MITOSIS AND MEIOSIS
Why do cells divide? For growth,
repair, and reproduction
Mitosis
+ Organisms grow by the addition
of cells
+ In multicellular organism some
of these cells perform functions
different from other cells
+ The process of a cell becoming
different is differentiation
+ Under normal conditions, once
an animal cell becomes specialized
it can no longer form an entire
organism, however, plan cells are
totipotent, and any cell can form an
entire plant
When do cells divide? Most
limiting factor in size is the size of
the cell membrane. Cells must
obtain nutrients; As volume
increases, cell surface area does
not increase as greatly; Larger
cells require a larger surface area
for survival.
Cell Division vs. Nuclear
Division
+ Cytokinesis – the actual division
of the cell into two new cells
+ Mitosis – the division of the
nucleus of the cell into two new
nuclei
Note: Sometimes cells go through
mitosis without going through
cytokinesis
Terminology
+ Chromatin – thin fibrous form of
DNA and proteins
+ Sister chromatids – identical
structures that result from
chromosome replication, formed
during S phase
Anatomy of a Chromosome
+ Centromere – point where sister
chromatids are joined together
+ P-arm – short arm; upward
+ Q-arm – long arm; downward
+ Telomere – tips of chromosome
How do cells divide? Cell cycle is
the sequence of phases in the life
cycle of the cell. Eukaryotic cell
cycle: Mitosis, Gap 1 (cells that
cease division), S phase (DNA
synthesis), Gap 2
Getting Ready to Split
+ Cell cycle has two parts:
- growth and preparation
(interphase)
- cell division; mitosis
(nuclear division),
cytokinesis (cytoplasm
division)
Interphase
+ Occurs between divisions
+ Longest part of cycle
+ G1 or Gap 1 (5hrs)
- the cell just finished
dividing so in Gap 1 the
cell is recovering from
mitosis
+ S phase or Synthesis stage (7hrs)
- DNA replicates
+ G2 or Gap 2 (3hrs)
- this is preparation for
mitosis
- organelles are replicated
- more growth occurs
Prophase
+ Chromosome condenses
+ Microtubules form
+ The nuclear envelope breaks
down
Metaphase
+ Chromosomes are pulled to
center of cell
+ Line up along “metaphase plate”
Anaphase
+ Centromeres divide
+ Spindle fibers pull one set of
chromosomes to each pole
+ Precise alignment is critical to
division
Telophase
+ Nuclear envelope form and
chromosomes
+ Chromosomes uncoil
+ Cytokinesis
- animals – pinching of
plasma
- plants – elongates and the
cell plate forms (future cell
wall and cell membrane)
Meiosis
What is meiosis? A division of the
nucleus that reduces chromosome
number by half; Important in
sexual reproduction; Involves
combining the genetic information
of one parent with that of the other
parent to produce a genetically
distinct individual
Terminology
+ Diploid – two sets of
chromosomes (2n), in humans 23
pairs or 46 in total
+ Haploid – one set of
chromosomes (n), gametes or sex
cells, in humans 23 chromosomes
Chromosome Pairing
+ Homologous pair
- each chromosome in pair
are identical to the other
(carry genes for same trait)
 - only one pair differs – sex
chromosomes X or Y
Phases of Meiosis
+ A diploid cell replicates its
chromosomes
+ Two stages of meiosis
- Meiosis I and Meiosis II
- only 1 replication
Synapsis – pairing of homologous
chromosomes forming a tetrad
Crossing-over – chromatids of
tetrad exchange parts
Meiosis I
Prophase I
+ Chromosomes condenses
+ Homologous chromosomes pair
each other
+ Each pair contains four sister
chromatids – tetrad
+ Prophase is subdivided into five
sub stages:
- Leptonema – replicated
chromosomes (leptotene)
appear as long slender
threads
- Zygonema – pairing of
homologous chromosomes
(synapsis); The pair is
referred to as bivalent or
tetrad (zygotene)
- Pachynema –
chromosomes continue to
become shorter and thicker
(pachytene); A series of
exchange genetic material
can occur (crossing-over)
between specific regions
of the homologous
chromosomes
- Diplonema – the tetrad
tends to repel each other
(diplotene); Crossing-over
have taken place; Chiasma
is the area of contact
between two chromatids,
becoming distinct.
