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1、EDITORIALS&PERSPECTIVESGeneticvariationinhepcidinexpressionanditsimplicationsforphenotypicdifferencesinironmetabolismHenryK.Bayele,andSurjitKailaS.SraiDepartmentofStructuralandMolecularBiology,DivisionofBiosciences,UniversityCollegeLondon,London,UK.E-mail:
2、kaila@biochem.ucl.ac.uk.doi:10.3324/haematol.2009.0107937ronhomeostasis,likeotherphysiologicalprocesses,represshepcidintranscriptioninfishsuggestingthatdif-Ireliesonpreciseandtimelyinteractionsbetweenkeyferencesinthecomplementofsexhormonescouldproteinsinvo
3、lvedineitheritsuptakeorrelease.Atinducesomevariationinhepcidinexpressionwithinandthecoreofthisishepcidin,asmallacutephaseantimi-betweenthesexes;thismayunderlievariationinhep-crobialpeptidethatnowalsoappearstosynchronouslycidinexpressionandliverironloadingb
4、etweenmales3-5,7-9orchestratetheresponseofirontransporterandregula-andfemales.torygenestoensureproperbalancebetweenhowRegulatoryvariationinhepcidinexpressionmaybemuchdietaryironisabsorbedbythesmallintestineordeterminedbypolymorphiccis-acting,non-coding1rel
5、easedintothecirculationbymacrophages.Severalregionsofthegene.Thustheseregionsarejustascrucialstudiessuggestthattherearestronggeneticcompo-toquantitativedifferencesinitsexpressionaspointnentsthatunderliehepcidinregulationbeyondtheusualmutationswithinitsopen
6、-readingframe(ORF)becausesuspects(i.e.infection,inflammation,erythropoiesis,someoftheseregionscontaintranscriptionfactor-bind-hypoxiaandiron),inamannerthatcouldimpingeoningsites.Trans-actingfactorsalsodeterminehepcidinphenotypicdifferencesinsusceptibilityt
7、oiron-over-expressionvariation;theseincludetranscriptionfactors2loadoranemia.Basedonvariationinhepcidinexpres-andironregulatoryormodifierproteins.Structuralvari-sionphenotypes,newemergingdatasuggestthatthereationinthehepcidingenei.e.genedosageorcopynum-10a
8、reheritableregulatorypolymorphismswithinthepro-berpolymorphism,inversionsandinsertions,mayalsomoterthatarelinkedtodiseasesofironmetabolism.determinevariabilityinitsexpression.WeconjectureHereweprovideaperspec
