ABCMdb

PMID: 24675550

Forni D, Cagliani R, Tresoldi C, Pozzoli U, De Gioia L, Filippi G, Riva S, Menozzi G, Colleoni M, Biasin M, Lo Caputo S, Mazzotta F, Comi GP, Bresolin N, Clerici M, Sironi M
An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection.
PLoS Genet. 2014 Mar 27;10(3):e1004189. doi: 10.1371/journal.pgen.1004189. eCollection 2014 Mar., [PubMed]

Sentences

No. Mutations Sentence Comment

288 ABCB3 p.Leu272Pro Hap II carries the derived allele of rs3788524, which is an outlier in the YRI/AS FST distribution (Supplementary Figure S6); in AS and CEU this variant is in strong LD with L272P (rs2075939), which also defines HapII. Login to comment 293 ABCB2 p.Gln788Lys ABCB2 p.Val518Leu ABCB2 p.Gly77Arg Two distantly related haplotypes are observed in YRI (YRI-hapI and YRI-hapII, Figure 7C) and both carry at least one distinctive nonsynonymous variant (V518L and G77R plus Q788K, respectively). Login to comment 398 ABCB2 p.Val518Leu Interestingly, one of the putative balancing selection targets in TAP1, the V518L variant, is located in the peptide binding domain, close to a positively selected site (516Q), and defines a minor haplotype in YRI; this variant might affect the affinity of TAP1 for one or more antigenic peptides. Login to comment 407 ABCB3 p.Leu272Pro One nonsynonymous polymorphism (L272P) in NCF4, encoding a cytosolic regulatory component of the NADPH oxidase complex, was also identified as a possible balancing selection target in human populations. Login to comment