Fa t Sheet 1 | MITOCHONDRIAL INHERITANCE

This fa t sheet des ri es the a i hi h the ge es lo ated ithi the ito ho dria a afe t a
i di idual s gro th, de elop e t a d health.

I su ar
Most of our ge es are lo ated o the DNA arra ged o hro oso es hi h are
fou d i the u leus of ea h ell
A s all u er of i porta t ge es are also lo ated o the DNA fou d i a other
o part e t of ea h ell alled the ito ho dria
The ito ho dria a d the DNA i side it are passed fro o e ge eraio to the
e t through the others egg ells.

DNA, GENES, CHROMOSOMES AND A CLOSER LOOK AT MITOCHONDRIAL DNA

MITOCHONDRIA
Our odies are ade up of illio s of ells. Ea h
ell o tai s a o plete op of a perso 's ge ei
ook of life.
Chro oso es a e thought of as ei g ade up
of stri gs of ge es DNA that odes for protei s
ith o - odi g DNA et ee the . The
hro oso es, i ludi g the ge es, are ade up
of a he i al su sta e alled DNA
Deo ri oNu lei A id .
Chro oso es are fou d i the u leus of all od
ells e ept for red lood ells hi h ha e o
u leus a d therefore do ot o tai
hro oso es.
A other pla e i the ell here DNA is fou d is i
er s all o part e ts alled ito ho dria the
e erg e tres of the ell that are fou d
s atered outside the u leus Figure . . The
DNA i ito ho dria is u h s aller a d has er
litle o - odi g DNA.
Mito ho dria are fou d ra do l s atered
outside the u leus ut sill ithi the ell. The
DNA ithi the ito ho dria is arra ged as o e
lo g ir le. The role of ito ho dria i ea h of the
ells of the od is ai l to a ufa ture e erg
for the ell a d therefore the rest of the od .
It is i porta t to re e er that hile ea h ell
ill al a s ha e o l o e u leus, the u er of
ito ho dria a ar fro o e ell to a other.
The ells i the od , espe iall i orga s su h as
the rai , heart, us le, kid e s a d li er, a ot
fu io or all u less the are re ei i g a
o sta t suppl of e erg . The ell s e erg
sour e is a he i al alled ATP ade osi e
triphosphate that is used to dri e the arious
rea io s esse ial for the od to fu io , gro
a d de elop.
A u er of io he i al rea io s that o ur i
a ordered se ue e ithi the ito ho dria are
respo si le for this pro ess of ATP produ io .
These rea io s are u der the o trol of spe ial
protei s alled e z es. The ge es fou d ithi
the ito ho dria o tai the i for aio that
odes for the produ io of so e of these
i porta t e z es.
The io he i al pro esses hi h o ur i the
ito ho dria a d produ e e erg ake up the
ito ho drial respirator hai . This hai is
ade up of i e o po e ts alled o ple es ,
, , a d 5. Ea h of these o ple es is ade up
of a u er of protei s. The i stru io s for these
protei s to e produ ed the ells are o tai ed
i a u er of difere t ge es.
There are a difere t ge es eeded to
produ e the o po e ts of the ito ho drial
respirator hai . o e of these ge es are fou d
i the ito ho dria a d others are i the u leus.
A ariaio i a ge e either i the u leus or
ito ho dria that reates a fault is alled a
pathoge i aria t or utaio .

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 Fa t Sheet 1 | MITOCHONDRIAL INHERITANCE

Figure 1 .1: Diagra of a hu a cell showi g uclear DNA which is fou d o chro oso es i the ucleus
of a cell a d the itocho drial DNA which is fou d i the e ergy ce tres of cells k ow as itocho dria.
Figure adapted fro the NHS Naio al Ge eics a d Ge o ics Educaio Ce tre.

