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Local lung hypoxia determines epithelial fate decisions during alveolar regeneration

Abstract

After influenza infection, lineage-negative epithelial progenitors (LNEPs) exhibit a binary response to reconstitute epithelial barriers: activating a Notch-dependent ΔNp63/cytokeratin 5 (Krt5) remodelling program or differentiating into alveolar type II cells (AEC2s). Here we show that local lung hypoxia, through hypoxia-inducible factor (HIF1α), drives Notch signalling and Krt5pos basal-like cell expansion. Single-cell transcriptional profiling of human AEC2s from fibrotic lungs revealed a hypoxic subpopulation with activated Notch, suppressed surfactant protein C (SPC), and transdifferentiation toward a Krt5pos basal-like state. Activated murine Krt5pos LNEPs and diseased human AEC2s upregulate strikingly similar core pathways underlying migration and squamous metaplasia. While robust, HIF1α-driven metaplasia is ultimately inferior to AEC2 reconstitution in restoring normal lung function. HIF1α deletion or enhanced Wnt/β-catenin activity in Sox2pos LNEPs blocks Notch and Krt5 activation, instead promoting rapid AEC2 differentiation and migration and improving the quality of alveolar repair.

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Figure 1: Epithelial HIF1α deletion blocks alveolar Krt5 activation post H1N1 infection.
Figure 2: HIF1α deletion in Sox2pos LNEPs promotes regeneration of AEC2s.
Figure 3: HIF1α drives Notch signalling in vitro and in vivo.
Figure 4: Stabilization of β-catenin promotes LNEP differentiation towards an alveolar fate.
Figure 5: Krt5pos cell expansion is a common response of human lung epithelium to major injury.
Figure 6: Single-cell RNA-Seq analysis of primary human lung epithelial cells from normal and fibrotic lungs indicates hypoxia/Notch signalling promotes AEC2s transdifferentiation towards basal-like cells after major injury.
Figure 7: Both human and mouse lung epithelial progenitor cells activate hypoxia/Notch signalling and a motile phenotype in response to major injury.

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Acknowledgements

This work was supported by NIH grants RO1 HL128484, UO1 HL111054, UO1 134766, and a sponsored research agreement with Biogen Idec (H.A.C.). A.E.V. was supported by T32 HL007185-36, F32 HL117600-01, and K99 HL131817. M.A.M. and J.E.G. were supported by NHLBI grant R37HL51856 and R37HL57156. J.X. was supported by NIH grants R01 CA112403 and R01 CA193455 and CPRIT grants RP120732-P5 and RP150197. J.M.S. was supported by NIH grant R01 HL084376. We thank M.A.M. and P. Wolters at the UCSF Interstitial Lung Disease Blood and Tissue Repository for procuring non-donor and diseased lung tissues, respectively. We also thank J.E.G. for providing influenza PR8 virus and technical assistance, B. Sennino for hypoxyprobe and technical advice, M. Zhang for CHIR99021 and technical advice, R. Lao of the Institute for Human Genetics core facility, UCSF, for assistance with RNA-sequencing, and D. A. Denison and S. Zaki of the CDC for lung tissue slides obtained from patients with H1N1 influenza.

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Authors and Affiliations

Authors

Contributions

Conceptualization: Y.X., H.A.C., A.E.V.; investigation: Y.X., T.K., A.N.B., J.X., D.-K.L., Y.W., V.T., J.R.J., J.M.S., H.A.C., J.E.G., M.A.M., A.E.V.; formal analysis: Y.X., I.H.D., A.E.V.; writing: Y.X., H.A.C., A.E.V.; supervision: H.A.C.; funding acquisition: H.A.C., A.E.V.

Corresponding author

Correspondence to Harold A. Chapman.

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The authors declare no competing financial interests.

Integrated supplementary information

Supplementary Figure 1 p63pos LNEPs are very rare and do not efficiently generate AEC2s.

