Genes, Chromosomes and

DNA
 The structure of DNA
• Composed of 4 nucleotide
bases, 5 carbon sugar and
phosphate.

• Base pair = rungs of a ladder.

• Edges = sugar-phosphate
backbone.

• Double Helix

• Anti-Parallel
The structure
Figure 2.21of DNA
 DNA Replication
• Adenine (A) always base pairs with thymine (T)
• Guanine (G) always base pairs with Cytosine (C)
• ALL Down to HYDROGEN Bonding
• Requires steps:
– H bonds break as enzymes unwind molecule

– New nucleotides (always in nucleus) fit into place

beside old strand in a process called
Complementary Base Pairing.
 DNA Replication
Figure 2.22a
Remember – the two strands run in
opposite directions

Synthesis of a new (daughter) strand

occurs in the opposite direction of the
old (parental) strand.

Complementary base-pairing occurs

A with T and G with C

G and C have three hydrogen bonds

A and T have two hydrogen bonds

DNA Replication
Figure 2.22b
 DNA Replication
Figure 2.22c
New nucleotides joined together by enzyme DNA Polymerase
 DNA Replication
• Each new double helix is composed of an old
(parental) strand and a new (daughter) strand.

• As each strand acts as a template, process is called

Semi-conservative Replication.

• Replication errors can occur. Cell has repair

enzymes that usually fix problem. An error that
persists is a mutation.
• This is permanent, and alters the phenotype.
 Gregor Mendel observed
phenotypes and formed hypotheses
• How do offspring come to resemble their parents physically?

• Genetics begins with the unifying assumption that biological

inheritance is carried by structures called Genes.

• The same basic patterns of inheritance apply to most

organisms.

• The inheritance of some human traits can be explained from

work on plants

• Sex-linked traits in humans is more complicated

• Gregor Mendel
– Was the first
person to analyze
patterns of
inheritance
– Deduced the
fundamental
principles of
genetics
 Terms:

• Phenotype
– An organism’s physical traits

• Genotype
– An organism’s genetic makeup
 Allele
• Allele: Alternate form of a gene at same
position on pair of chromosomes that affect the
same trait.
• Dominant Allele: Capital Letter--O
• Recessive Allele: lowercase letter--o
• Homozygous Dominant--OO
• Homozygous Recessive--oo
• Heterozygous--Oo
Mendel’s Peas
– These plant are
easily
manipulated
– These plants
can self-fertilize

Stamen

Carpel

Garden pea
 Dominant Recessive Dominant Recessive

Pod shape Inflated Constricted

Flower color Purple White

Pod Color Green Yellow

Flower position Axial Terminal

Seed color Yellow Green

Stem length Tall Dwarf

Seed shape Round Wrinkled

 Monohybrid Crosses
P Generation
(true-breeding
parents)
Purple White
flowers flowers

F1 Generation All plants have

purple flowers

Fertilization
among F1 plants
(F1  F1)

F2 Generation

3/ 1/ of plants
F2 = 3:1 ratio of plants
4 4
have purple have white
flowers flowers
 P plants PP PP

• Using a Gametes All P All p

Punnett square
to explain the F1 plants:
results of a (hybrids) All Pp
monohybrid Gametes 1/
2 P 1/
2
p
cross

Eggs P P Sperm
F2 plants:
p PP p
Phenotypic ratio
3 purple : 1 white Pp Pp

pp
Genotypic ratio
1 PP : 2 Pp : 1 pp

Figure 9.8b
• from the monohybrid crosses, Mendel derived 4
hypotheses….combined, we now refer to these
as…
= Mendel’s Principle of Segregation

– There are alternative forms of genes, now called alleles

– For each characteristic, each organism has two genes

– Gametes carry only one allele for each inherited

characteristic

– Alleles can be dominant or recessive

Mendel’s PrinciPle of indePendent
Assortment

• What happens when you follow the

inheritance of more than a single trait at one time?

• How do two different traits get passed to offspring?

