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GENETIKA BIO 3041

Pendahuluan;
Akses on-line books ;
Konsep Dasar Genetika;

Dr. Niken Satuti Nur Handayani, M.Sc.


Dr. Budi Setiadi Daryono, M.Agr.Sc.
Ganies R A, S.Si., M.Sc.

The National Center for Biotechnology Information

NCBI Bookshelf
www.ncbi.nlm.nih.gov/books/bv.fcgi

What is the center of heredity in a cell?


What is genetic material?
What is a gene?
What is a chromosome?
When and how can chromosomes be visualized?
How many chromosomes does an organism have?
What is accomplished during the process of mitosis and
meiosis?
8.
What are the sources of genetic variation?
9.
How does DNA store genetic information?
10. How is genetic code organized?
11. How is genetic code expressed?
12. Why are proteins so important to living organisms that they
serve as the end product of the vast majority of genes?
1.
2.
3.
4.
5.
6.
7.

DNA Sequence
(splited by genes)

RNA

Amino Acid
sequence

protein

phenotype

Before a cell can divide, it must replicate all its DNA.


From one end, the double helix is unwound, expose single bases on
each strand.
Each strand works as a template to reform a new double helix.
The new double helix is formed by strict base pairing requirement,
i.e., A-T, C-G.

During
transcription

Gene 2

DNA
molecule

Gene 1

The gene

determines the
sequence of bases
along the length
of an mRNA
molecule

Gene 3

DNA strand
(template)

3
A

TRANSCRIPTION

mRNA

Codon
TRANSLATION

Protein

Trp
Amino acid

Phe

Gly

Ser

Translation of the nucleotide sequence on


mRNA

Determines the amino acid sequence by


genetic code

Genetic Code: three base pairs of RNA


(called a codon) determine one amino
acid based on a fixed table

P : induk/orang tua/parental
berasal dari Bhs. Latin parens

F : keturunan
berasal dari Bhs. Latin filius

Fenotip

Genotip

Alel

Homozigot/Heterozygot

Diploid/Haploid

Tingkat Biokimiawi
Fenotip molekul protein, mis. fenotip globin
Aktifitas enzim, kadar gula darah

Tingkat Fisiologis
Hasil rekam elektrokardiografi, tekanan darah

Tingkat Histologis
Variasi bentuk sel

Tingkat Anatomis
Tinggi badan, warna kulit, warna rambut

Tingkat Psikologis
Tingkah laku, IQ

Hibrid

Persilangan Resiprok

Back-cross (Persilangan Kembali)

Test-cross (Uji Silang)

GENETIKA (BIO 3041)


Fakultas Biologi
Universitas Gadjah Mada
SM Gasal TA 2011/12012

Dr. Niken Satuti Nur Handayani, M.Sc


Laboratorium Genetika, Fakultas Biologi UGM
nikensat@yahoo.com; niken_satuti@ugm.ac.id

The role of DNA in heredity


Was first worked out by studying bacteria and the

viruses that infect them

Frederick Griffith was studying Streptococcus


pneumoniae
A bacterium that causes pneumonia in mammals

He worked with two strains of the bacterium


A pathogenic strain and a nonpathogenic strain

Griffith found that


when he mixed
heat-killed remains
of the pathogenic
strain
With living cells
of the
nonpathogenic
strain, some of
these living cells
became
pathogenic
Figure 16.2

EXPERIMENT
Bacteria of the S (smooth) strain of Streptococcus pneumoniae are pathogenic because they
have a capsule that protects them from an animals defense system. Bacteria of the R (rough) strain lack a capsule
and are nonpathogenic. Frederick Griffith injected mice with the two strains as shown below:

Living S
(control) cells

Living R
(control) cells

Heat-killed
(control) S cells

Mixture of heat-killed S cells


and living R cells

RESULTS
Mouse dies

Mouse healthy

Mouse healthy

Mouse dies

Living S cells
are found in
blood sample.
CONCLUSION
Griffith concluded that the living R bacteria had been transformed into pathogenic S bacteria by an
unknown, heritable substance from the dead S cells.