Lung epithelial ablation of HIF1α with Shh-Cre causes no defects in uninjured mice. (a) While p63pos LNEPs generate Krt5 metaplasia, they make only a minor contribution to AEC2 regeneration after influenza injury (insets). (b) Rare p63-CreERT2 traced (tdTomato +) cells are scattered throughout airways in uninjured mice, representing 0.005% of the total epithelium as judged by FACS analysis (c). Data represent n = 3 mice for histology (b), n = 2 independent experiments with pooled live cells from 3 mice for FACS (c). (d) HIF1α is deleted in all the epithelial cells sorted from Shh-Cre; HIF1αfl/fl mouse lungs. Data are mean ± s.e.m. from n = 3 independent experiments, in which each group is a pool of 3 mice. (e) Lung SatPC content and (f) LNEP-enriched population (integrin β4pos EpCAMpos) remain unchanged after HIF1α deletion in epithelial cells. (e) Data are represented as mean ± s.e.m. from n = 4 mice per group from two independent experiments. (f) Data are represented as a percentage in EpCAMpos live cells from a pool of 3 mice in each group. P values derived by unpaired two-tailed Student’s t test.

Supplementary Figure 2 HIF1α-/- mice are injured at similar levels as wild-type mice, but lack alveolar Krt5pos cell expansion.

(a) Representative blot showing Krt5 induction is inhibited by epithelial HIF1α deletion. (bc) No large expansion of ΔNp63 (b) or integrin β4 (c) positive cells in the alveoli of HIF1α−/− mice, indicating alveolar Krt5pos cell expansion is inhibited by HIF1α deletion. No difference in virus infection (d), weight loss (e), immune cell numbers in BAL (f) and BALF protein level (g) between wild-type and HIF1α−/− mice. (eg) Data are represented as mean ± s.e.m., (e) n = 7 wild-type, n = 6 HIF1α−/−; (f) n = 11 wild-type, n = 13 HIF1α−/−; (g) n = 17 wild-type, n = 18 HIF1α−/− mice from three independent experiments. Each data point represents one mouse. (h) Large areas of AEC2 depletion are present in both wild-type and HIF1α−/− lungs, quantified in i. SPC staining in airways (h, right) is an artefact of the goat anti-pro-SPC antibody. (i) Data are represented as mean ± s.e.m., n = 4 wild-type, n = 3 HIF1α−/− mice from 2 independent experiments. (j) HIF1α−/− mice recover weight more rapidly than their wild-type counterparts after influenza injury. Data are represented as mean ± s.e.m., n = 10 wild-type, n = 10 HIF1α−/−, n = 8 uninfected wild-type mice from three independent experiments. (k) Significant difference in average arterial oxygen saturation at 13 days post-infection between HIF1α−/− and wild-type mice. Each data point represents the average% O2 saturation reading for a single mouse at this time point (see Fig. 1h). Data are mean ± s.e.m., n = 7 HIF1α−/−n = 14 wild-type (2 Shh-Creneg, 12 C57BL6) mice from two independent experiments. Analysis is 11 days post-infection unless otherwise indicated. P values derived by unpaired two-tailed Student’s t test, except in k derived by Mann Whitney.

Supplementary Figure 3 HIF1α promotes Notch activity in LNEPs but has no effect on airway Notch activity.

(ab) Reduced colony size and number of HIF1α−/− LNEPs in culture. WT, HIF1αfl/fl. (c) qPCR analysis of SPC in freshly sorted (P0) and cultured (P1–P3) LNEPs showing SPC mRNA dramatically decreases upon culture, n = 2 independent experiments. (d) Top, mouse Krt5, Hey1 and Hes5 promoters contain HRE and CBE. The primers used in bottom are highlighted in red. Bottom, qPCR analysis of ChIP demonstrating HIF1α deletion blocks NICD1 DNA binding on Krt5, Hey1 and Hes5 promoters in cultured LNEPs. Ct value of pulled down DNA was normalized by Ct of input DNA and the abundance was calculated relative to NICD1 association of each site. (b,d) Data are represented as mean ± s.e.m. from n = 3 independent experiments. P values derived by unpaired two-tailed Student’s t test. (e) FACS isolation of highly purified LNEPS (FoxJ1neg CC10neg integrinβ4 +) from uninjured mice used for RNA-Seq analysis. (f) HIF1α deletion inhibits Hes1 staining in the alveoli but not airways. (g) HIF1α deletion has no effect on airway Notch activity in uninfected mice, as judged by the ratio between club cells (CC10pos) and multi-ciliated cells (acetylated-Tubulinpos) remaining unchanged.

Supplementary Figure 4 Stabilization of β-catenin inhibits Notch and HIF1α activity by blocking their DNA association.