A ito ho drial DNA utaio a result i
io he i al pro le s due to a se e of e z es
i ol ed i the respirator hai , or e z es that
are i paired a d do ot ork properl . This leads
to a redu io i the suppl of ATP, a d a
result i pro le s ith the od s fu io s.
WHAT DOES IT MEAN IF YOU HAVE A
MITOCHONDRIAL DNA GENE MUTATION?
The u er of ito ho dria i e er ell of a
perso s od aries fro a fe to hu dreds.
The egg ell o tai s a ito ho dria. If a
pari ular ge e i e er ito ho dria i a egg
ell has a utaio a d is therefore se di g the
i orre t i stru io s, the disrupio to e erg
produ io ould e so se ere that the earl
e r o ould pro a l ot sur i e.
The fa t that a perso sur i es to irth a d is
afe ted ith a ito ho drial o diio ea s
that the ust ha e i herited t o t pes of
ito ho dria fro his or her other: so e

o tai i g the orki g op of the ge e, a d

All of these ito ho dria, a d therefore the
DNA ithi the ito ho dria, des e d fro
the s all u er of ito ho dria prese t i
the origi al egg ell at the i e of that
perso s o epio
The sper o tri utes er fe
ito ho dria to the a . A i di idual s
ito ho dria are ge erall o l i herited
fro his or her other. A ariaio
utaio i o e of the ito ho drial ge es
that akes it fault , a therefore e passed
the other to a hild ia her egg ells
This pater of i herita e is therefore ote
referred to as ater al i herita e.
so e o tai i g the utaio .
The orki g op of the ito ho drial ge e ill
sill e a le to se d the right i stru io s, ut the
total a ou t of e erg produ ed a e
i pa ted a d a result i a ito ho drial
o diio .
O the other ha d, ha i g so e ito ho dria
ith a utaio a ot ause a pro le at all as
des ri ed elo .
A e a ple of ito ho drial ater al
i herita e
I so e ases, the ariaio i the ito ho drial
ge e o urs for the irst i e i the egg or at the
i e of ferilisaio of the egg.

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 Fa t Sheet 1 | MITOCHONDRIAL INHERITANCE

Figure 1 . : Mitocho drial i herita ce i a fa ily with a faulty utated itocho drial ge e Adapted fro :
Gree wood Ge eic Ce tre 995 : Cou selli g Aids for Ge eicists. Gree wood Ge eic Ce tre, USA

This is a e or spo ta eous ha ge that has
o urred to ake the pari ular ito ho drial
ge e fault . I this ase the afe ted perso is
the irst i the fa il to e afe ted the
o diio a d the o diio is des ri ed as
sporadi . If the afe ted perso is fe ale, she
a pass o the ito ho drial ge e utaio to
her hildre .
Usuall , ho e er, the ito ho drial utaio is
i herited fro a other hose o ells,
i ludi g her egg ells, o tai oth orki g a d
fault opies of this ito ho drial ge e. Figure
. is a e a ple of a fa il tree ith a pater
of i herita e of a ge ei o diio aused
fault ito ho drial ge e.
I Figure . the gra d other has o e or ore
fault ito ho drial ge es ut is ot afe ted
e ause she has e ough orki g opies to
e a le ost of the ito ho dria i her ells to
ork properl .
O e of the reaso s for this is thought to e
the threshold efe t of ito ho drial fault
ge es.
Due to the a that ito ho dria are ra do l
distri uted i to the egg ells he the eggs are
for i g i the o ar , ea h i di idual egg ell s
ito ho drial ake-up a ar fro ostl
orre t to ostl fault .
Therefore, all of the hildre of this
gra d other, regardless of the se of the
hild, ould i herit so e fault
ito ho dria
The hild ould o l de elop s pto s,
a ho e er, if the proporio of ito ho dria
ith the fault ge e rea hed a rii al le el
i e ough ells, hi h ould i terfere ith
e erg produ io i the od orga that is
ul era le to the o diio
It is o l he there are so a opies of
the fault ito ho drial ge es prese t i

the ells that the orki g opies are u a le

While she has passed o these fault
to pro ide e ough orki g ge e produ t,
ito ho drial ge es to her hildre , through
that the perso ill ha e the o diio
her egg, ot all are afe ted the o diio