- Diakinesis – coiling and
contraction of the
chromosomes continue;
The bivalents migrate
close to the nuclear
membrane; The nucleolus
disappears, and the nuclear
membrane begins to break
down; Spindle apparatus
begins to form
Metaphase I
+ Tetrads or homologous
chromosomes move to center of
cell
Anaphase I
+ Homologous chromosomes
pulled to opposite poles
Telophase I
+ Daughter nuclei formed
+ These are haploid (1n)
Meiosis II
+ Daughter cells undergo a second
division; much like mitosis
+ No additional replication occurs
Prophase II
+ Spindle fibers form again
Metaphase II
+ Sister chromatids move to the
center
Anaphase II
+ Centromeres split
+ Individual chromosomes are
pulled to poles
Telophase II and Cytokinesis
+ Four haploid daughter cells
result from one original diploid
cell
Review Mitosis and Meiosis
+ Both are forms of nuclear
division
+ Both involve replication
+ Both involve disappearance of
the nucleus, and nucleolus, nuclear
membrane
+ Both involve formation of
spindle fibers
Differences
+ Meiosis produces daughter cells
that have ½ the number of
chromosomes as the parent. Go
from 2n to 1n
+ Daughter cells produced by
meiosis are not genetically
identical to one another
+ In meiosis cell division takes
place twice but replication occurs
only once
Value of Variation
+ Variation – differences between
members of a population
+ Meiosis results in random
separation of chromosomes in
gametes
+ Causes diverse populations that
over time can be stronger for
survival
MENDELIAN GENETICS
Gregor Mendel – father of genetics
Pea Characteristics
- Height
- Pod shape
- Pod color
- Seed shape
- Seed color
- Flower color
- Flower arrangement
Gametes – reproductive cells
produced by sexually reproducing
organisms
- Male gametes – sperm
- Female gametes – eggs
Fertilization – fusion of egg and
sperm
- Self-fertilized – fusion of
sperm and egg from same
plant
- Cross fertilized – fusion of
egg and sperm from two
different plants
Produced hybrids:
+ F1 – first generation
+ F2 – second generation
Genes – the hereditary information
that determines a single trait
Alleles – alternate forms of a gene
+ When an organism inherits two
identical alleles for a trait,
organism is said to be homozygous
for the trait (EE, ee)
+ When an organism inherits two
different alleles for one trait, the
organism is called heterozygous
for the trait (Ee)
Dominant vs. Recessive Allele
Dominant (E) – an allele that is
expressed whenever it is present
Recessive (e) – an allele that is
masked whenever the dominant
allele is present
+ Dominant and recessive alleles
influence an organism’s phenotype
Genotype – genetic makeup of an
individual. It is determined by the
alleles present for each trait
Phenotype – physical appearance
of a trait. It is the expression of the
genotype
+ Testcross is used to determine
the genotype of an individual
- Testcross – crossing an factors, one from each
organism with unknown parent
genotype with one that is F F
homozygous recessive for
f Ff Ff
the trait
f Ff Ff
+ Parents differ by a single trait
Fair skin
+ Crossing two pea plants that
differ in stem size, one tall one + Law of Segregation
short
- Each individual has a pair
T = allele for tall of factors controlling each
trait, one inherited from
t = allele for dwarf
each biological parent
TT = homozygous tall plant - During the formation of
gametes these two factors
tt = homozygous dwarf plant
separate. Only one ends up
Punnett Square in each sex cell
F F
+ A useful tool to do genetic
crosses f Ff Ff
+ For a monohybrid cross, you f Ff Ff
need a square divided by four
1:2:1 genotype
+ We use the Punnett square to 3:1 phenotype
predict the genotypes and
+ Law of Independent Assortment
phenotypes of the offspring
- When genetic factors
Mendel’s Laws
segregate in the gametes,
+ A scientific law is an evidence- they segregate
based description of a natural independently of one
phenomenon in a given set of another. A dominant allele
circumstances for one trait does not
guarantee inheritance of a
+ Mendel’s three Laws of Heredity dominant allele for a
describe what Mendel observed in different trait
patterns of inherited traits Height – Hh
Three Laws of Heredity Eye color – Ee
Mother – Hhee
+ Law of Dominance Father – HHEe
(FOIL method)
- Traits are controlled by
two factors that can be Non-Mendelian Law
called “dominant” or
“recessive” + Law of Incomplete Dominance
- A ‘dominant’ trait shows if - Neither trait is dominant or
the offspring inherits at recessive. A heterozygous
least one dominant factor individual is a blend of the
from one parent two traits (Ee)
- A ‘recessive’ trait shows *Red x White = Pink
only if the offspring
inherits two recessive
+ Law of Co-Dominance
- When both alleles are
expressed. Both are
dominant.
