Consequences of HLA-B*13-associated escape mutations on HIV-1 replication and Nef protein function

Background: HLA-B*13, a protective HLA class I allele, selects CTL escape mutations across HIV-1, but their effects on viral replication and protein function remain incompletely understood. We assessed the impact of 10 published HLA-B*13 escape mutations in Gag, Pol and Nef on viral replication. We also assessed the impact of Nef mutations on cell-surface CD4 and HLA class I downregulation, and the latter''s consequence for recognition of virus-infected cells by epitope-specific T-cells.
Methods: HLA-B*13 escape mutations in Gag (A146S, I147L, K436R, I437L), Pol (Protease-L63S; RT-Q334N, T369A, K374R) and Nef (E24Q, Q107R) were engineered alone and in biologically relevant combinations (defined via analysis of longitudinal HIV-1 RNA sequences from 9 B*13+ seroconverters and cross-sectional sequences from 69 B*13+ chronic patients) into an HIV-1NL4-3 backbone. Viral replication was determined using a GFP-reporter T-cell assay. Nef-mediated CD4 and HLA-A*02 downregulation was assessed by flow cytometry. Recognition of infected target cells by HIV-1-specific effector cells was assessed via co-culture with an NFAT-driven luciferase reporter T-cell line specific for the A*02-restricted Gag-FK10 peptide.
Results: Of all mutations tested, only Gag I437L incurred a 14% replicative reduction, alone and in combination with A146S and/or I147L. This defect was rescued to wild-type (HIV-1NL4-3) levels by K436R. A novel B*13 epitope was identified in p24Gag (GQMVHQAI140-147). Single Nef mutations did not affect CD4 or HLA-A*02 downregulation; however, the Nef double mutant was nearly 70% impaired for the latter function (for context, the canonical Nef M20ANL4-3 mutant defective for HLA downregulation was >90% functionally impaired). Correspondingly, luciferase signal emitted by HIV-1-specific effector cells upon co-culture with HIV-1E24Q/Q107R-infected target cells was 2-fold higher than for cells infected with NL4-3 or single Nef mutants.
Conclusions: A minority of HLA-B*13-driven escape mutations modestly dampen HIV-1 replication or Nef function, which could contribute in part to B*13-associated protection from disease progression. The observation that a naturally-occurring (albeit rare; 4%) Nef double mutation impairs HLA downregulation and enhances recognition of infected cells by HIV-1-specific T-cells suggests a novel escape-associated defect that ironically dampens a key viral immune evasion strategy. Improved understanding of the mechanisms underlying HLA-associated protective effects may have implications for HIV-1 vaccine design.

A. Shahid1, X.T. Kuang2, G. Anmole2, A. Olvera3, L. Cotton1, C. Brander3,4, M.A. Brockman1,2,5, Z.L. Brumme1,5
1Simon Fraser University, Faculty of Health Sciences, Burnaby, Canada, 2Simon Fraser University, Department of Molecular Biology and Biochemistry, Burnaby, Canada, 3Irsicaixa AIDS Research Institute, Barcelona, Spain, 4ICREA, Barcelona, Spain, 5BC Centre for Excellence in HIV/AIDS, Vancouver, Canada