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 Fa t Sheet 1 | MITOCHONDRIAL INHERITANCE

The u er of ito ho dria that are
fault a also ar fro o e ell to the
e t, a d so s pto s of the o diio
ill ot o ur u less there are e ough
ells, ith e ough fault ito ho dria i.e.
e eed the rii al le el .
o e e though t o of the gra d other s
u afe ted hildre i Figure . ha e
i herited the fault ito ho drial ge es, the
ha e ore orki g opies tha fault opies.
The gra d others daughters, ho e er,
are at risk of ha i g a hild afe ted ith
the ito ho drial ge ei o diio ,
regardless of hether the the sel es are
afe ted. It is dii ult to gi e a pre ise
esi aio of their risk as it ill depe d o
ho a fault ito ho dria are i the
egg at o epio , a d hi h issues a d
orga s ill ha e e ough ells ith fault
ito ho dria o er the rii al threshold

for the o diio to o ur.

While the father i the fa il sho i
Figure . is afe ted, his hildre are ot
at risk for i herii g the o diio as the
ast ajorit of the ito ho dria are
passed to hildre fro their other
through the eggs

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 Fa t Sheet 13 | MOSAICISM

This fa t sheet des ri es osai is hi h refers to the situaio here i di iduals ha e a i ture of ells
i their odies o tai i g difere t ge ei i for aio .

I su ar
Mosai is ea s that a perso has a i ture of ells ith difere t ge ei i for aio
Mosai is a o ur i the ells i o e part of the od su h as i the egg or sper
or i a ge eralised a throughout all of a perso s ells.

Our odies are ade up of illio s of ells. Ea h
ell o tai s a o plete op of our ge ei
i for aio or DNA. Our DNA o tai s the
i stru io s for gro th a d de elop e t a d is
pa kaged i to hro oso es that o tai all our
ge es.
A ariaio i a ge e that reates a fault is alled a
pathoge i aria t or utaio . Ge es are
se io s of DNA that ode for the protei s our
od eeds to fu io .
A utaio i a ge e ill afe t the od
difere tl depe di g o ho u h it ha ges the
resuli g protei , ho rii al that protei is to the
od a d ho u h of that protei is eeded i
the od .
A CLOSER LOOK AT MOSAICISM
Most i di iduals ha e the sa e a ou t of DNA
ith the sa e stru ture i all the ells i their
od , hether the are lood ells, ski ells or
us le ells. Mosai is refers to a situaio
here there is difere t DNA i difere t ells of
the od .
WHAT DOES IT MEAN IF YOU HAVE MOSAICISM?
All of the ge es are o tai ed i e er ell ut
o l the ge es that produ ed protei s e essar
for the ell ill e s it hed o . For a ge e
utaio to ause a pro le , its protei ust
ha e a i pa t o the ells of the issue or orga
i hi h it is prese t.
A perso a ha e a utaio dete ted i their
lood ells ut ot ha e the o diio asso iated
ith it.
For e a ple, a ge e utaio that ould usuall
i pa t o rai de elop e t a e fou d i the
lood of a or all fu io i g perso . This
ea s that the lood ells o tai the ge e
utaio ut the rai ells o tai o l the
orki g op of the ge e.
This perso has a i ture osai of ells i his/
her od . o e o tai the utaio lood ells
a d so e ha e the orki g op rai ells .
I rare ases, osai is a e plai the
aria ilit of s pto s i people ith the sa e
ge ei o diio .

o e people ith a ge ei o diio ha e so e It is, ho e er, i possi le to stud the ge es i

ells i the od ith the right DNA stru ture a d e er ell i the od , a d so e a ot al a s e
other ells ith a DNA ha ge. ertai if so eo e is osai for a ge e utaio
or ot.
Just as osai iles o a loor ha e a i ture of
pater s, so eo e ho is osai for a DNA
ha ge ill ha e a i ture of ells i their od .
Whe there is osai is i the egg or sper ells,
it is referred to as go adal or ger li e osai is .

