Sora Shin

Dr. Judith Pinto

Advanced Honors Biology [Orange]
14 January 214
Outline
!ntroduction
hoo"# $ree" %ythology & goddess o' the rain(o)# !ris
(rie' descri*tion o' eye color
'ocus to heterochro%ia
so%e in'o a(out heterochro%ia
one sentence (rie'ly %entioning the to*ics o' the (ody *aragra*hs
re'erences#
&&&&& htt*#++ghr.nl%.nih.gov+glossary,*olygenic
&&&&& htt*#++))).scienti'ica%erican.co%+article.c'%-id,ho)&does&
so%eone&get&t)o
&&&&& htt*#++))).livescience.co%+.2/04&)hy&do&so%e&*eo*le&have&
di''erently&colored&eyes.ht%l
Body 11# genetic 'actor# coding o' genes
derived 'ro% chro%oso%e 10 2hu%an3
45672 2B4513 gene is central (ro)n eye color gene
4567. 2B4523 codes 'or (ro)n+(lue eyes
derived 'ro% chro%oso%e 1/
45671 2$453 codes 'or green+(lue eyes
discuss %elanin8 %elanocytes8 and %elanoso%es
heterochro%ia iridu%
co%*lete heterochro%ia
inco%*lete heterochro%ia
re'erences
&&&&& htt*#++))).athro.co%+evo+gen+eyecols.ht%l
&&&&& htt*#++))).hudsonal*ha.org+education+outreach+(asics+eye&
color
&&&&& htt*#++))).nc(i.nl%.nih.gov+*%c+articles+P96.20/0::+
Body 12# genetic 'actor# ;aarden(urg<s syndro%e

re'erences#
&&&&& htt*#++))).%edicinenet.co%+heterochro%ia=iridis+*age2.ht%
&&&&& htt*#++ghr.nl%.nih.gov+condition+)aarden(urg&syndro%e
&&&&&
htt*#++))).nc(i.nl%.nih.gov+*%c+articles+P961/22>?4+*d'+can%eda@140&
11.*d'
Body 1.# environ%ental 'actor# siderosis (ul(i
several environ%ental 'actors
diseases 2glauco%a8 Parry&Ao%(erg syndro%e3
*hysical in@ury
in'la%%ation 2uveitis3
(leeding 2he%orrhage3
'oreign (odies in the eye
'ocus on siderosis (ul(i
re'erences#
&&&&& htt*#++))).visioneyeinstitute.co%.au+heterochro%ia+
&&&&& htt*#++))).%edicinenet.co%+heterochro%ia=iridis+*age2.ht%
&&&&& htt*#++oc).tu'ts.edu+data+.:+4?:/..*d'
&&&&& htt*#++archneur.@a%anet)or".co%+article.as*B-articleid,0>/12
6onclusion# interaction o' genetic and environ%ental 'actor

