Mutation in Archain 1, a Subunit of COPI Coatomer Complex, Causes Diluted Coat Color and Purkinje Cell Degeneration 英文参考文献.docVIP

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Mutation in Archain 1, a Subunit of COPI Coatomer Complex, Causes Diluted Coat Color and Purkinje Cell Degeneration 英文参考文献.doc

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Mutation in Archain 1, a Subunit of COPI Coatomer Complex, Causes Diluted Coat Color and Purkinje Cell Degeneration 英文参考文献

MutationinArchain1,aSubunitofCOPICoatomer Complex,CausesDilutedCoatColorandPurkinjeCell Degeneration XinjieXu1,RajendraKedlaya2,HitoshiHiguchi1,SakaeIkeda1,MonicaJ.Justice3 ,Vijayasaradhi Setaluri2,AkihiroIkeda1* 1Department of Medical Genetics, University of Wisconsin–Madison, Madison, Wisconsin, United States of America, 2Department of Dermatology, University of Wisconsin–Madison,Madison,Wisconsin,UnitedStatesofAmerica,3DepartmentofMolecularandHumanGenetics,BaylorCollegeofMedicine,Houston,Texas,United StatesofAmerica Abstract Intracellulartrafficking iscritical for deliveringmolecules andorganellestotheirproper destinations tocarryout normal cellular functions. Disruption of intracellular trafficking has been implicated in the pathogenesis of various neurodegenerative disorders. In addition, a number of genes involved in vesicle/organelle trafficking are also essential forpigmentation,andlossofthosegenesisoftenassociatedwithmousecoat-colordilutionandhumanhypopigmentary disorders.Hence,wepostulatedthatscreeningformousemutantswithbothneurologicaldefectsandcoat-colordilution willhelpidentifyadditionalfactorsassociatedwithintracellulartraffickinginneuronalcells.Inthisstudy,wecharacterizeda mousemutantwithauniqueN-ethyl-N-nitrosourea(ENU)–inducedmutation,namednur17.nur17mutantmiceexhibitboth coat-colordilutionandataxiaduetoPurkinjecelldegenerationinthecerebellum.Bypositionalcloning,weidentifiedthat the nur17 mouse carries a T-to-C missense mutation in archain 1 (Arcn1) gene which encodes the d subunit of the coat protein I (COPI) complex required for intracellular trafficking. Consistent with this function, we found that intracellular trafficking is disrupted in nur17 melanocytes. Moreover, the nur17 mutation leads to common characteristics of neurodegenerative disorders such as abnormal protein accumulation, ER stress, and neurofibrillary tangles. Our study documentsforthefirsttimethephysiologicalconsequencesoftheimpairmentoftheARCN1functioninthewholeanimal