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 Fa t Sheet 13 | MOSAICISM

Figure 13.1: Mosaicis occurs whe a cell ac uires a DNA cha ge or utaio duri g cell di isio . All cells that
arise fro the cell with the utaio will also carry the utaio , while other cells will co tai the or al ge e.

GERMLINE MOSAICISM MOSAICISM IN SPERM
CELLS AND EGG CELLS
A DNA utaio a ot e prese t i the od
ells, ut is i the ger ells egg or sper ells .
A i di aio that this is possi le is he a
health ouple ha e ore tha o e hild ith
a o diio that is usuall passed do
a afe ted pare t autoso al do i a t
i herita e .
Whe pare ts ha e o e hild ith a o diio
that is aused a autoso al do i a t ge e
utaio , ut either pare t has the ge e
utaio o a lood test, it is usuall assu ed
that the o diio i the hild o urred due to a
e or spo ta eous utaio i the egg or
sper , or shortl ater o epio .
If the ha e a se o d hild ith the sa e
o diio , the ha e of the o diio o urri g
agai e ause of a other spo ta eous utaio
i the sa e ge e is highl u likel .
The e pla aio a e that o e of the pare ts
is osai for the utaio i their ger ells that
produ e the egg or sper , ut ha e a orki g
op of the ge e i their od ells.

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 Fa t Sheet 14 | EPIGENETICS

This fa t sheet des ri es epige ei s hi h refers to fa tors that a i lue e the a our ge es are
e pressed i the ells of our od .

I su ar
Epige ei s is a phe o e o that afe ts the a ells e press or shut do
ertai ge ei i for aio
There are a u er of epige ei fa tors hi h a ha e a role i the a
ge ei i for aio is e pressed
Epige ei s does ot ha ge the ge ei i for aio ut a afe t the a the
i for aio is read or i terpreted the ell.

DNA AND GENES

DNA a e thought of like a e tre el lo g thi Epige ei fa tors are the ause of so e ge ei
stri g ade up of se io s that ode for protei s o diio s.
our ge es , a d se io s that do ot ode for T o ell u derstood epige ei e ha is s are
protei s. Protei s do the ork i our ells a d
des ri ed elo .
these are er i porta t for or al ell fu io
a d health. X-i a i aio is the epige ei s ste that
e a les e a d o e to ha e e ual
Ge es are stri gs of i stru io s arra ged i a e pressio of the ge es arried o the X
spe ii order like a re ipe for a er o ple ake. hro oso e despite the fa t that o e
The i gredie ts i the ake are protei s a d ho ha e t o X hro oso e opies a d e ha e
the are added, ho u h a d he is all o l o e

i porta t for the ge e produ t ake to tur out
Ge ei i pri i g is the epige ei s ste
orre tl .
here sta pi g of the ge ei i for aio
EPIGENETICS o urs a ordi g to hether it is i herited
The ter epige ei s o es fro the ords epi- fro the other or the father.
ea i g upo or o er a d ge ei s ea i g our
CHROMOSOMES IN THE BODY
ge es. Epige ei s a ha ge the a a ell reads
I ea h hu a ell, e ept the egg a d sper
the DNA essage i a u er of a s a d o e of
ells, there are hro oso es. Chro oso es
these a s is addi g tags or otes to the DNA
are fou d i pairs a d ea h pair aries i size. Thus
ases or stru tures that DNA raps arou d to
there are pairs of hro oso es, o e of ea h
ha ge the a i it ithi a ge e. o ei es
pair ei g i herited fro ea h pare t.
these tags gi e essages to a i ate the ge e a d
reate the protei , hile others stop the protei There are u ered hro oso es fro
fro ei g reated. the largest to the s allest: i.e. - . These are
alled autoso es
These tags are ot per a e t a d a ha ge
uite a lot o er i e. There are a u er of There are also t o se hro oso es, alled X
difere t t pes of tags or a s i hi h the DNA a d Y.
essages are o trolled. I fe ales, ells i the od ha e
hro oso es autoso es plus t o opies of
This is a er si ple a of e plai i g the reaso
the X hro oso e . Eggs fe ale reprodu i e
h so e ge es a e afe ted so ethi g i
ells are difere t as the o l o tai half of the
addiio to the DNA ode itself ithi a ell.
hro oso es ; ade up of u ered
hro oso es a d a X hro oso e .

