Gene Structure

and Mutation
Dyah Ratna Budiani
Bagian Patologi Anatomi/
Lab Biomedik FK-UNS

Gene ?
Tradisional : suatu segment DNA yang
mengkode 1 rantai polipeptida atau 1
molekul RNA fungsional.
Modern :suatu sekuens genomik DNA
atau RNA yang esensial untuk 1 fungsi
spesifik.
Tipe Gen :
1. Protein Coding Genes = adalah gen yang ditranskripsi
menjadi mRNA dan selanjutnya mengalami translasi mjd
protein (structural genes) RNA Polymerase II
2. RNA specifying genes = yang hanya mengalami transkripsi
tanpa translasi.
1. rRNA (RNA Pol I),
2. scRNA RNA Pol II or III)
3. snRNA
4. t RNA.
3. Regulatory Genes = gen yang tidak mengalami transkripsi
maupun translasi tetapi merupakan sekuens regulator untuk
ekpresi gen (untranscribed sequences)
All living organism, termasuk juga virus
memiliki materi genetik : deoxyribonucleic
acid (DNA).
DNA polimer dari : gula (deoksi ribosa), basa
nitrogen dan pospat nukleotida
DNA berupa polynukleotida(polimer dari
nukleotida).
Basa nitrogen terdiri atas 2 Purin [ yaitu :
Adenin (A)dan Thymine(T) ] dan 2 Pirimidin [
yaitu : Guanine(G) dan Cytosine(C) ]

Schematic representation of anti-parallel
stucture of double-stranded DNA.
Keterangan :
OH = HIDROKSIL, dR= doksiribosa, P= Phospat, A= Adenine, G=Guanine;
T=Thymine, C=Cytosine; = strong hidrogen bound;
= weak hidrogen bound
DOGMA GENETIK :

DNA DNA RNA PROTEIN
REPLIKASI
TRANSKRIPSI TRANSLASI
NH3
COOH
splicing
Maturasi, Folding,Glikosilasi,
sorting dan targeting
mRNA
Struktur genes :
Terdiri atas :
transcribed & non transcribed parts
Flaking region,introns, spesific sequens for spesific
signals, initiation, tempo & timing regulatory of the
transcription process. Regulatory sequences
promote : promoter region yang teridi atas :
TATA box(19-27bp,control atau menentukan
start point of transcription)
CAAT box dan GC box orientasi dan kontrol
inisiasi tempat melekatnya RNA Polymerase.
Cap site= transcription
initiation site,
exons
end = termination site
Poly Adenilasi(poly A)
gene structure
(a). Schematic structure of a typical eukaryotic protein-coding gene.
Note that, by convention, the 5' end is at the left.
(b). Schematic structure of an induced prokaryotic operon (Slide berikut)

(b) Schematic structure of an induced prokaryotic
operon. Genes A and B are protein-coding genes and
are transcribed into a single messenger RNA. The
repressor gene encodes a repressor protein, which
binds to the operator and prevents the transcription
of the structural genes by blocking the movement of
the RNA polymerase. The operator is a DNA region
with at least 10 bases, which may overlap the
transcribed region of the genes in the operon. By
binding to an inducer (a small molecule), the
repressor is converted to a form that cannot bind to
the operator. The RNA polymerase can then initiate
the transcription of the genes A and B in the operon
(see Lewin 1990). In both (a) and (b), the regions are
not drawn according to scale.
RNA SPECIFYING GENES
REGULATORY GENES
Replicator genes : which specify sites for
initiation & termination of DNA Replication.
Recombinator genes : which provide spesific
recognition site for recombination enzymes.
Segregator genes : spesific site for
attachment of the chromosome to
segregation machinenary during mitosis
/meiosis.
Attachment site for protein, hormon and
others molecules
Mutasi gen :
Mutasi terjadi karena kesalahan penyalinan
sekuen DNA selama replikasi.
Mutasi : substitusi, insersi, delesi dan inversi
Substitusi : transisi ( subtitusi : A G (purin) or TC
(pirimidin).
Substitusi : tranversi ( subtitusi : T G or(AC)
purine ke pirimidin atau sebaliknya
Inversi rotasi 180(lihat gambar berikut)
Tipe substitusi
Synonimous = jika tidak merubah asam
amino
Missense = jika mutasi merubah aa
Non sense = jika mutasi menyebabkan
adanya terminasi/stop kodon.
Crossing over & deletion of DNA
sequence
Generation of duplications or deletions by slipped-strand
mispairing between contiguous repeats (underlined). Small
arrows indicate direction of DNA synthesis. Do is indicate base
pairing.
(a) A two-base slippage in a TA repeat during DNA replication.
Slippage in the 3' 5' direction results in the insertion of one
TA unit (left panel). Slippage in the other direction results in the
deletion of one repeat unit (right panel). The deletion shown in
the right panel results from excision. of the unpaired repeat
unit (asterisks) at the 3' end of the growing strand, presumably
by the 3' 5' exonuclease activity of DNA polymerase.
(b) A two-base slippage in a TA repeat in nonreplicating DNA.
Mismatched regions form single-stranded loops, which may be
targets of excision and mismatch repair. The outcome (a
deletion or an insertion) will depend on which strand is excised
and repaired and which strand is used as template in the DNA
repair process. Modified from Levinson and Gutman (1987).