Griffith called the phenomenon transformation


Now defined as a change in genotype and

phenotype due to the assimilation of external DNA


by a cell

THE STRUCTURE OF THE GENETIC MATERIAL

The Hershey-Chase
experiment showed
that certain viruses
reprogram host
cells to produce
more viruses by
injecting their DNA

Head
DNA
Tail

Tail
fiber

Campbell et al, 2003


Figure 10.1A

The Hershey-Chase Experiment


1

Mix radioactively
labeled phages with
bacteria. The phages
infect the bacterial
cells.
Phage

Agitate in a blender
to separate phages
outside the bacteria
from the cells and
their contents.
Radioactive
protein

Bacterium

Centrifuge the mixture


so bacteria form a
pellet at the bottom of
the test tube.

Empty
protein shell

Measure the
radioactivity in
the pellet and
liquid.

Radioactivity
in liquid

Phage
DNA
DNA

Batch 1
Radioactive
protein
Centrifuge
Pellet

Batch 2
Radioactive
DNA
Campbell et al, 2003
Figure 10.1B

Radioactive
DNA
Centrifuge
Pellet

Radioactivity
in pellet

The Hershey-Chase Experiment

Phage attaches
to bacterial cell.

Phage injects
DNA.

Phage DNA directs host


cell to make more phage
DNA and protein parts.
New phages assemble.
Cell lyses and releases
new phages.

Campbell et al, 2003


Figure 10.1C

Prior to the 1950s, it was already known


that DNA
Is a polymer of nucleotides, each consisting

of three components: a nitrogenous base,


a sugar, and a phosphate group

DNA has four kinds of bases,


A, T, C, and G

Thymine (T)

Cytosine (C)

Pyrimidines

Adenine (A)

Guanine (G)

Purines

Campbell et al, 2003


Figure 10.2B

DNA is a nucleic acid, made of long chains of nucleotides


Phosphate
group

Nitrogenous
base
Sugar
Phosphate
group

Nitrogenous base
(A, G, C, or T)

Nucleotide

Thymine (T)

Sugar
(deoxyribose)

DNA nucleotide
Polynucleotide

Sugar-phosphate backbone

Campbell et al, 2003


Figure 10.2A

RNA is also a nucleic acid


RNA has a slightly different sugar

RNA has U instead of T


Nitrogenous base
(A, G, C, or U)

Phosphate
group

Uracil (U)

Sugar
(ribose)

Figure 10.2C, D

Once most biologists were convinced that DNA


was the genetic material
The challenge was to determine how the structure

of DNA could account for its role in inheritance

James Watson and Francis Crick worked out


the three-dimensional structure of DNA, based
on work by Rosalind Franklin

Figure 10.3A, B

Hydrogen bonds between bases hold


the strands together
Each base pairs with a complementary partner
A pairs with T

G pairs with C

DNA REPLICATION

In DNA replication, the strands separate


Enzymes use each strand as a template to assemble

the new strands


A

Nucleotides
Parental molecule
of DNA

Both parental strands serve


as templates

Two identical daughter


molecules of DNA
Figure 10.4A

Untwisting and replication of DNA

DNA replication is
semiconservative
Each of the two

new daughter
molecules will
have one old
strand, derived
from the parent
molecule, and
one newly made
strand
Figure 16.10 ac

Parent cell

Conservative
model. The two
parental strands
reassociate
after acting as
templates for
new strands,
thus restoring
the parental
double helix.

Semiconservative
model. The two
strands of the
parental molecule
separate,
and each functions
as a template
for synthesis of
a new, complementary strand.

Dispersive
model. Each
strand of both
daughter molecules contains
a mixture of
old and newly
synthesized
DNA.

