Facioscapulohumeral Dystrophy Incomplete Suppression of a Retrotransposed Gene 英文参考文献.docVIP

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Facioscapulohumeral Dystrophy Incomplete Suppression of a Retrotransposed Gene 英文参考文献.doc

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Facioscapulohumeral Dystrophy Incomplete Suppression of a Retrotransposed Gene 英文参考文献

FacioscapulohumeralDystrophy:Incomplete SuppressionofaRetrotransposedGene LaurenSnider1.,LindaN.Geng1.,RichardJ.L.F.Lemmers2,MichaelKyba3,CarolB.Ware4,AngeliqueM. Nelson4,RabiTawil5,GalinaN.Filippova6,Silve`reM.vanderMaarel2,StephenJ.Tapscott1,6*,DanielG. Miller7 1Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America, 2Department of Human Genetics, Leiden UniversityMedicalCenter,Leiden,TheNetherlands,3LilleheiHeartInstituteandDepartmentofPediatrics,UniversityofMinnesota,Minneapolis,Minnesota,UnitedStates ofAmerica,4DepartmentofComparativeMedicine,UniversityofWashington,Seattle,Washington,UnitedStatesofAmerica,5DepartmentofNeurology,Universityof Rochester, Rochester, New York, United States of America, 6Department of Neurology, University of Washington, Seattle, Washington, United States of America, 7DepartmentofPediatrics,UniversityofWashington,Seattle,Washington,UnitedStatesofAmerica Abstract Each unit of the D4Z4 macrosatellite repeat contains a retrotransposed gene encoding the DUX4 double-homeobox transcription factor. Facioscapulohumeral dystrophy (FSHD) is caused by deletion of a subset of the D4Z4 units in the subtelomeric region of chromosome 4. Although it has been reported that the deletion of D4Z4 units induces the pathological expression of DUX4 mRNA, the association of DUX4 mRNA expression with FSHD has not been rigorously investigated,norhasanyhumantissuebeenidentifiedthatnormallyexpressesDUX4mRNAorprotein.WeshowthatFSHD muscleexpressesadifferentspliceformofDUX4mRNAcomparedtocontrolmuscle.Controlmuscleproduceslowamounts of a splice form of DUX4 encoding only the amino-terminal portion of DUX4. FSHD muscle produces low amounts of a DUX4mRNAthatencodesthefull-lengthDUX4protein.Thelowabundanceoffull-lengthDUX4mRNAinFSHDmusclecells representsasmallsubsetofnucleiproducingarelativelyhighabundanceofDUX4mRNAandprotein.Incontrasttocontrol skeletalmuscleandmostothersomatictissues,full-lengthDUX4transcr