B B
W BW BW
W BW BW
*Dalmatian dog
Epistasis – one gene completely
masks another gene
*Pigment (C) or No pigment (c)
More pigment (black=B) or less
(brown=b)
Albino = cc
HHUMAN HEREDITY AND
SEX-LINKED DISORDERS
Human Chromosomes
+ Humans have 46 chromosomes
in their cells
+ Cell biologists analyze
chromosomes using karyotypes
Karyotype – a picture of
chromosomes arranged/grouped in
order in pairs
Sex-chromosomes vs. Autosomes
+ Two of our 46 chromosomes are
known as sex chromosomes,
because they determine a person’s
sex
+ Females have two copies of a
large X chromosome (XX) and
males have one X and one Y
chromosome (XY)
+ Females can only pass on an X
to a child and males pass on either
X or Y, determining the sex of a
baby
+ All human egg cells contain an X
chromosome, while ½ of the sperm
cells carry X’s and ½ carry Y’s
+ The remaining 44 chromosomes
(non-sex chromosomes) are known
as autosomal chromosome or
autosomes
+ The total number of
chromosomes in human cells
(autosomes and sex chromosomes)
is represented as: 46, XX for
females and 46, XY for males
Chromosomes 21 and 22
+ The smallest of human
autosomes chromosomes 21 and
22, were the first to be studied
+ Genetic disorders on
chromosome 22 are responsible for
one form of leukemia (cancer of
the blood) and neurofibromatosis,
a tumor causing disease of the
nervous system
+ Genetic disorders on
chromosome 21 include
amyotrophic lateral sclerosis
(ALS) or Lou Gehrig’s disease
Sex-linked Genes and Disorders
Sex-linked gene – gene located on
either the X or Y chromosome
+ Special patterns occur on each
sex chromosome
+ Because the X chromosome is
larger, it carries more sex-linked
genes and disorders
Types of Sex-linked Disorders
+ Colorblindness – sex-linked
disorder in which an individual
can’t perceive certain colors. It is
passed to offspring on the X
chromosome
- If an X carries the
recessive allele for
colorblindness it may or
may not be expressed in a
female but will be
expressed in a male
- Males receive one X
chromosome, so all X-
linked alleles are
expressed even if they are
recessive
- Sex-linked genes move
from fathers to daughters
and from those daughters
to their sons
+ Hemophilia – sex-linked
disorder in which the blood is
unable to clot because it lacks a
certain protein
- It is caused by a point
mutation and is carried on
the X chromosome, so it
usually affects males
+ Duchenne Muscular Dystrophy –
sex-linked disorder that results in
the progressive weakening and loss
of skeletal muscle
- Affected muscle tissue
starts to break down during
childhood
- Is carried on the X
chromosome and is caused
by a defective version of a
gene that codes for a
muscle protein
Dominant, Recessive, and
Chromosomal Disorders
+ All genetic info, including
human disorders, is in the Human
Genome (our complete set of
genetic info)
Recessive Alleles and Disorders
Recall: Recessive alleles aren’t
expressed in heterozygous
individuals
+ Disorders caused by recessive
alleles don’t affect a carrier’s
health but may be passed on to
offspring
Types of Recessive Disorders
+ Phenylketonuria (PKU) – genetic
disorder in which the body lacks
the enzymes to break down the
amino acid phenylalanine (in milk
and other foods). Can be tested and
treated
Result: Phenylalanine builds up in
the tissues causing severe nerve
damage and possible mental
retardation
+ Tay-Sachs Disease – a fatal
genetic disorder that causes lipids
to accumulate in the brain when
the body fails to break them down
- Appears frequently in
Jewish families of
central/eastern European
ancestry
Result: Nervous system breakdown
including: blindness, brain
damage, and eventually death in
the first few years of life. Has no
cure
*A defective gene on chromosome
15 (HEX-A) causes Tay-Sachs
disease. This defective gene causes
the body to not make a protein
called hexosaminidase A. Without
this protein, chemicals called
gangliosides build up in nerve cells
in the brain, destroying brain cells
+ Cystic Fibrosis (CF) – common
genetic disorder in which the body
produces excessive secretions of
thick mucus