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 Fa t Sheet 14 | EPIGENETICS

Figure 1 .1: At co cepio , the sper a d egg co i e to Figure 1 . : Chro oso e picture karyotype fro a ale
for the irst cell of a a y ,XY.

I ales, ells i the od ha e hro oso es O the other ha d, e ha e o l o e op of the

autoso es plus a X a d a Y hro oso e . X hro oso e i their ells so the o l ha e o e
per ale reprodu i e ells are difere t as op of the X hro oso e ge es.
the o l o tai half of the hro oso es I order to adjust this pote ial i ala e
ade up of u ered hro oso es a d a X et ee the ge ei i for aio i e a d
hro oso e or a Y hro oso e . o e , the ells ha e a s ste to e sure that
Whe the egg a d sper joi at o epio , the o l o e op of ost of the X hro oso e ge es
a ill ha e hro oso es i its ells, just i a fe ale ell is a i e. Most of the ge es o the
like the pare ts Figure . . other part er X hro oso e are i a i ated or
s it hed of. This e ha is e sures that o l
I a ge ei tesi g la orator , the hro oso es
the ge es lo ated o the a i e op of the X
a e oloured stai ed ith spe ial d es to
hro oso e are a le to e used the ell to
produ e disi i e a di g pater s. These
dire t the produ io of protei s.
pater s allo the la orator to he k the size a d
stru ture of the hro oso es. Figure . sho s As e gro a d de elop just like o e it is
a a ded hro oso e set fro a ale here o ious that o l o e op of the X hro oso e
ea h hro oso e has ee u ered fro the ge es are e essar to dire t or al gro th a d
largest hro oso e u er to the s allest de elop e t.
hro oso e u er a d arra ged i pairs i I a i aio of o e op of the X hro oso e i
order of size. We k o these hro oso es are fe ale ells e sures that oth e a d o e
fro a ale e ause of the X a d a Y. ha e the sa e u er of X hro oso e ge es
X-INACTIVATION i stru i g the od to gro , de elop a d
U like the Y hro oso e, the X hro oso e has fu io .
a ge es i ol ed i i porta t pro esses This s ste of s it hi g of o e of the X
eeded for health gro th a d de elop e t. hro oso e opies is see i all a als a d is
Wo e ha e t o opies of the X hro oso e i ote alled l o isaio , a ed ater Mar L o
their ells a d therefore their ells o tai t o ho irst des ri ed the s ste i 9 . It o urs
opies of the X hro oso e ge es. er earl i e r o i de elop e t i hu a s.

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 Fa t Sheet 14 | EPIGENETICS

Figure 1 .3: Mater al copy of the X chro oso e represe ted y M a d pater al copy of the X chro oso e
represe ted y P . Shortly ater co cepio either the ater ally i herited or pater ally i herited X
chro oso e is ra do ly i aci ated for i g a super-co de sed structure k ow as a Barr ody.

