&feature=plpp_video

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Translation

⚫ Translation occurs on ribosomes

outside the nucleus.
⚫ mRNA attaches to a ribosome and
protein synthesis begins.

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Translation
⚫ Transfer RNA (tRNA)
collects free amino acids
from the cytoplasm and
delivers them to the
polysome (mRNA-
ribosome complex) where
they are assembled into a
polypeptide.
⚫ tRNA has a triplet – the
anticodon – that is
complementary to the
codon of mRNA.

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Translation Review

http://www.youtube.com/watch?v=5bLEDd-PSTQ&feature=autoplay&list=FL9N_Px072WuVorSwDfqf-9w&playnext=1

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Regulating Gene Expression

⚫ Cells control the expression of genes by

saying when they are transcribed, not
how fast.
⚫ Some regulatory proteins block the
binding of the polymerase, and others
facilitate it.

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Storage and Transfer of Genetic

Information
⚫ Regulation of Gene Expression in
Eukaryotes
⚫ As tissues differentiate, they use only a
part of the genetic instruction present
every cell.
⚫ In a particular cell or tissue most genes
are inactive at any given moment.

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Gene Mutations

⚫ Gene mutations result in an alteration of

the sequence of bases in the
DNA.
⚫ Harmful
⚫ Neutral

⚫ Beneficial

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The Importance of Genetic

Change
⚫ Evolution begins with alterations in the
genetic message.
⚫ Mutation creates new alleles
⚫ Gene transfer alters gene location

⚫ Recombination shuffles these changes

⚫ Chromosomal rearrangement alters the

organization of entire chromosomes.

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The Importance of Genetic

Change
⚫ Changes that result in the organism
leaving more offspring are often
preserved.
⚫ Other changes result in fewer offspring –
these changes are usually lost.
⚫ Genetic changes can only be inherited if
they occur in germ-line tissue!

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The Importance of Genetic

Change
⚫ Genetic change through mutation and
recombination provides the raw material
for evolution.

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