CENTRAL DOGMA OF

MOLECULAR BIOLOGY
Mazidah zulfa
Suci rahmayanti
 Central Dogma

DNA code is transcribed as mRNA code and

then translated as amino acid code of the
resulting protein
Approximately 95% of DNA does
not code for proteins and may be
involved in regulation of gene
expression.
Genes control cellular activity
through 2 processes:
1. Transcription (expression)
2. Translation
• There are feedback and regulatory mechanisms of gene
expression that are both genetically and environmentally
determined.
• These mechanisms, such as methylation and histone
formation, can silence gene expression. In addition,
small segments of RNA can block mRNA.
• The study of the influence of these regulatory
mechanisms in gene and disease expression is known as
epigenetics.
 Transcription factors are proteins
that bind to specific DNA
sequences and thus control the flow
(or transcription) of genetic
information from DNA to mRNA.
Transcription factors perform this
function by promoting or repressing
the recruitment of RNA polymerase
to specific genes.
 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.
Many ophthalmic disease result from
transcription factor mutation:
•PAX6 mutations  aniridia, occasional
cases of peters anomaly, and several other
rarer phenotypes, specifically autosomal
dominant keratitis and dominant foveal
hypoplasia.
•PAX2 mutations  colobomas of the
optic nerve and renal hypoplasia
•PAX3 mutations  waardenburg Phenotypic expression of aniridia with PAX6 gene mutation.
The aniridic probands showed typical features of sclerocornea with nystagmus in
syndrome with dystopia canthorum proband 28–1 (A); Foveal hypoplasia in proband 27–1 (B);
Ptosis, microcornea with dislocated cataractous lens in proband 10–1 (C); Ectopia
lentis in proband 16–1 (D).

Source : PAX6 gene variations associated with aniridia in south India

May 2004. BMC Medical Genetics 5(1):9. DOI: 10.1186/1471-2350-5-9.