I ea h od ell so aic cell of a de elopi g These ge es are i the areas of the X a d Y

a girl, o e of the X hro oso es e o es
er shorte ed a d o de sed so that ost of its
ge es are ot a le to e read the ells. A
e a i aio of fe ale ells u der a i ros ope
Figure . re eals a dark shado i the ell
alled a Barr od , e ause the ere dis o ered
Murra Barr hi h is the i a i ated X
hro oso e.
This s ste of i a i aio i the od ells is
usuall ra do so that o e s odies ha e a
i ture of ells i regard to the i a i ated X
hro oso e. o e ells ill ha e the X
hro oso e s it hed of that a e fro their
other, hile other ells ill ha e the pater al X
hro oso e i a i ated. The relai e proporio
of ells ith a a i e ater al or pater al X
hro oso e aries fro fe ale to fe ale e e
et ee ide i al t i s e ause the pro ess is
usuall ra do .
X-i a i aio o l o urs i the so ai ells,
si e X hro oso es eed to e a i e i the egg
ells for their or al de elop e t.
X-i a i aio afe ts ost of the ge es lo ated
o the X hro oso e ut ot all. There are so e
ge es lo ated o the e d of the short p ar s of
the X a d Y hro oso es that are alled pseudo-
autoso al ge es.
hro oso es that pair up duri g the produ io
of sper ells i e .
o e ge es o the X hro oso e ha e their
part er or pair o the Y hro oso e. For
e a ple, the ge e alled )FK hi h odes for a
protei that is possi l i ol ed i the produ io
of oth egg a d sper ells.
Therefore, i ale ells, t o opies of these ge es
ould e a i e i the ell: o e o the X a d o e
o the Y hro oso e. I order for the sa e
u er of a i e ge es to e operai g i o e ,
these spe ial ge es o the X hro oso e are ot
s it hed of so that o e also ha e t o opies
of these ge es a aila le for the ell to use.
I addiio , a ge e alled XIST that is thought to
o trol the i a i aio pro ess itself, is ot
s it hed of.
Is the X-i a i aio pro ess al a s ra do ?
Wo e ho are arriers of a ge e utaio
hi h auses a ge ei o diio o o e of their X
hro oso es ill ha e so e ells i their od i
hi h the X ith the utaio is a i ated a d
other ells the orki g op of the ge e
i a i ated.

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 Fa t Sheet 14 | EPIGENETICS

The usual ra do pro ess of X-i a i aio ea s Just as there are t o opies of ea h hro oso e,
that these o e ould ot sho a s pto s there are t o opies of e er ge e arried o the
si e there ould e e ough ells ith the hro oso es u ered - i ea h ell of the
orki g op of the ge e to produ e the e essar od :

protei .
O e op o es fro the other the
arel , so e o e ha e ore ells i hi h the ater al op of the ge e