!n $ree" %ythology8 the %essenger goddess o' the rain(o) is na%ed !ris. Cot
sur*risingly8 the tinted co%*onent o' the eye(all is also a**ro*riately called the iris.
4ye color8 unli"e other genetically derived characteristics8 is a *olygenic trait8 )hich
%eans that its *henoty*e is a''ected (y %ore than one gene 2Polygenic8 2143. !n
the *ast8 it )as taught that eye color could only (e either (ro)n or (lue. Ho)ever8
that is not true. As a *olygenic trait8 eye color has an additional green allele. Cot
only is eye color %ore varied than *reviously thought8 (ut it can (e di''erent 'or each
eye 2$ross8 213. Dhis di''erence in coloration is called heterochro%ia iridu%. Dhere
are t)o ty*es o' heterochro%ia# co%*lete heterochro%ia and inco%*lete
heterochro%ia. 6o%*lete heterochro%ia is )here one iris is a co%*letely di''erent
color 'ro% the other iris. !nco%*lete heterochro%ia is )here an iris contains t)o
colors8 either at the center or one color s*lotched onto the other 29elina8 2113. Dhe
%any di''erent ty*es o' heterochro%ia iridu% are a''ected (y (oth genetic 'actors8
such as the eB*ression o' certain genes8 and environ%ental 'actors8 such as *hysical
in@uries or acEuired diseases.
Dhere are several genes that in'luence the *resence o' heterochro%ia. So%e
include the 45672 gene8 also "no)n as the B451 gene8 )hich is derived 'ro%
chro%oso%e 10 o' hu%ans and is the central (ro)n eye color geneF the 4567.
2B4523 gene8 also 'ro% chro%oso%e 108 )hich codes 'or the (ro)n and (lue alleles
o' eye colorF and the 45671 2$453 gene8 derived 'ro% chro%oso%e 1/ o' hu%ans8
)hich codes 'or green and (lue eyes 29orris8 1///F 7a%(8 2/3. Dhe )or"ing
condition o' these genes8 and %any others8 deter%ines the color o' a *erson<s eyes8
)hich can lead to heterochro%ia. Dhere are 'our %ain 'actors that deter%ine eye
color# the *ig%ent granules inside the *osterior *ig%ent e*itheliu%8 the
concentration o' the *ig%ent8 the nature o' the *ig%ent8 and the a(sor*tion
*ro*erties o' the eBtracellular stro%al %atrices 2Aennie8 2123. Gor heterochro%ia8
the associated genes control the ty*e and the a%ount o' a *ig%ent called %elanin
that %elanocytes *roduce and store in intracellular cha%(ers called %elanoso%es.
Although the nu%(er o' %elanocytes 'or each *erson is relatively very si%ilar8 the
nu%(er o' %elanoso%es )ithin each %elanocyte and the a%ount o' %elanin )ithin
each %elanoso%e di''ers 'ro% *erson to *erson 27a%(8 2/3. Dhe a%ount o'
%elanin is )hat deter%ines eye color# the %ore %elanin *roduced8 the dar"er the
color o' an eye )ill (e.
Another genetic 'actor that a''ects heterochro%ia is a genetic disorder called
;aarden(urg<s syndro%e8 )hich is a collection o' genetic conditions that are ca*a(le
o' causing hearing loss and changes in the *ig%entation o' hair8 s"in8 and eyes.
;aarden(urg<s syndro%e can (e caused (y %utations in the 4DC.8 4DCAB8 9!DG8
PAH.8 SCA!28 and SOH1 genes8 all o' )hich are involved in the co%*osition and
develo*%ent o' %elanocytes 2;aarden(urg syndro%e8 2143. As %elanocytes
signi'icantly in'luence the *ig%entation o' eyes8 this syndro%e greatly a''ects the
eB*ression o' the heterochro%ia *henoty*e 2Partington8 1/>43. 9any other
genetically derived syndro%es and diseases cause heterchro%ia as a result o' the
associated genes that are %utated such as chro%oso%e ? triso%y syndro%e8
neuro'i(ro%atosis8 and %osaicis% 2Dahl8 21.3.
9any environ%ental 'actors can i%*act the eB*ression o' the heterochro%ia
trait# diseases 2glauco%a8 Parry&Ao%(erg syndro%e38 *hysical in@ury to the eye8
(leeding 2he%orrhage38 'oreign (odies )ithin the eye8 and others 2Iision 4ye
!nstitute8 211F Dahl8 21.3. One *articular environ%ental 'actor is siderosis (ul(i8
)hich is the de*osition o' ioniJed iron in the intraocular tissues. Dhis results in the
'or%ation o' *otent oBidants 'ro% the Ha(er&;eiss reaction and causes the da%age
o' cell %e%(ranes and the inactivation o' enJy%es 2Cguyen8 2>3. ;ithin the eye8
all o' these a'tere''ects can induce a change in the color o' the iris. Biological and
che%ical changes can have an i%*act on ho) %uch %elanin is *roduced and8 thus8
can %a"e the color o' the iris lighter 2hy*o*lasia3 or dar"er 2hy*er*lasia3 2$ladstone8
1/>/3.
Both genetic and environ%ental ele%ents have re*ercussions on the
eB*ression o' the heterochro%ia iridu% *henoty*e. So%eti%es8 environ%ental
deter%inants cause genetically involved ra%i'ications8 such as *ig%ent dis*ersion
syndro%e. Other ti%es8 environ%ental 'actors (iologically and che%ically change the
color o' the iris8 such as siderosis (ul(i. Because heterochro%ia is a *articular
variation o' the (roader eye color *henoty*e8 any 'actors that a''ect the genes
associated )ith eye color8 s*eci'ically8 those involving %elanocytes and the
*roduction o' %elanin8 a''ect heterochro%ia as )ell.
;ord count# :.2
Ae'erences
Dahl8 A. A. 221.3. Heterochro%ia !ridis. MedicineNet. Aetrieved 'ro%
htt*#++))).%edicinenet.co%+heterochro%ia=iridis+*age2.ht%.
$ladstone8 A. 9. 21/>/3. Develo*%ent and Signi'icance o' Heterochro%ia o' the !ris.
Arch Neurol, 21. Aetrieved 'ro% htt*#++archneur.@a%anet)or".co%+article.as*B-
articleid,0>/12.
$ross8 S. J. 2213. Ho) does so%eone get t)o di''erent&colored eyes- Scientific
American. Aetrieved 'ro% htt*#++))).scienti'ica%erican.co%+article.c'%-id,ho)&
does&so%eone&get&t)o.
7a%(8 C. 22/3. Biotech Basics# $enetics o' eye color. The Science of Progress, 1.
Aetrieved 'ro%
htt*#++))).hudsonal*ha.org+sites+de'ault+'iles+*d'+genetics=o'=eye=color.*d'.
9elina8 A. 22113. ;hy Do So%e Peo*le Have Di''erently 6olored 4yes- LiveScience.
Aetrieved 'ro% htt*#++))).livescience.co%+.2/04&)hy&do&so%e&*eo*le&have&
di''erently&colored&eyes.ht%l.
9orris8 P. J. 21///3. Phenoty*es and $enoty*es 'or hu%an eye colors. Athro,
Limited. Aetrieved 'ro% htt*#++))).athro.co%+evo+gen+eyecols.ht%l.
Cguyen8 9. H. D. 22>3. Siderosis Bul(i. New England Medical enter. Aetrieved
'ro% htt*#++oc).tu'ts.edu+data+.:+4?:/..*d'.
Partington8 9. ;. 21/>43. ;aarden(urg<s Syndro%e and Heterochro%ia !ridu% in a
Dead School Po*ulation. anadian Medical Assocation !ournal, "#. Aetrieved 'ro%
htt*#++))).nc(i.nl%.nih.gov+*%c+articles+P961/22>?4+*d'+can%eda@140&
11.*d'.
Polygenic. 22143. !n $enetics %ome &eference. Aetrieved 'ro%
htt*#++ghr.nl%.nih.gov+glossary,*olygenic.
Aennie8 $. 22123. Don<t it %a"e %y (lue eyes (ro)n# heterochro%ia and other
a(nor%alities o' the iris. Pu'Med, 2(, 2/&0. doi#1.1.?+eye.211.22?
Iision 4ye !nstitute. 22113. Heterochro%ia. )ision E*e +nstitute. Aetrieved 'ro%
htt*#++))).visioneyeinstitute.co%.au+heterochro%ia+.
;aarden(urg syndro%e. 22143. !n $enetics %ome &eference. Aetrieved 'ro%
htt*#++ghr.nl%.nih.gov+condition+)aarden(urg&syndro%e.