A Dihybrid Cross
 RRYY rryy
Dihybrid Cross
Gametes RY ry

RrYy

Eggs RY RY Sperm
RrYy rY
RrYy
rY
RRYY

Ry RrYY RrYY Ry

ry ry
RRYy rrYY RRYy

RrYy RrYy RrYy RrYy Yellow round

9/
16
rrYy RRyy rrYy Green round
3/
16
Rryy Rryy Yellow
3/
16 wrinkled
rryy 1/ Green
16
wrinkled

9:3:3:1
• Mendel’s principle of independent
assortment
– Each pair of alleles segregates independently of
the other pairs during gamete formation

P a B

P a b

Genotype: PP aa Bb
 Using a Testcross to Determine an
Unknown Genotype
• A testcross is a
Testcross:
mating between:
– An individual of Genotypes P_ pp
unknown Two possibilities for the purple flower:
genotype and
– A homozygous PP Pp
recessive
Gametes P P p
individual
P Pp p Pp pp

Offspring All purple 1 purple : 1 white

 Incomplete Dominance in Plants
and People
Red White
RR rr

• In incomplete
Gametes R r
dominance F1
hybrids have Pink
Rr
an appearance
in between the Gametes
1/
2 R 1/
2 r

phenotypes of
the two Eggs 1/
2
R
Red
1/
2 R
1/
Sperm

1/ r RR r
parents 2
Pink Pink
rR
2

Rr
White
rr
Figure 9.18
 Types of cells
• Not all cells of an organisms have the
• same number of chromosomes.
• Two types of cells:
• Somatic Cells
• Gametes
 Somatic Cells
• Non-sex Cells. • Diploid
• These cells do not carry
genetic information for
sexual reproduction. • Means double number.

• Contain a full compliment

of chromosomes • Designated 2n

• Characteristic to their • All somatic cells in an

species. organism have the 2n or
diploid number of
• Referred to as the diploid chromosomes.
number of chromosomes.
 Gametes
• Sex Cells • Haploid
• Cell which carry genetic
information for sexual • Means single number.
reproduction.

• Contain one half the • Designated n

compliment of chromosomes
characteristic to their species. • All gametes formed by an
organism have the n or
• Referred to as the haploid haploid number of
number of chromosomes. • chromosomes.
 Human Life Cycle
• Adults produce gametes--egg and sperm.
• Gametes fuse to produce zygote.
• Zygote grows and develops to produce baby.
• Meiosis--process of division that produces
gametes.
• Mitosis--process of replication and division
required for growth.
• Adults, zygote and baby--2n. 2n=diploid
• Gametes--n. n=haploid
 Mitosis
• Process of division that produces two daughter
cells with identical chromosomal content of
parent cell.

• Mitosis is one stage of the cell cycle.

• Cell cycle--cycle of stages a cell goes through

in order to grow and divide.

• Stages: I=Interphase, Growth 1=G1, DNA

synthesis=S, Growth 2=G2, Mitosis=M
The Human cell cycle
• Interphase--G1, S, G2
• Mitosis--M
• G1--growth
• S--DNA Synthesis,
replication
• G2--growth
• M:
– mitosis-- nuclear division
– cytokinesis--cell division
 Stages of Division- Mitosis
• Prophase--nuclear envelope breakdown,
chromosome condensation, spindle formation.
• Metaphase--chromosomes are lined up
precisely on the metaphase plate, or middle of
the cell.
• Anaphase--spindle pulls sister chromatids
apart.
• Telophase--chromatids begin to decondense
and become chromatin. Spindle disappears.
• Cytokinesis--divide cell and organelles. Actin
ring, or cleavage furrow splits cell.
Gamete Production -Meiosis
• In order to reproduce we must produce
gametes.
• Gametes are sperm and egg.
• Why is that siblings are not identical?
• Meiosis blends DNA from parental
contributions to produce a mixed up “half”
or haploid, set of DNA.
• Crossing over is critical for producing
haploid DNA with genetic diversity.
 The Process of Meiosis
Interphase

– Haploid gametes are Centrosomes

(with
produced in diploid centriole
pairs)
organisms
– Two consecutive
divisions occur,
meiosis I and
meiosis II, preceded
by interphase
Nuclear
envelope Chromatin

Chromosomes duplicate
 Prophase -I
Replicated pairs of chromosomes
line up side by side.

These pairs are called Homologous-

-both have same gene order (gene
for eye color, hair color, etc).

Sister chromatid from one pair

interact with a Sister chromatid from
another pair.

One sister is from father, one sister

from mother, but they have same
gene order.
 Prophase -I
• This interaction is called
Synapsis.

• Synapsis results in the

formation of a Tetrad (4
sisters together).

