Professional Documents
Culture Documents
Rina Masadah
ORGANEL SEL
Inti Sel
Membran Nukleus
Nukleolus
Kromatin
Membran Plasma
Nama lain : Plasmalema
Tersusun bi-layer
Fosfolipid di bagian tengah dan diliputi
protein
Bagian permukaan hidrofilik
Bagian tengah hidrofobik
Protein membran : protein integral & perifer
Membran Plasma
Mitokondria
Berbentuk filamen selebar 0,5 1 m
Dalam 1 sel bisa terdapat sampai
800 buah (sel hati)
Sumber energi terbesar sel : ADP
ATP
Jumlah krista dalam mitokondria
sesuai aktivitas sel
Terdapat DNA mitokondria
Gambar Mitokondria
Ribosom
Fungsi : merangkai asam amino peptid
Messenger RNA yang keluar dari nuclear
pore diubah menjadi peptida oleh
ribosom (Translasi)
Terdapat dalam sitoplasma dan melekat
pada REK
Terdiri dari 2 sub unit : Besar & kecil
Sintesis Protein
Gambar Ribosom
Retikulum Endoplasma
Kasar
Suatu bangunan berlapis yang
membungkus suatu ruang intersisterna
yang berisi protein-protein yang baru
disintesa
Ribosom menempel pada bagian luar
retikulum endoplasma REK
Fungsi utama : pembentukan protein
Gambar REK
Retikulum Endoplasma
Halus
Tidak terdapat ribosom pada permukaannya
Peran : produksi lipid, metabolisme
karbohidrat, detoksifikasi racun
Sel yang metabolismenya aktif jumlah
REH
Sel hati jumlah REH
Gambar REH
Alat Golgi
Terlihat sebagai jaring-jaring atau vakuol
yang gelap bila dilihat dengan mikroskop
cahaya
3 komponen :
Sisterna
Vesikel kecil
Vakuol besar
Di dalam sel hanya terdapat 1 alat golgi
Terdapat receiving site dan shipping
site
Lisosom
Suatu sistem pencerna intrasel yang mampu
memecah materi yang berasal dari dalam dan dari
luar sel
Bentuknya bermacam-macam Pleiomorfisme
Mengandung berbagai macam enzim hidrolase
Terdapat 2 macam : Primer dan Sekunder
Fagosom :Vakuol ok internalisasi bahan dari luar
Autosom : Vakuol internalisasi bahan dari dalam
Autosom / Fagosom + Lisosim primer Lis sekunder
Gambar Lisosom
Peroksisom
Peroksisom atau badan mikro mempunyai
struktur yang sama dengan lisosom, tetapi
tidak mengandung enzim hidrolase
Organel ini dibentuk di dalam REK dan
fungsinya sampai sekarang masih belum
jelas
Diduga fungsi organel ini adalah melindungi
sel terhadap peroksida hidrogen yang
sangat toksik terhadap sel. (mengandung
enzim peroksidase)
Sentriol
Dengan mikroskop cahaya sentriol tampak
sebagai granula atau batang pendek yang
terletak dekat dengan inti
Pada umumnya pada saat interfase sel yang
tidak membelah mempunyai 2 buah sentriol atau
disebut diplosom.
Bila dilihat pada potongan melintang , dinding
silinder tersebut tersusun oleh sembilan triplet
yaitu gabungan 3 mikrotubul yang menyatu.
Triplet tersebut tersusun agak serong terhadap
lingkaran sentriol.
Dan selama mitosis, kedua pasangan yang
dihasilkan bergerak ke kutub berlawanan dari sel
dan menjadi pusat organisasi bagi gelondong
mitosis
Gambar Sentriol
Mikrotubul
Mempunyai garis tengah luar 24 nm,
terdiri atas dinding padat setebal 5 nm
dan lapisan pusat selebar 14 nm.
Subunit sebuah mikrotubul adalah
heterodimer yang terdiri atas molekul
tubulin alpha dan beta.
Peran : gerakan sel , dalam proses
mitosis bila dikaitkan dengan sentriol ,
transpor intrasel
Gambar Mikrotubul
3 Macam
Mikrotubul
Ikatan
Kromosom
dan
Mikrotubul
.
2.
3.
RNA
Three different types of RNA:
mRNA - messenger RNA,
specifies order of amino acids
during protein synthesis
tRNA - transfer RNA, during
translation mRNA information
is interpreted by tRNA
rRNA ribosomal RNA,
combined with proteins aids
tRNA in translation
A U G G G C U C C A U C G G C G C A U A A
codon 1
protein methionine
codon 2
codon 3
glycine
serine
codon 4
isoleucine
codon 5
codon 6
glycine
alanine
codon 7
stop
codon
aa2
aa3
peptide bonds
aa4
aa5
aa6
DNA
Transcription
Eukaryotic
Cell
Pre-mRNA
RNA Processing
mRNA
Ribosome
Translation
Protein
Transcription
The transfer of information in the nucleus from a
DNA molecule to an RNA molecule.
Only 1 DNA strand serves as the template
Starts at promoter DNA (TATA box)
Ends at terminator DNA (stop)
When complete, pre-RNA molecule is released.
RNA polymerase
binds to the TATA
box in the promoter,
which is located just
5 (upstream) of the
transcription start
site.