X hro oso e arr i g the utaio is a i e so O e op o es fro the father the pater al
that the sho so e of the s pto s of the op of the ge e
o diio . I these rare ases the X -i a i aio
has ee ske ed a d resear h is sill o goi g to Usuall , the i for aio o tai ed i oth the
u dersta d this pro ess. ater al op of the ge e a d the pater al op is
used the ells to ake protei produ ts
I other rare ases, o e ha e a stru tural
e ause oth the ater al a d pater al ge es are
ha ge of o e of their X hro oso es su h as a
usuall a i e or e pressed i the ells.
deleio issi g pie e or rearra ge e t of the
hro oso e aterial. Usuall it is this altered X The e pressio , ho e er, or a i it of a s all
hro oso e that is i a i ated rather tha the u er of the a ge es i the ells is
orki g op . depe de t o hether the ge e op as passed
do fro the father or the other.
While this a appear to e a prote i e
e ha is the ell, it is ore likel that the This pro ess, here the e pressio of a ge e
ells i hi h the orki g op is i a i ated do op is altered depe di g upo hether it as
ot sur i e e ause the deleted or ha ged X passed to the a through the egg or the sper ,
hro oso e ould e issi g seg e ts of is alled i pri i g.
i porta t ge es. The ter i pri i g refers to the fa t that so e
I addiio al other rare ases, o e ha e a hro oso es, seg e ts of hro oso es, or
spe ial t pe of hro oso e rearra ge e t i so e ge es, are sta ped ith a e or of the
their ells alled a tra slo aio here the X pare t fro ho it a e.
hro oso e is ata hed to o e of the u ered I the ells of a hild it is possi le to tell hi h
hro oso es. I the ells of these o e , it is hro oso e op a e fro the other
the orki g op of the X hro oso e that is ater al hro oso e a d hi h op as
usuall i a i ated, rather tha the rearra ged i herited fro the father pater al hro oso e .
tra slo ated X hro oso e op . This e pressio of the ge e is alled a pare t of
If the tra slo ated X hro oso e as i a i ated, origi efe t a d as irst des ri ed Hele
ot o l ould the pro ess s it h of the X Crouse i 9 .
hro oso e ge es ut also those o the other Ho does i pri i g o ur?
hro oso e that are ata hed to it. The ells i It is thought that there are a u er of
hi h the tra slo ated hro oso e as e ha is s here the ge e a e sta ped
i a i ated ould e issi g a large u er of so that the e pressio of the i herited ge ei
i porta t ge es lo ated o the autoso e a d i for aio is odiied a ordi g to hether it is
ould e u likel to sur i e. passed to a hild through the egg or the sper .
GENETIC IMPRINTING This odii aio deter i es hether the
As e io ed a o e, ea h hu a ell, e ept the i for aio o tai ed i the ge e op is
egg a d sper ells, o tai hro oso es. e pressed or ot. Ge ei i pri i g or ge o ic
Chro oso es are fou d i pairs a d ea h pair i pri i g is the a e gi e to this odii aio
aries i size. Thus there are pairs of pro ess.
hro oso es, o e of ea h pair ei g i herited
fro ea h pare t.

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Figure 1 . : Mater al copy of the ge e represe ted y M a d pater al copy of the ge e represe ted y P .
Usually oth copies of a ge e are aci e, i rarer cases o e copy, either ater al or pater al ay e i pri ted or
switched of .

As sho i Figure . , if the ge e op is Joa i Ge eraio I has a ge ei o diio

odiied, it ill e tur ed of i that perso a d aused a ge e utaio she i herited fro her
the ells ill ot produ e a produ t fro that father.

i pri ted ge e op . O l the fault essage tra slated fro her
It is i porta t to re e er that this pro ess is father s ge e utaio is e pressed Joa s
ot a utaio or ariaio i the ge ei ode ells

si e the ge e se ue e itself is u ha ged. The orki g op of the ge e, i herited fro
E e though oth i pri i g of a ge e a d a her other, is s it hed of as it passed to her
utaio i a ge e pre e t the ge e op through her other s egg

fro aki g the appropriate ge e produ t T o of Joa s hildre , Mar a d Ji i
Figure . , a utaio is a ore Ge eraio II, i herited the ge e utaio
per a e t ha ge tha a i pri i g fro Joa . The also re ei ed a orki g op
difere e of the ge e fro their father

The i pri i g odii aio pro ess is Neither Mar or Ji ha e the o diio
re ersi le i the e t ge eraio as des ri ed e ause this ge e utaio is s it hed
elo of i a i e he i herited fro the other
Whe a ge e has a utaio , if it is also passed do the ater al li e

su je t to i pri i g, the e pressio of that Thus the o l op of the ge e hi h is a i e
ge e is further i pa ted. i Ji a d Mar is the orki g op hi h
E a ple of I pri i g the i herited fro their father: the are
therefore u afe ted the o diio .
a A ater ally i pri ted ge e is switched of
I Figure .5 the ge e op i herited a hild I porta tl , oth Ji a d Mar ha e, i ea h of
fro their other through the egg that is their ells, a fault , i a i e op of this ge e
ausi g the o diio is al a s s it hed utaio i herited fro their other a d a
of i pri ted . The ge e op re ai s a i e orki g, a i e ge e op i herited fro their
he passed to the a through the sper fro father . Therefore, Mar a d Ji ha e a 5 %
their father. ha e of passi g the ge e utaio o to their
hildre .