(a) β-catenin stabilization increases ectopic SPC expression in the airways largely independent of club cells expressing Scgb3a2. About 27% (97 cells out of 362) Sox2-traced airway cells express SPC 7 days after tamoxifen induced β-catenin stabilization, n = 3 mice examined. (b) qPCR analysis of ChIP demonstrating NICD1 and HIF1α DNA binding on Krt5, Hey1 and Hes5 promoters are blocked by CHIR. The same control sample (LNEPs from HIF1αfl/fl mice) was used as Supplementary Fig. 3d. Data are represented as mean ± s.e.m. from n = 3 independent experiments. P values derived by unpaired two-tailed Student’s t test. (c) Individual fluorescent channels of the colony from Fig. 3g demonstrating Krt5 and SPC expression in a single clone. (d) p63neg LNEPs in vitro either remain undifferentiated, are activated into p63pos cells (visualized by tdTomato expression after a brief 4OHT treatment), or differentiate into Krt5+ or SPC + cells. Wnt agonism (blue) results in more SPC + cells and fewer Krt5 + cells as described in Fig. 4d. Grey inset quantifies these outcomes specifically within those cells that become p63 traced. Quantification is via immunostaining of cytospins, n = 2 experiments.

Supplementary Figure 5 Deleting HIF1α or stabilizing β-catenin does not alter LNEP differentiation after full Notch/Krt5 activation.

(a) HIF1α deletion or β-catenin stabilization subsequent to Krt5 activation as described in b has no effect on Krt5 (green, upper panel) and SPC (green, lower panel) expression. (c) Relative mRNA levels in sorted Krt5-CreERT2-traced cells 21 days post infection with (n = 8) or without (n = 2) HIF1α deletion. Notch activity is not downregulated by HIF1α deletion in Krt5 expressing cells. (d) Relative mRNA levels in sorted Krt5 traced cells 21 days post infection with (n = 2) or without (n = 5) β-catenin stabilization. Notch activity is not inhibited by Wnt signaling in Krt5 expressing cells. (cd) Sorted cells from two independent experiments were pooled together for RNA isolation.

Supplementary Figure 6 Flow plots and cytospin of human lung epithelial cell sort.

(a) As judged by cytospin, the HTII-280pos population captures all the SPCpos AEC2s, and the HTII-280negα6pos population is enriched for basal cells in normal human lungs. (b) In scleroderma lung, the percentage of HTII-280pos cells as a function of total EpCAMpos cells decreases and both Krt5pos and Krt5/SPC double positive cells are observed in HTII-280pos cells.

Supplementary Figure 7 Transdifferentiation of human AEC2s to basal-like cells and single cell RNA-Seq analysis of primary human lung epithelial cells show distinct hypoxia signature in fibrotic lungs.

(a) Whole-genome wide PCA analysis of HTII-280pos cells from normal, DK, Scleroderma and IPF lungs, showing AEC2s from fibrotic lungs are distinct from that of normal lungs. (b) Hierarchical clustering of single cell transcriptomes of HTII-280pos cells isolated from normal, DK, scleroderma and IPF lungs. Listed genes (rows) are hypoxia signature (listed in Fig. 5c) plus STFPA1, STFPA2, SFTPC, KRT5, HES1 (highlighted with red rectangles). Four distinct groups (I–IV) are highlighted. Cells from IPF lungs are mostly in Group IV. (c) PCA analysis of all human cells using the entire genome except for the signature genes from Fig. 6a, demonstrating that the hypoxia & lineage gene set is predictive of meaningful differences in cell identity at the whole-transcriptome level. (d) Primary human AEC2s (HTII-280pos) upregulated Krt5 mRNA after one passage in culture by qPCR analysis. Notch inhibition (DBZ) during this initial culture attenuated Krt5 upregulation (right). Data are represented as mean ± s.e.m., where each point represents one independent cell isolation and experiment (n = 4 left, n = 3 right).P values derived by unpaired two-tailed Student’s t test (d, left) or one-sample t-test (d, right). (e) Average FPKM values of human cells (Group I, IV and V), and mouse quiescent and activated LNEPs from RNA-seq are indicated in the heatmap (right) for the shared upregulated 102 gene set (see Fig. 7).

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Xi, Y., Kim, T., Brumwell, A. et al. Local lung hypoxia determines epithelial fate decisions during alveolar regeneration. Nat Cell Biol 19, 904–914 (2017). https://doi.org/10.1038/ncb3580

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