nf1 tumor suppressor gene：nf1肿瘤抑制基因

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1、NF1:TumorSuppressorGenePresentationbyHanaMasood1OverviewofPresentationDisease–NeurofibromatosisTypeINF1GeneProtein-NeurofibrominProteinFunction–RasGAPBiologicalRole–ActiveinRasPathwayNF1geneandNeurofibrominRoleinCancer2NeurofibromatosisTypeIAmongmostcommonneurogeneticdisorders-Itisheritable;allaf

2、fectedmembersoffamilyhavesameformofNFAffects1in3,500WhereasNF2affectsonly1in40,000Diagnosisbasedonany2ofthefollowingclinicalcriteria:-Greaterthanorequalto6café-au-laitspots-Frecklesunderarmorgroin-Greaterthanorequalto2neurofibromas,or1plexiformneurofibroma-IrisLischnodulesidentifiedbyophthalmolo

3、gist-Tumorofopticnervecalledopticpathwayglioma(inastrocytes)-Bonedeformities(i.e.aroundeye,tibia)-Firstdegreerelative(parent,sibling,orchild)http://www.understandingnf1.org/id/int_id_win.html3NeurofibromatosisTypeIAffectsperipheralnervesbrain,andspinalcordMoreactiveasgetolderInadolescence,alsofin

4、dlearningdisabilitiesinreading,math,troublefollowingdirections,andpayingattentionAllracialandethnicbackgroundsSymptomsvarypersontopersonhttp://www.understandingnf1.org/exp/int_exp_wcn.htmlEuropeanGeneticsFoundationhttp://www.charite.de/ch/medgen/eumedis/embryology04/neurocutan-disorders.html4NF1G

5、eneNF1isatumorsuppressorgeneNF1islocatedonChromosome17longarm-NF2onotherhandislocatedonChromosome22NF1geneencodestheproteinNeurofibrominhttp://www.charite.de/ch/medgen/eumedis/embryology04/neurocutan-disorders.html5NF1GeneClonedin1990Over300kbofgenomicDNA,50exonsVerylargeandcomplicated,andgenetic

6、changescanbeverysmallandsubtleAmissensemutationinGAP-RelatedDomainisonewayNF1isinactivated-usuallyamutationthatcausesachargeinversion;mostlychangefromLysinetosomethinglikeGlutamineinproteincc.oulu.fi/~anatwww/NF/Neurofibromin/Ras.jpgScheffzeketal,TheEmboJournal,1998,Vol.176NF1GeneInactivation(Lo

7、ssofFunction)50%ofcasesinheritedfromparent,other50%ofcasesstartoutasanewNF1mutationinspermoreggthatmakesthechildAllcelltypesareinitiallyNF+/-untilasubpopulationofSchwanncellsundergoLOHandbecomeNF-/-Bi-allelicinactivati