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Figure 1 . : The faulty ge e copy causi g the co diio is always switched of i pri ted whe it passes to the a y
through the egg. It re ai s aci e whe passed to the a y through the sper .

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 Fa t Sheet 14 | EPIGENETICS
Whe Mar s egg ells de elop, half of her ells
ill o tai the orki g op of the ge e a d half
ill o tai the utaio .
Whe the utaio is passed do to a hild
through the egg, ho e er, it is s it hed of
Therefore, o e of Mar s hildre
Ge eraio III , e e those ho i herit the
utaio , ill e afe ted the o diio .
This is e ause the ge e is al a s s it hed
of he passed through the other.
Whe Ji s sper ells de elop, half of his ells
ill o tai the orki g op of the ge e a d half
ill o tai the utaio .
If the utaio is o tai ed i the sper , it
re ai s a i e i.e. it is ot s it hed of
Thus, a of Ji s hildre ho i herit the
utaio fro hi ill ha e this a i e ge e
i their ells e ause the ge e al a s
re ai s a i e he passed through the
father
Ji s hildre ill e afe ted the
o diio e ause the ge e utaio is the
o l a i e o e the ha e. The orki g op
the re ei ed fro their other Ji s
part er ill e s it hed of.
This sa e pater of i herita e, here the ge e
is s it hed of as it passes through the ater al
li e, ut re ai s a i e he it is passed through
the pater al li e, ill o ur i the e t
ge eraio .
Be , Ji s afe ted so , a also ha e
afe ted hildre if the re ei e the utaio
fro Be
O the other ha d, Claire, Ji s afe ted
daughter, ill ot ha e hildre ith the
o diio as the ge e op ill ot e a i e
he passed to her hildre .
The sa e situaio a happe i re erse he
o sideri g i pri i g of a pater al ge e. The
ge e ausi g the o diio is s it hed of he it
is passed fro the father, to his hildre , through
the sper a d re ai s a i e he passed the
other, to her hildre , i the egg.
.ge ei s.edu.au
Whe does ge ei i pri i g o ur?
Ge ei i pri i g o urs i the o ar or tesis
earl i the for aio of the eggs a d sper .
o e ge es are i pri ted so that the are
s it hed of or i a i e o l if the are passed
do through a egg ell; others ill e
i a i ated o l if the are passed do through
a sper ell.
I pri i g ill the o ur agai i the e t
ge eraio he that perso produ es his or her
o sper or eggs.
I pri i g of Chro oso es: U ipare tal
Diso
U ipare tal diso UPD o urs he a
i di idual re ei es oth opies of a hro oso e
fro o e pare t o l . Therefore the hild i herits
so e of their ge es fro o e pare t o l
u ipare tal rather tha the usual situaio
here o e op of ea h ge e is i herited fro
the father, a d the other fro the other
ipare tal i herita e .
Where the hro oso e i ol ed i the UPD is
i pri ted, there a e i pli aio s for that
i di idual. For i sta e, if there is UPD for
hro oso e 5, there are difere t possi le
out o es:
If oth opies of hro oso e 5 are
i herited fro the other ater al UPD , a
ge ei o diio alled Prader Willi
s dro e o urs
If oth opies of hro oso e 5 are
i herited fro the father pater al UPD a
difere t ge ei o diio alled A gel a
s dro e o urs.
These t o disi tl difere t o diio s ha e
features i ludi g i telle tual i pair e t a d
hara terisi fa ial features.
Difere t o diio s result fro the UPD ei g
ater al or pater al, si e the efe t of
i pri i g auses difere t ge es to e s it hed
of i ea h ase.
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