Transcription
Transcription
RNA Processing
The RNA produced during
transcription is
called pre-mRNA
Translation
Synthesis of proteins in the cytoplasm
Involves the following:
1. mRNA (codons)
2. tRNA (anticodons)
3. rRNA
4. ribosomes
5. amino acids
aa4
aa5
Termination
aa199
aa3 primary
structure
aa2 of a protein
aa200
aa1
200-tRNA
A C U
mRNA
terminator
or stop
codon
C A U G U U U A G
DNA Replication
3
AT
C G
A
T
A .. T
G...C
T ..A
DNA Replication
5
An enzyme termed DNA
Polymerase synthesizes
new DNA from original in a
5 to 3 direction (the end
with a free OH group)
DNA replication results in
two new complementary
strands of DNA.
One of each is from original
and one new..semiconservative replication
3
New nucleotides can
Only add to this end
G
T C
A
A
T
C
G
AT
C G
A
T
DNAPolymerase
5
3
Since the DNA strands are antiparallel, and replication proceeds in the 5' to 3'
direction on each strand, one strand will form a continuous copy. The top strand
here.
while the other, lagging strand will form a series of short pieces
with gaps. These are called Okazaki fragments and require the use
of other enzymes to complete the process.
DNA Damage
DNA Damage is caused by a variety
of agents and by different
mechanisms
Replication errors may cause
mismatched bases
Cells of all types have a number of
DNA repair pathways to deal with
mismatches and damage
X-ray Irradiation
Deamination
Depurination
Base Excision
Repair
10 September
Nucleotide Excision
Repair
10 September
Replication
DNA
Transcription
RNA
Translation
PROTEIN
CELL CYCLES
The
repeating
sequence
of
growth and division through
which cells pass each generation
The purpose of the cell cycle is
to allow cells to reproduce
without alteration of genetic
material
The stages are well preserved
between species
Growth
Development
Maintenance
Reproduction
checkpoints
at the G1 S transition
at the S G2 transition
at the G2 M transition
S
Cyclin
P53
+
Cdk
G2
G1
M
Rb
Oncogene
(BCl2,BRCA1)
Cell death
Cell proliferation
NORMAL
Cell death
Oncogene
(BCl2,BRCA1)
Tumor Suppressor
(P53, Rb)
Cell proliferation
CANCER
Cyclin
Cyclin D
Cyclin E
Cyclin A
Cyclin A
Cyclin B
Cdk
Cdk 4,6
Cdk 2
Cdk 2
Cdk 1(Cdc2)
Cdk 1
Process regulated
G1 phase progression
G1 to S phase
S phase progression
S through G2
M phase
G2
G1
Cyclin B-Cdk1
Kinase Activity
CyclinA-Cdk1
Cyclin E-Cdk 2
Cyclin D-Cdk 4/6
Time
GF
CHECKPOINTS
The cell cycle control system has
checkpoints during G1, G2, S and M
Checkpoint signals report cells
status:
G1
G2
prophase
metaphase
anaphase
Mitosis
Cytokinesis
GENETIC VARIATION
AND DISEASE
A C T C A G T
T G A
General population
97%
A C T C A G T
T T A
Polymorphism
3%
A C T C A G T
T G A
General population
99.8%
A C T C A G T
T T A
0.2%
Mutation
. . . . G G T A A C T
G.....
. . . . G G C AAC T G . . . .
. . . . . G G G AAC T G . . .
.
Location of genetic
variation on human
DNA
ACE
genotype
DD ID
gene
II
THE EFFECTS OF
GENETIC VARIATION
Neutral alteration, a base substitution with
no effect on the amino acid residue
encoded
Conservative change, a base substitution
that results in an altered amino acid, but
has minimal effect on protein structure
and function
Nonconservative alteration leading to a
change in the encoded amino acid residue
that has dramatic effects on protein
structure and function
UUU
UCU
UUC Phe UCC
U
Ser
UUA Leu UCA
UUG
UCG
UAU
UAC Tyr
UAA Stop
UAG Stop
U
UGU
Cys
C
UGC
UGA Stop A
UGG Trp G
CUU
CCU
CUC
CCC
C
Leu
Pro
CUA
CCA
CUG
CCG
CAU
CAC His
CAA
Gin
CAG
AUU
AUC Ile
A
AUA
AUG Met
ACU
ACC
Thr
ACA
ACG
GUU
GUC
G
Val
GUA
GUG
GCU
GCC
Ala
GCA
GCG
U
AAU
AGU
Ser
C
AAC Asn AGC
AAA
AGA Arg A
Lys
AAG
AGG
G
U
GAU
GGU
C
GAC Asp GGC
Gly
GAA
GGA
A
Glu
GAG
GGG
G
U
CGU
C
CGC
Arg
CGA
A
CGG
G
Neutral alteration
Conservative change
Nonconservative change
Nonconservative change
Promotor region
Exons
Mutant site
Leak of function
Gain of function
Genome Level
Phenotypes are the result of many genes acting in concert
Sexual recombination provides enormous potential of
diversity by combining a handful variants of genes
Population Level
Populations: are compartments of genotypic variation:
different populations have distinctive population genetic
profiles
Populations are natures testing ground for the fitness
of particular genotypic variants:
the environment of a population shapes its genetic profile
Monogenic disease
Complex disease
Mutation
Gene B
Gene
Genetic variations
Gene A
Gene C
Inheritance pattern
(dominan or recessive
Inheritance pattern
(complex)
Genetic risk in
population
Environmental/life-style
GENOTYPE-PHENOTYPE
RELATIONSHIP
e
as
e
Dis
n
Cli
Mu
on
i
t
ta
Dy
c
n
u
sf
tion
Cell
Pathology
DNA
Molecular Genetics
lm
a
ic
t
s
e
f
i
an
Tissue
Biochemistry
Physiology
Family
Population
ns
o
i
at
Organ
Imaging
Individual
Clinical
Clinical
Epidemiology