(,N MU1ATlONS
Substitution - nucleotide replaced with a d1tter ent nucleotide
forms stop codon - short prolein nontuntimal
torms ditterent amino acid - may diter in shape
toms same amino acud - deqenerate code no ettect on protein
Deletin - loss ot nuieotides trom DNA sequene
caws es trame shitt ikely nonfunction1ng prot ein
deleted base near end ot sequena ha a smale impat
Additon extra nucleotides n slquenu
usually cawses a trare shitt non tundihing protein
it multiplu ot three bases added ,no trame shitt
Sma ettect on polypepttde shape
Dupl1catiCn, - One or repeated
moR bses at
causes a trame shitt nomtunctning protein
lnversin - group ot bases atatched in opposia odu
orde
affect te amino auds coded for by nve ted sequena
Some sequences don't chonge. eg AAAA
Transloat1wn group ot bases become sepnated trom seqvena
0ne chromosome aund at lnseted jnto another hromoSme
Siqnifiont ettes non tunctioming poyp tider.
Causes ot mutations i
Spontaneous mutations during DANA repl1catiom
Basie mutation rote mereased by mutoginic ayents
high eneyy mis1ng rad1at1 on, chemican
MutatMS providi qenetie diversity tor natual selectiem
Mutations are otten harmtl, and can result in anw or death
, call organismm has the same
qenes. Howwer only
Every
crta genes are
an
enpressed In any wll at any Une tme
in al cslls. eq respiration
enpressed
Some genes at penmanentybranslat ribosomes,
and non protems
en zymes, transcription
memb rane synthess enzymes
Totipoteny singie tetilised egg that is capablu ot
trom a mitosi
Hn organism deelops These totpotent alls undugo
matung into any þoay wl.
and beleome non speialised.
Speualised ulls, e.g musda ls, neve cls, ony malee the
tunctions.
protens required for their specialistwould waste valuabe energy
Mak1ng proteins thataren't needed
and resowes - genes ae not expressed by prerenting
latn.
transriphen, pro dution ot mRNA or trass
Stem els
can seltrenew
Stem wls a und1tterentiated diuding ls that
Totpotent- tound in early embryo and zygot
Lan dittvntiatu into any al type
Pluipotent tound in mon dewelaped embryos
ditteentiat into aim ost ay ell bype
ord blood
Multipotent fond In bone marow and umbilial
b limited spenaisation
Unipotent ony ditt eentiat into asingle c l ty.
lndwced Purpotent stem cels
produei trom unnpot ent stem es in the bo dy that have been
gereticay adtered by nd-rg inducing gen es and transripton al
totors. They become plunpotent.
PS cls ave very Similar to embyon stemn lls
LPS ells at aiso copabl ot wl self renewal
replau embrynie stem cws in
in medical treatme,t and reslarch
regrow tiss ues damaged, treat neurodegenatve diseases,
typel diabetes, osteoporos:s
Substitution - nucleotide replaced with a d1tter ent nucleotide
forms stop codon - short prolein nontuntimal
torms ditterent amino acid - may diter in shape
toms same amino acud - deqenerate code no ettect on protein
Deletin - loss ot nuieotides trom DNA sequene
caws es trame shitt ikely nonfunction1ng prot ein
deleted base near end ot sequena ha a smale impat
Additon extra nucleotides n slquenu
usually cawses a trare shitt non tundihing protein
it multiplu ot three bases added ,no trame shitt
Sma ettect on polypepttde shape
Dupl1catiCn, - One or repeated
moR bses at
causes a trame shitt nomtunctning protein
lnversin - group ot bases atatched in opposia odu
orde
affect te amino auds coded for by nve ted sequena
Some sequences don't chonge. eg AAAA
Transloat1wn group ot bases become sepnated trom seqvena
0ne chromosome aund at lnseted jnto another hromoSme
Siqnifiont ettes non tunctioming poyp tider.
Causes ot mutations i
Spontaneous mutations during DANA repl1catiom
Basie mutation rote mereased by mutoginic ayents
high eneyy mis1ng rad1at1 on, chemican
MutatMS providi qenetie diversity tor natual selectiem
Mutations are otten harmtl, and can result in anw or death
, call organismm has the same
qenes. Howwer only
Every
crta genes are
an
enpressed In any wll at any Une tme
in al cslls. eq respiration
enpressed
Some genes at penmanentybranslat ribosomes,
and non protems
en zymes, transcription
memb rane synthess enzymes
Totipoteny singie tetilised egg that is capablu ot
trom a mitosi
Hn organism deelops These totpotent alls undugo
matung into any þoay wl.
and beleome non speialised.
Speualised ulls, e.g musda ls, neve cls, ony malee the
tunctions.
protens required for their specialistwould waste valuabe energy
Mak1ng proteins thataren't needed
and resowes - genes ae not expressed by prerenting
latn.
transriphen, pro dution ot mRNA or trass
Stem els
can seltrenew
Stem wls a und1tterentiated diuding ls that
Totpotent- tound in early embryo and zygot
Lan dittvntiatu into any al type
Pluipotent tound in mon dewelaped embryos
ditteentiat into aim ost ay ell bype
ord blood
Multipotent fond In bone marow and umbilial
b limited spenaisation
Unipotent ony ditt eentiat into asingle c l ty.
lndwced Purpotent stem cels
produei trom unnpot ent stem es in the bo dy that have been
gereticay adtered by nd-rg inducing gen es and transripton al
totors. They become plunpotent.
PS cls ave very Similar to embyon stemn lls
LPS ells at aiso copabl ot wl self renewal
replau embrynie stem cws in
in medical treatme,t and reslarch
regrow tiss ues damaged, treat neurodegenatve diseases,
typel diabetes, osteoporos:s
