Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but Not Hearing Loss in Rats Carrying Ednrbsl Mutations 英文参考文献.docVIP

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Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but Not Hearing Loss in Rats Carrying Ednrbsl Mutations 英文参考文献.doc

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Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but Not Hearing Loss in Rats Carrying Ednrbsl Mutations 英文参考文献

GeneticBackgroundStronglyModifiestheSeverityof SymptomsofHirschsprungDisease,butnotHearingLoss inRatsCarryingEdnrbsl Mutations RuihuaDang1,DaisukeTorigoe1,SariSuzuki2,YoshiakiKikkawa2,3,KanakoMoritoh1,NobuyaSasaki1, TakashiAgui1* 1Laboratory of Animal Science and Medicine, Department of Disease Control, Graduate School of Veterinary Medicine, Hokkaido University, Hokkaido, Japan, 2DepartmentofBioproduction,TokyoUniversityofAgriculture,Abashiri,Japan,3MammalianGeneticsProject,TokyoMetropolitanInstituteofMedicalScience,Tokyo Japan Abstract Hirschsprungdisease(HSCR)isthoughttoresultasaconsequenceofmultiplegeneinteractionsthatmodulatetheabilityof enteric neural crest cells to populate the developing gut. However, it remains unknown whether the single complete deletionofimportantHSCR-associatedgenesissufficienttoresultinHSCRdisease.Inthisstudy,wefoundthatthenull mutationoftheEdnrbgene,thoughtindispensableforentericneurondevelopment,isinsufficienttoresultinHSCRdisease whenbredontoadifferentgeneticbackgroundinratscarryingEdnrbslmutations.Moreover,wefoundthatthismutation results in serious congenital sensorineural deafness, and these strains may be used as ideal models of Waardenburg SyndromeType4(WS4).Furthermore,weevaluatedhowthesamechangedgeneticbackgroundmodifiesthreefeaturesof WS4 syndrome, aganglionosis, hearing loss, and pigment disorder in these congenic strains. We found that the same geneticbackgroundmarkedlychangedtheaganglionosis,butresultedinonlyslightchangestohearinglossandpigment disorder.Thisprovidedtheimportantevidence,insupportofpreviousstudies,thatdifferentlineagesofneuralcrest-derived cellsmigratingalongwithvariouspathwaysareregulatedbydifferentsignalmolecules.Thisstudywillhelpustobetter understandcomplicateddiseasessuchasHSCRandWS4syndrome. Citation: Dang R, Torigoe D, Suzuki S, Kikkawa Y, Moritoh K, et al. (2011) Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease,butnotHearingLossinRatsCarryingEdnrbslMutations.PLoSON