Abstract:
:Heterozygous mutations in the CD95 (APO-1/Fas) receptor occur in most individuals with autoimmune lymphoproliferative syndrome (ALPS) and dominantly interfere with apoptosis by an unknown mechanism. We show that local or global alterations in the structure of the cytoplasmic death domain from nine independent ALPS CD95 death-domain mutations result in a failure to bind the FADD/MORT1 signaling protein. Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly decreased FADD association and a loss of caspase recruitment and activation after CD95 crosslinking. These data suggest that intracytoplasmic CD95 mutations in ALPS impair apoptosis chiefly by disrupting death-domain interactions with the signaling protein FADD/MORT1.
journal_name
Proc Natl Acad Sci U S Aauthors
Martin DA,Zheng L,Siegel RM,Huang B,Fisher GH,Wang J,Jackson CE,Puck JM,Dale J,Straus SE,Peter ME,Krammer PH,Fesik S,Lenardo MJdoi
10.1073/pnas.96.8.4552keywords:
subject
Has Abstractpub_date
1999-04-13 00:00:00pages
4552-7issue
8eissn
0027-8424issn
1091-6490journal_volume
96pub_type
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