First
replication

Second
replication

The molecular structure of DNA


P

Each strand of the


double helix is
oriented in the
opposite direction

3 end

P
P

5 end

3 end
Figure 10.5B

5 end

The molecular structure of DNA

The molecular structure of DNA

Watson and Crick


deduced that DNA
was a double helix

C
A

T
T

1 nm

Through

3.4 nm

observations of the
X-ray
crystallographic
images of DNA

A
T

A
A

T
T

C
0.34 nm

Figure 16.7a, c

(a) Key features of DNA structure

(c) Space-filling model

The molecular structure of DNA

Franklin had concluded that DNA


Was composed of two antiparallel sugar-phosphate

backbones, with the nitrogenous bases paired in the


molecules interior

The nitrogenous bases


Are paired in specific combinations: adenine with

thymine, and cytosine with guanine

The molecular structure of DNA

Watson and Crick reasoned that there must be


additional specificity of pairing
Dictated by the structure of the bases

Each base pair forms a different number of


hydrogen bonds
Adenine and thymine form two bonds, cytosine

and guanine form three bonds

The molecular structure of DNA


H
N

Sugar

CH3

N
O
Sugar
Thymine (T)

Adenine (A)

N
Sugar

N
N

N
N

Figure 16.8

H
Guanine (G)

Sugar
Cytosine (C)

In eukaryotes, DNA is packaged with proteins


to form a matrix called chromatin.
The DNA is coiled around bundles of eight or
nine histone proteins to form DNA-histone
complexes called nucleosomes.
Through the electron microscope, the
nucleosomes appear like beads on a string.
During cell division, DNA is compactly
organized into chromosomes.

In the non-dividing cell, the DNA is arranged


as either of two types of chromatin:
Euchromatin describes regions where the DNA is

loosely bound to nucleosomes. DNA in these


regions is actively being transcribed.
Heterochromatin represents areas where the
nucleosomes are more tightly compacted, and
where DNA is inactive.
Because of its condensed arrangement,
heterochromatin stains darker than euchromatin.

Erwin Chargaff analyzed the base composition


of DNA from a number of different organisms
In 1947, Chargaff reported that DNA
composition varies from one species to the
next
This evidence of molecular diversity among
species made DNA a more credible candidate
for the genetic material

Jumlah basa purine sebanding dengan


jumlah basa pyrimidine (A+G) = (C+T)

Jumlah basa adenine sebanding dengan


jumlah basa thymine A = T

Jumlah basa guanine sebanding dengan


jumlah basa cytosine G = C

Contoh:
Diketahui bahwa kandungan Adenin dari
molekul DNA suatu makhluk hidup adalah 20%,
maka:
A = T (A = 20% ; T = 20%)
A + T = 40%
C + G = 100% - 40% = 60%,
sehingga kandungan C = 30% dan G = 30%

Nuclear; chromosomes
Nuclear genome; chromosomal DNA

Mitochondrion; Chloroplast
Extra-nuclear genome; extra-chromosomal DNA

50

The following diagram displays the flow of genetic information


from DNA to the protein. This can be interpreted in genetic
terms by saying that information contained in genes (DNA) is
eventually expressed as the phenotype (protein).

52

In eukaryotes, chromosomes bear the genetic


information that is passed from parents to
offspring.
The genetic information is stored in molecules
of DNA. The DNA, in turn, codes for enzymes,
which, in turn, regulate chemical reactions that
direct metabolism for cell development,
growth, and maintenance.

The nucleotide sequence of a DNA is GTA.


A messenger RNA molecule with a complementary
codon is transcribed from the DNA. In the process of
protein synthesis, a transfer RNA pairs with the
mRNA codon. What is the nucleotide sequence of
the tRNA anticodon?

54

The base sequence of the gene coding for a short


polypeptide is GATGCGATCCGCTAACTGATT. What
would be the base sequence of the mRNA
transcribed from this gene? Using the genetic code,
give the amino acid sequence of the polypeptide
translated from this mRNA!
(Hint: What is the start codon?)

The base sequence of the template DNA strand for a


short polypeptide is CTACGCTAGGCGATTGACTTT.
What would be the base sequence of the mRNA
transcribed from this gene? Using the genetic code,
give the amino acid sequence of the polypeptide
translated from this mRNA.