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MeganM.Cascio Biology Mr.Hill February21,2014 AnimalsandGeneticMutations Justlikehumans,animalscanhavegeneticmutationsanddisorders.However, thesemutationsaremoredeadlyandseriousthanhumanmutations.Theyalsocanhelp humanswiththeirdefectsthough.Dependingonwhoorwhatthegeneticmakeupisofthe animalorpersonthegeneticmutationcanaffectyourbodyinsuchawaythatthebody cannotkeepup,sothebodyeventuallygivesoutfromthedefectordisease. Downssyndromeisadisorderthatevolvesfromhaving47chromosomesinstead ofthenormal46resultinginintellectualimpairmentandphysicalabnormalities.Because whitebengaltigersareanendangeredspecies,butstillareatahighdemandforthem, breedershaveturnedtoinbreedingthem.Thismakesasmallgenepoolevensmaller.The breedershavetriedtocreatetheperfectandidealwhitetiger,indoingthistheyhave createdthefirsttigerwithdownssyndrome.HisnameisKennyandhelivedinazoowithin theUnitedStates.Unfortunately,likemostanimalswithgeneticmutations,Kenny developedanothermutationwhichwascancer.Thecancerkilledhimin2008.Thereare otherformsofgeneticmutationsthataresmallerbutjustasdeadly. Albinismisadisorderwherethereisalackofpigmentationintheeyes,skinand

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hair.Tohavealbinismyoualsomayhavecrossedeyes,lightsensitivity,visionproblemsor atypeofblindness.Animalswhoarealbinoareallwhiteandtheireyesareadeeppinkor alighticyblue.Thepigmentedgenesthatcanaffectalbinismarelocatedontheautosomal chromosome.Autosomesarethechromosomesthatcontrolthegeneralbody characteristics.Theprimarypigmentthatcontrolsalbinismiscalledmelanin,melanin determinesthefur,skinandeyesofthemammal.Melaninalsoaffectsthedevelopmentof ananimal'svision.Notallanimalsthatarewhitearealbino.Polarbearsarewhitebutif theyarenotalbinotheyarecalledleucistic.Melanincancomeintwocolorranges eumelaninwhichisadarkbrownandblackrangeandthenthereispheomelaninwhich isalightreddishbrowntoblonderange.Alongwithhelpingvision,melaninhelpsprotect theanimalfromsunlight.Protectionfromsunlightisthereasonanimalsandhumanscan avoidcancerandotherharmfulthingsfromsunrays.Melaninismadethroughacomplex chainofchemicalreactionsthataremadeupinacellcalledmelanocyte.Becauseitis suchacomplexprocess,therearemanythingsthatcanchangetheoutcomeofmelanin. Themostimportantfactorinthisprocessisaspecialenzymecalledtyrosinase.Withoutit, melanincannotbemade.Animalshaveaspecialgenethatdeterminesthepresenceof tyrosinaseincells.GeneticistscallittheTYRgene.Ifananimalisbornwithadamaged TYRgeneandnotawholeperfectone,melaninwontbemadecompletelyandtheanimal willbebornalbino.Thechanceofananimalbeingbornalbinois1in4chances.Currently, becausealbinoanimalsarerare,13stateshavemadehuntingthemillegal.Thecoat changedoesntaffecthowotheranimalsinteractwithalbinos,butthelackofmelanincan causecancerinananimalwhichisdeadly.Thesedefectscanhelppeopleinawaywhere

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wecanpreventcertainmutationsinhumans.Downbelowisachartexplaininghowifa motherandafatherofananimalarecarriersofalbinism,onlyoneinfouroffspringwillbe albinowhiletheotherswillonlybecarriersiftheyevenhavethealbinismgeneatall.

Ateamofgeneticistshavetriedtodecodethegenomesof10,000typesof animals.Theywilltrytostudytheanimalssequenceandusethattofindhowhowthey contributetohumanhealth.Thegenomeforahorsewasusedtocureblindnessand blisters.Mostlybecausehorsessufferfrommorethat90inheriteddiseasesandthat makesthemgreatmodelsforstudyinghumanconditions.Disorderswherethereisa damagedkeratingenehasbeendiscoveredtobeconnectedtopachyonychiawhichisa disorderwherepeoplegrowabnormallythicknailsandpainfulblistersonthehandsand feet.Somehorsesalsohaveleopardcomplexwhichmakessomehorseshavewhite

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patches.Alotofhorseswiththiscomplexalsosufferfromnightblindness,whichalso affectshumans.Findingthegenethatisthecauseofthecoatcolorcouldalsoleadthemto thecureofnightblindness.Anothergenomeisthepigwhichisusedtocureobesity,heart diseaseandorgantransplants.Pigsareusefulinstudyinghumansbecausetheyhavea similarbodymakeupwiththesizablebodyorganandmass.Thishelpsresearcherswith drugtesting,surgicaltechniquesandlifestyleproblemslikeheartdiseaseandobesity. AnotherreasonfordiscoveringthegenomeisbecausewhenH1N1spreadaround,theso calledswinefludidntmakethepigssick.Discoveringgenomesmayalsotellusthe reasonitdidntaffectthepigsandalsoshowsomeinsighttothelinkbetweenviralinfection andthewaythesicknessprogressesthroughyourbody.Pigsarealsothebestsourceof cellsandorgansforhumantransplants.Thelastgenomeistheonefrommansbestfriend. Thegenomeisthedog,usedtocureheartdisease,epilepsy,canceranddeafness. Betweenthefirstdomesticateddog,andnowthereareover400typesofdogs.Through thisbreeding,therehavebeendogspronetogeneticdiseasesincludingheartdisease, epilepsy,hipdysplasia,cancer,blindness,cataractsanddeafness.Morethan360ofthese diseaseshavecounterpartsinhumansandhavingthedoggenomewillcreatewaysfora newexperimentalgenetherapies.