• Crossing over swaps

sections of homologous
genes.
 Meiosis - I
Figure 2.9 (1)

Prophase I

Metaphase I

Anaphase I

Telophase I
Meiosis - II
Figure Prophase
2.9 (2) II

Metaphase II

Anaphase II

Telophase II
•Meiosis I
Meiosis I: Homologous
chromosomes separate
Telophase I
Prophase I Metaphase I Anaphase I
and Cytokinesis
Sites of crossing over Microtubules attached Sister chromatids Cleavage
to Chromosomes remain attached furrow
Spindle

Sister Tetrad Centromere

chromatids

Homologous Tetrads line up Pairs of homologous Two haploid cells

chromosomes chromosomes form: chromosomes
pair and exchange split up are still double
segments
•Meiosis II
Meiosis II:
Sister chromatids separate

Prophase II Telophase II
Metaphase II Anaphase II
and Cytokinesis

Sister chromatids Haploid daughter cells

separate forming

During another round of cell division, the sister chromatids finally separate;
four haploid daughter cells result, containing single chromosomes
 Sexual life cycles
• Haploid Gametes join to form a zygote
• Somatic cells divide by Mitosis to produce adult organism
• Meiosis produces gametes in sex cells
 Genes on sex chromosomes determine
Sex and sex-linked traits
• Micrograph of the chromosomes of an organism paired and
numbered.
• Used to check for chromosomal abnormalities in individuals.
 Sex Determination
• All embryos start on a neutral or
"indifferent" path. The 4 week old
embryo is indifferent
• By 7 weeks, the SRY (sex-related)
gene encoded by the short arm of
the Y chromosome begins to roar!

• Testis determining factor converts

progesterone to testosterone
 Sex Determination
• Indifferent embryos have two sets of
ducts:
• Müllerian ducts--will be come the
future oviducts--thus female.

• Wolfian ducts--will become the

future vas deferens--thus male
– dependent on testosterone for its
continued development

• The testes also produce an anti-

Müllerian hormone that promotes
regression of the Müllerian ducts
– without SRY, the indifferent embryo
will naturally develop into a female
 Sex Determination

Two copies of DAX (double X) inactivate SRY, thus this

individual would be genetically male, but look female.
Sex Determination
SexFigure
Determination
2.16 (3)
Sex Chromosomal Disorders
• Turner Syndrome – XO only one sex
chromosome
• Short, thick neck and stature
• Do not undergo puberty, or menstruate,
• no breast development
• Kleinfelter Syndrome – XXY
• Testis and prostate underdeveloped
• No facial hair
• Brest development
• Long arms and legs: big hands and feet
• Can be mentally retarded
An XY Individual with Androgen
Insensitivity Syndrome

Androgen Insensitivity Syndrome is a sex reversal condition where XY

individuals look female. These individuals have the Y chromosome and
functional SRY. These individuals have testis which generate AMH and
testosterone. However, the genetic mutation results in a lack of the
testosterone receptor. Estrogens are made in the adrenal gland which drive
phenotypic development. As adults, these individuals have testes in the
abdomen and lack a uterus and oviducts.
 Issues of sex determination
• So, clearly being Male or Female isn’t as cut and dry
as people have been led to believe!

• 17 out of 1,000 people are really neither

– XY, but Female anatomy
– XX, but Male anatomy
– Both Female and Male anatomy

• Other genes, such as testosterone receptor on

chromosomes other than X and Y chromosomes
have a role in sexual development
 Issues of sex determination
• So, some people fall between Male and Female
– Due to chromosomal variation
– Variations in SYR gene
– Testosterone receptor gene

• All of the different variations are known as intersex

– These people are altered surgically to make them
conform to one sex or the other

• Should there be five genders instead of two?

 Summary
• Genetics is the study of biological traits. These
traits are coded for in genes, which are parts of
chromosomes.

• An Allele is a variant of a gene. These can be

dominant or recessive, and these are the basis of
inherited traits, both structural and behavioral.

• Chromosomes exist as homologous pairs.

 Summary
• Somatic Cells - Non-sex Cells. Contain a full
compliment of chromosomes. Characteristic to
their species. Referred to as the diploid number of
chromosomes.

• Gametes - Sex Cells. Cell which carry genetic

information for sexual reproduction. Contain one
half the compliment of chromosomes characteristic
to their species .Referred to as the haploid number
of chromosomes.
The End.
Any Questions?