DOGMA CENTRAL DALAM

BIOLOGIMOLEKULAR
ANDITTA SYIFARAHMAH
DOGMA CENTRAL
Proses ekspresi
gen yang
mengikuti
tahapan-
tahapan dalam
info genetik
yang terdiri
proses
transkripsi DNA
 RNA, dan
 TRANSKRIPSI
 MERUPAKAN SINTESIS MOLEKUL RNA
DALAM TEMPLATE DNA
 PROSES INI TERJADI DALAM INTI SEL
(NUKLEUS) TEPATNYA PADA
KROMOSOM.
 KOMPONEN YANG TERLIBAT YAITU:
DNA TEMPLATE YANG TERDIRI DARI
BASA NUKLEOTIDA DAN ENZIM
POLIMERASE RNA
 TRANSLASI

 PROSES PENTERJEMAHAN URUTAN NUKLEOTIDA MOLEKUL

MRNA YANG ADA DALAM RANGKAIAN ASAM AMINO YANG
MENYUSUN SUATU POLIPEPTIDA ATAU PROTEIN.
 KOMPONEN DIBUTUHKAN DALAM PROSES PENERJEMAHAN
ADALAH: MRNA, RIBOSOM, TRNA, DAN ASAM AMINO
 HUMAN GENOME

• APPROXIMATELY 10% OF GENES IN THE HUMAN GENOME CODE FOR TRANSCRIPTION FACTORS. THEY
CONTAIN ONE OR MORE DNA-BINDING DOMAINS, WHICH ATTACH TO SPECIFIC SEQUENCES OF DNA
ADJACENT TO THE GENES THAT THEY REGULATE
• PAX6 ACTS AS A MASTER CONTROL GENE FOR THE DEVELOPMENT OF THE EYE AND IS AN EXAMPLE OF
THE IMPORTANCE OF TRANSCRIPTION FACTORS IN EMBRYOGENESIS.
• MANY OPHTHALMIC DISEASES RESULT FROM TRANSCRIPTION-FACTOR MUTATIONS.
• PAX2 MUTATIONS  COLOBOMAS OF THE OPTIC NERVE AND RENAL HYPOPLASIA.
• PAX3 MUTATIONS  WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM
• PAX6 MUTATIONS  ANIRIDIA, OCCASIONAL CASES OF PETERS ANOMALY, AND SEVERAL OTHER RARER
PHENOTYPES, SPECIFICALLY AUTOSOMAL DOMINANT KERATITIS AND DOMINANT FOVEAL HYPOPLASIA.
 INTRON
EXCISION
• MESSENGER RNA UNDERGOES EXCISION OF THE INTRONS BY A HIGHLY ORGANIZED
PROCESS CALLED SPLICING, WHICH LEAVES THE MRNA COMPOSED OF ONLY EXONS, OR
CODING SEGMENTS
• APPROXIMATELY 15% OF POINT MUTATIONS THAT CAUSE HUMAN DISEASE DO SO BY THE
GENERATION OF SPLICING ERRORS THAT RESULT IN ABERRATIONS SUCH AS EXON SKIPPING
OR INTRON RETENTION
 ALTERNATIVE SPLICING & METHYLATION
ISOFORMS
• ALTERNATIVE SPLICING IS THE CREATION OF MULTIPLE • REGIONS OF DNA THAT ARE
PRE-MRNA SEQUENCES FROM THE SAME GENE BY THE
ACTION OF DIFFERENT PROMOTERS.
UNDERGOING TRANSCRIPTION LACK
• VEGF RECEPTOR 1 IS A KEY BLOOD VESSEL RECEPTOR
5-METHYL CYTOSINE RESIDUES,
THE PRIMARY MEDIATOR OF ANGIOGENESIS (VEGF) WHICH NORMALLY ACCOUNT FOR
• CORNEA , HIGH LEVELS OF AN ALTERNATIVELY SPLICED 1%–5% OF TOTAL DNA.
ISOFORM, SOLUBLE VEGF RECEPTOR 1 (SVEGFR-1) ARE
EXPRESSED  SOLUBLE, IT IS PRESENT IN THE • CLOSE CORRELATION BETWEEN
EXTRACELLULAR MATRIX AND SERVES AS AN METHYLATION AND GENE
ENDOGENOUS VEGF TRAP OR DECOY RECEPTOR.
INACTIVATION
WITHOUT IT, THE CORNEA BECOMES VULNERABLE TO
VASCULAR INVASION.
 X INACTIVATION
• THE RANDOM INACTIVATION OF 1 OF THE 2 X
CHROMOSOMES IN THE FEMALE  LACK OF
EXPRESSION OF THE MAJORITY OF GENES ON
THAT CHROMOSOME  SIGNIFICANT EVENT
DURING EARLY DEVELOPMENT OF THE HUMAN
EMBRYO.
• X-INACTIVATION IS ALSO KNOWN AS
LYONIZATION AFFECTS THE SEVERITY OF THE
PHENOTYPE OF SEVERAL XLINKED RETINAL
CONDITIONS, SUCH AS RP AND INCONTINENTIA
PIGMENTI
IMPRINTING
• GENETIC IMPRINTING, ALSO CALLED
ALLELE-SPECIFIC MARKING, IS A
HERITABLE YET REVERSIBLE PROCESS BY
WHICH A GENE IS MODIFIED, DEPENDING
ON WHICH PARENT PROVIDES IT.
• PRADER-WILLI AND ANGELMAN
SYNDROMES ARE EXAMPLES OF
DISEASES RESULTING FROM
ABNORMALITIES OF IMPRINTING.
 TERIMA KASIH
MOHON BIMBINGAN