PROTEIN SYNTHESIS

https://youtu.be/bKIpDtJdK8Q
nucleus (transcription, mRNA produced) → cytoplasm → ribosome (translation occurs)
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TRANSCRIPTION (DNA → mRNA)

anti-sense /
template → 3’ TTA | TGG | GGA | CTT 5’
(answer)

sense / coding → 5’ AAT | ACC | CCT | GAA 3’

mRNA / → 5’ AAU | ACC | CCU | GAA 3’

messenger RNA

tRNA /
transfer RNA → 3’ UUA | UGG | GGA | CUU 5’
(question)

amino acid → leu | trp | gly | leu

(question)

sense = mRNA (T becomes U)

anti-sense = tRNA (T becomes U)

TRANSLATION (mRNA → Protein)

MUTATION

point mutations:
a. missense mutation: when only one base is changed, resulting in a change of amino acid

normal → CAT | CAT | CAT | CAT

amino acid → His | His | His | His
mutated → CAT | CAT | CCT | CCT
amino acid → His | His | Pro | His

b. nonsense mutation: the mutation occurs so the dna results in an uncompleted sequence
normal → ATG | GAA | GCA | CGT
amino acid → Met | Glu | Ala | Gly
mutated → ATG | TAA | GCA | CGT
amino acid → Met | Stop

c.silent mutation: when a mutation occurs but no change is made to the amino acid because
multiple codons can code for the same amino acid

normal → TAC | GGT | AGT | CAA

amino acid → Met | Pro | Ser | Val
mutated → TAC | GGT | AGT | CA T
amino acid → Met | Pro | Ser | Val

frameshift mutations:
a. frameshift mutation: the insertion/deletion of a base, resulting in a frameshift of sequence

normal → CAG | CCC | ACT

amino acid → Gln | Pro | Thr
mutated → CAG | TCC | CAC | T
amino acid → Gln | Ser | His | ?

DISEASE MUTATIONS

a. turner’s syndrome (chromosomal mutation)

- monosomy x → an x chromosome is missing in all the cells in the body, resulting in only
45 chromosomes in the karyotype (aneuploidy, a result of nondisjunction / gagal pisah
during meiosis/pembelahan sel)
- mosaicism x → an x chromosome is missing in SOME cells in the body, the more cells
with missing x chromosomes, the worse the symptoms (also aneuploidy)
- mosaicism x → one x chromosome is partially deleted/defected, the only case where
turner’s syndrome is inherited from the parent
- causes a lack of ‘femaleness’ in individuals and developmental problems.

b. cystic fibrosis (gene mutation)

- mutations → cystic fibrosis transmembrane conductance regulator (CFTR) gene
causes the CFTR protein to become dysfunctional.
- causes bodily fluids such as mucus to be thick and sticky and plug passageways
/ airways.

c. polydactyly
- if the mutation occurs on its own, it is considered as an autosomal (non-sex
chromosome) dominant mutations in single genes.
 - it can also be caused by mutations in a variety of genes.
- characterized by a condition in which a baby is born with one or more extra fingers/toes.

d. sickle-cell anemia
- mutation in the hemoglobin-Beta gene found on chromosome 11, results in a change in
one of the bases in the DNA sequence from an A to T (codes for glutamic acid → valine)
- results in a different type of haemoglobin (HbS), red blood cells that have a sickle shape
and cannot carry oxygen normally → lack of healthy RBC.

e. thalassemia
- autosomal (non-sex chromosome) recessive disease resulting from mutations in the α-
and β-globin gene clusters on chromosome 16 and chromosome 11.
- the body has fewer haemoglobin than normal.

f. cri du chat syndrome (chromosomal mutation)

- a chromosomal disorder caused by a partial deletion (monosomy) of a varying length of
the short arm (p) of chromosome 5.
- result in a high-pitched cry, a small head and a flattened bridge of the nose.

g. klinefelter syndrome (chromosomal mutation)

- monosomy x → an extra x chromosome is present in all the cells in the body, resulting in
47 chromosomes in the karyotype
- mosaicism x → an extra x chromosome is present in SOME cells in the body, the more
cells with extra x chromosomes, the worse the symptoms
- Or, more than one extra copy of the x chromosome → lethal
- males are born with low testosterone and reduced muscle mass, facial hair and body
hair, producing little or no sperm.

h. fragile x syndrome
- caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is
expanded within the FMR1 gene. normally, this DNA segment is repeated 5-40 times. in
people with fragile X syndrome, the CGG segment is repeated more than 200 times.
- FMR1 is a gene located on the X chromosome that produces a protein called FMRP
needed for proper cell function.
- causes speech delays, anxiety and hyperactivity, as well as seizures. physical features
include large ears, a long face, a prominent jaw and forehead and flat feet.