- Appears frequently in
people whose ancestors
came from Northern
Europe
Result: Malfunction of tissues in
the body and mucus accumulation
in the digestive tract (digestive
difficulty) and in the lungs
(breathing difficulty)
*Cystic fibrosis is a progressive,
genetic disease that causes
persistent lung infections and
limits the ability to breathe over
time. In people with CF, mutations
in the cystic fibrosis
transmembrane conductance
regulator (CFTR) gene cause the
CFTR protein to become
dysfunctional
+ Albinism – genetic disorder in
which individuals have no skin
hair or eye pigment
*Occurs in all races
+ Galactosemia – genetic disorder
in which galactose (a sugar)
accumulates in tissues
Result: Mental retardation, eye and
liver damage
Dominant Alleles and Disorders
Recall: Dominant alleles are
always expressed in a person’s
phenotype, ex: freckles, widow’s
peak, farsightedness, broad lips,
and polydactyly (extra/long
fingers/toes)
+ If passed on, dominant disorders
usually kill the offspring before
he/she is capable of reproduction
+ For this reason, dominant
disorders are very rare
Types of Dominant Disorders
+ Huntington’s Disease – a fatal
genetic disorder in which the
nervous system gradually
deteriorates, especially the brain
Result: Progressive loss of muscle
control and mental function until
death occurs
- Signs of the disease show
up later in life (late 30’s or
40’s)
*Huntington’s disease is a
relatively rare fatal inherited
condition that gradually kills off
healthy nerve cells in the brain,
leading to loss of language,
thinking and reasoning abilities,
memory, coordination and
movement
+ Achondroplasia – a form of
dwarfism
*Achondroplasia is the most
common form of short-limb
dwarfism, a disorder in which bone
tissue does not develop properly,
especially the long bones of the
arms and legs. Affects about 1 in
25,000 individuals of all ethnic
groups
+ Hypercholesterolemia – genetic
disease in which a person has
excess cholesterol in the blood
Result: Heart disease
Codominant Alleles and
Disorders
+ Codominant alleles are both
expressed at the same time
Types of Codominant Disorders
+ Sickle Cell Disease – genetic
disease in which one allele causes
a change in the shape of normal
red blood cells
- Affected blood cells are
moon-shaped or “sickle-
shaped” instead of round
Result: Poor blood-flow during
which the cells clump together
blocking and damaging parts of the
circulatory system. Can cause
weakness, anemia, brain damage,
spleen damage, heart damage, and
even death
What causes sickle-cell disease?
- Sickle-cell disease results
from Pleiotropy (when a
single gene affects more
than one trait)
- Is commonly found in
African-Americans whose
ancestors are from west-
central Africa
- People who are
heterozygous for sickle-
cell disease are generally
 healthy and are resistant to - It is caused by having two
malaria X chromosomes and one Y
chromosome in each cell
Chromosomal Disorders
Allele pair = XXY
+ Most chromosomal disorders are
caused by mutations Result: The extra X chromosome
interferes with Meiosis and usually
+ The most common form of
keeps them from reproducing
mutation that results in
chromosomal disorders is
Nondisjunction (the addition or
loss of a whole chromosome when
the chromosomes are supposed to
separate in meiosis
Types of Chromosomal
Disorders
+ Down Syndrome – chromosomal
disorder that results from an extra
copy of chromosome number 21
- An affected person has
three number 21
chromosomes in each cell
Result: Mental retardation and
physical abnormalities
*Down syndrome is also called
Trisomy 21, Trisomy meaning
“three bodies” or three copies
+ Turner’s Syndrome – sex
chromosome disorder in which
females have underdeveloped
sexual characteristics
- It is caused by the
presence of only 1 sex
chromosome (Monosomy),
an X, in the cells
Allele pair = X0 due to a mutation
in sex cells (germ mutation)
Result: Affected females are
sterile, and their sex organs don’t
develop at puberty
+ Klinefelter’s Syndrome – sex
chromosome disorder in which
males have underdeveloped sex
organs