Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed 英文参考文献.docVIP

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Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed 英文参考文献.doc

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Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed 英文参考文献

ParallelMappingandSimultaneousSequencingReveals DeletionsinBCANandFAM83HAssociatedwithDiscrete InheritedDisordersinaDomesticDogBreed OliverP.Forman1*,JacquesPenderis2.,ClaudiaHartley1.,LouisaJ.Hayward1,SallyL.Ricketts1, CathrynS.Mellersh1 1KennelClubGeneticsCentre,AnimalHealthTrust,Kentford,UnitedKingdom,2TheSchoolofVeterinaryMedicine,UniversityofGlasgow,Glasgow,UnitedKingdom Abstract Thedomesticdog(Canisfamiliaris)segregatesmorenaturally-occurringdiseasesandphenotypicvariationthananyother speciesandhasbecomeestablishedasanunparalledmodelwithwhichtostudythegeneticsofinheritedtraits.Weuseda genome-wideassociationstudy(GWAS)andtargetedresequencingofDNAfromjustfivedogstosimultaneouslymapand identifymutationsfortwodistinctinheriteddisordersthatbothaffectasinglebreed,theCavalierKingCharlesSpaniel.We investigatedepisodicfalling(EF),aparoxysmalexertion-induceddyskinesia,alongsidethephenotypicallydistinctcondition congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID), commonly known as dry eye curly coat syndrome. EF is characterised by episodes of exercise-induced muscular hypertonicity and abnormal posturing, usually occurringafterexerciseorperiodsofexcitement.CKCSIDisacongenitaldisorderthatmanifestsasaroughcoatpresentat birth,withkeratoconjunctivitissiccaapparentoneyelidopeningat10–14days,followedbyhyperkeratinisationoffootpads anddistortionofnailsthatdevelopsoverthenextfewmonths.WeundertookaGWASwith31EFcases,23CKCSIDcases, andacommonsetof38controlsandidentifiedstatisticallyassociatedsignalsforEFandCKCSIDonchromosome7(P raw 1.9610214;Pgenome=1.061025) andchromosome13 (Praw 1.2610217;Pgenome=1.061025),respectively. We resequenced both the EF andCKCSID disease-associated regionsin just five dogs andidentified a15,724bpdeletionspanning three exonsofBCANassociatedwithEFandasinglebase-pairexonicdeletioninFAM83HassociatedwithCKCSID.NeitherBCANor FAM83Hhavebeenassociatedwithequivalentdiseasephenotypesinanyotherspecies,thusdemonstratingtheabilityto use