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. 2019 Nov 20;8:e48476. doi: 10.7554/eLife.48476

Figure 8. Associations between HLA-type eQTLs, RNF5 expression and Cystic Fibrosis.

(A–F) Distributions of RNF5 expression levels in samples that are homozygous (red) and heterozygous (yellow) for significant HLA-type eQTLs corresponding to 8.1AH HLA alleles. RNF5 expression distributions for all samples that do not carry the indicated 8.1AH HLA alleles are shown in grey. RNF5 expression distributions for all significant HLA-type eQTLs that are not part of the 8.1AH are shown in Figure 8—figure supplement 1. (G) Cartoon depicting proposed model of the molecular mechanisms underlying the associations between 8.1AH, RNF5 expression and CFTR function in CF. On the left, in healthy individuals, CFTR is correctly folded in the airway epithelium and Cl- ions can be secreted. On the right, in CF patients not carrying 8.1AH, CFTR is misfolded and high levels of RNF5 result in its degradation which, in turn, results in decreased Cl- secretion, mucus hypersecretion and colonization by S. aureus and P. aeruginosa. In the middle, in CF patients carrying 8.1AH, RNF5 is expressed at low levels, resulting in the lower levels of RNF5, less degradation of the misfolded mutated CFTR protein, improved Cl- secretion, lower mucus secretion and delayed colonization by S. aureus and P. aeruginosa.

Figure 8.

Figure 8—figure supplement 1. Association of RNF5 expression levels with HLA-type eQTLs.

Figure 8—figure supplement 1.

Distributions of RNF5 expression levels in samples that are homozygous (red) and heterozygous (yellow) for significant HLA-type eQTLs not present in the 8.1 ancestral haplotype (Figure 8). RNF5 expression distributions for all samples that do not carry the indicated HLA alleles are shown in gray.