Biology 1 Lecture 6

Bio 1

DNA and Chromosome

Replication
Michael C. Velarde, Ph.D.

Packaging of chromosome in the nucleus

Copyright © 2008 Pearson Education, Inc., publishing as Pearson Benjamin Cummings

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Biology 1 Lecture 6

DNA bases
Sugar–phosphate Nitrogenous bases
backbone
5 end

Thymine (T)

Sugar

Adenine (A) Sugar

Adenine (A) Thymine (T)

Cytosine (C)

Phosphate
Guanine (G) Sugar
Sugar Sugar
(deoxyribose)
DNA Nitrogenous base
nucleotide 3 end

The structure of a DNA strand.

Guanine (G) Cytosine (C)

The DNA double helix

5 end
C G

C G
Hydrogen bond
3 end
G C

G C T A

3.4 nm
T A

G C
G C

C G

A T The double helix

1 nm C G
T A

C G

G C

C G A T

A T 3 end
A T
0.34 nm
T A 5 end

(a) Key features of (b) Partial chemical structure (c) Space-filling

DNA structure model

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Biology 1 Lecture 6

DNA Replication

DNA synthesis

Parental
strand

Daughter
stand
DNA goes through a type of replication
called semi-conservative replication,
which means one strand on the DNA
helix is new and the other strand is old

DNA Replication

Special proteins, called

helicases, unwinds DNA during Primase
replication
3
Topoisomerase
5 RNA
3 primer
5
3

Helicase

5
Single-strand binding
proteins

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Biology 1 Lecture 6

DNA replication

DNA polymerases are

enzymes that create DNA
molecules by assembling
nucleotides.

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

DNA Replication

A T A T A T A T

C G C G C G C G

T A T A T A T A

A T A T A T A T

G C G C G C G C

(a) Parent molecule (b) Separation of (c) “Daughter” DNA molecules,

strands each consisting of one
parental strand and one
new strand

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Biology 1 Lecture 6

DNA replication process

http://www.yourgenome.org/video/dna-replication

Chromosome Segregation During Mitosis

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0.5 µm Chromosomes DNA molecules

Sister Chromatids
held by centromere Chromo-
Chromosome
some arm
duplication
(including DNA
synthesis)
Centromere

Sister
chromatids

Separation of
sister chromatids

Centromere

Sister chromatids

Types of Chromosomes Based on Centromere Location

Metacentric Submetacentric Acrocentric Telocentric

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Biology 1 Lecture 6

Two pairs of chromosomes

Homologous chromosomes have

alleles for the same gene
A

a
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Homologous Chromosomes vs Sister Chromatids

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Biology 1 Lecture 6

Chromosome
characterization

Karyotype is the
number and appearance
of chromosomes in the
nucleus of a eukaryotic
cell.

Karyotyping at the fetal stage

1) Amniocentesis
•Sampling fetal cells shed into the amniotic fluid
•Used on fetuses at 15-16 weeks of gestation

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Karyotyping at the fetal stage

2) Chorionic villus sampling

•Uses cells from the chorionic villi, whose chromosomes match those of
the fetus because they all descend from the fertilized ovum
•Used on fetuses at 10 weeks of gestation

• Humans have 23 pairs of chromosomes distributed among 8

groups (A-G and sex chromosomes)

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Chromosome painting – shows a karyotype where each chromosome

type is fluoresced by a unique color

Whole chromosome painting (WCP)

Barr Bodies in Females

A Barr body is the

inactive X chromosome
in a female somatic cell

http://bio3400.nicerweb.com/Locked/media/ch07/Barr_body-karyotypes.html

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Biology 1 Lecture 6

Chromosomal
Instability

Aneuploidy

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Chromosomal Disorders
Down syndrome (Trisomy 21)

• Physical growth delays

• Characteristic facial features
• Intellectual disabilities

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Biology 1 Lecture 6

Chromosomal Disorders
Edwards Syndrome (Trisomy 18)
• Heart defects
• Kidney malformations
• Developmental delays
• Intellectual disability

Chromosomal Disorders
Patau Syndrome (Trisomy 13)

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Biology 1 Lecture 6

Chromosomal Disorders

Klinefelter syndrome (47, XXY)

• Sterile
• Gynecomastia
• Smaller genitals

Chromosomal Disorders
Turner syndrome (45,X)

• Webbed neck
• Short stature
• Do not develop breasts
• sterile

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Biology 1 Lecture 6

Chromosomal Aberrations
Repair mechanism

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

Chromosome Deletion Syndromes

Cri-du-chat syndrome (5p-)
• Cat-like cry
• Cognitive, speech and motor delays
• Behavioral problems
• Wide eyes

Deletion in chromosome 5

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Chromosome Deletion Syndromes

Prader Willi Syndrome (15q- or PWS)
•deletion of segments q11 and q12 in chromosome 15
•affected chromosome from father
•mentally retarded
•eats uncontrollably
•small hands and feet
•Poor muscle tone, resulting in floppy infants
Deletion in chromosome 15

Chromosome Deletion Syndromes

Angelman syndrome (15q- or AS)
•deletion of same segments in chromosome
15 as in PWS
•affected chromosome from the mother
•Developmental delay
•Speech impairment
•Movement or balance disorder
•Frequent laughter or smiling
•Easily excitable
•Frequent flapping of arms
•Jerky movements
•Also known as the happy puppet syndrome

Deletion in chromosome 15

http://www.epharmapedia.com/ 4ourangel.org.u

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Chromosome Deletion Syndromes

Williams Syndrome (7q-)

•“elfin” facial appearance, low nasal bridge

•Cheerful, ease with strangers
•Developmental delay
•Cardiovascular problems

Other Chromosomal Syndromes

Alagille Syndrome

•Balanced translocation t(4;14)(q21;q21); deletion of 20p11.2

•Affects liver, heart, kidney
•Prominent forehead, pointed chin
•Cardiac abnormalities

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Chromosomal Disorders
Chromosomal disorders increases with age of the parent

Mitochondrial DNA
Several mitochondria in one cell

Several DNA in one mitochondria

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Biology 1 Lecture 6

Mitochondrial DNA
Mitochondrial DNA is smaller than nuclear DNA

http://www.majordifferences.com/2015/05/difference-between-mitochondrial-dna.html#.VtlKWpx97WJ

Mitochondrial DNA
Mitochondrial DNA encodes fewer proteins than
nuclear DNA

Human mtDNA
• 2 rRNAs
• 22 tRNAs, 16,569 bp
• 13 proteins

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Mitochondrial replication
Mitochondrial
DNA replication

Miram Baron dissertation

Mitochondrial replication
Mitochondrial division (fission) and fusion

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Mitochondrial Inheritance
The transmission of the mitochondrial
genome is from mother to child

http://evolution.berkeley.edu/evolibrary/news/071101_genealogy

Mitochondrial Inheritance

No mitochondria in the sperm head

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Mitochondrial Inheritance

Mitochondrial defects comes

from mothers

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