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Combining theoretical analysis and experimental datageneration reveals IRF9 as a crucial factor for accelerating interferon a-induced early antiviral signalling Tim Maiwald1,*, Annette S

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Combining theoretical analysis and experimental data

generation reveals IRF9 as a crucial factor for accelerating interferon a-induced early antiviral signalling

Tim Maiwald1,*, Annette Schneider2,*, Hauke Busch3, Sven Sahle1, Norbert Gretz4,

Thomas S Weiss5, Ursula Kummer1and Ursula Klingmu¨ller2

1 Heidelberg University, Department Modeling of Biological Processes, BIOQUANT ⁄ Institute of Zoology, Germany

2 German Cancer Research Center, Division Systems Biology of Signal Transduction ⁄ BIOQUANT, DKFZ-ZMBH Alliance, Heidelberg, Germany

3 Freiburg Institute for Advanced Studies (FRIAS), Albertstraße 19 and Center for Biosystems Analysis (ZBSA), University of Freiburg, Germany

4 Heidelberg University, Medical Faculty Mannheim, Germany

5 University Medical Center Regensburg, Center for Liver Cell Research, Germany

Introduction

Invading pathogens such as viruses elicit complex

responses in host cells, and the outcome of an infection

is critically determined by the dynamics of host defence mechanisms Important mediators of antiviral

Keywords

antiviral signalling; interferon a; IRF9; kinetic

model; signal transduction

Correspondence

U Klingmu¨ller, Division Systems Biology of

Signal Transduction, German Cancer

Research Center, Im Neuenheimer Feld

280, Heidelberg 69120, Germany

Fax: +49 6221 42 4488

Tel: +49 6221 42 4481

E-mail: u.klingmueller@dkfz.de

Database

The mathematical model described here has

been submitted to the Online Cellular

Systems Modelling Database and can be

accessed at http://jjj.biochem.sun.ac.za/

database/maiwald/index.html free of charge

*These authors contributed equally to this

work

(Received 19 June 2010, revised 20 August

2010, accepted 13 September 2010)

doi:10.1111/j.1742-4658.2010.07880.x

Type I interferons (IFN) are important components of the innate antiviral response A key signalling pathway activated by IFNa is the Janus kinase⁄ signal transducer and activator of transcription (JAK⁄ STAT) pathway Major components of the pathway have been identified However, critical kinetic properties that facilitate accelerated initiation of intracellular antiviral signalling and thereby promote virus elimination remain to be determined By combining mathematical modelling with experimental analysis, we show that control of dynamic behaviour is not distributed among several pathway components but can be primarily attributed to interferon regulatory factor 9 (IRF9), constituting a positive feedback loop Model simulations revealed that increasing the initial IRF9 concentration reduced the time to peak, increased the amplitude and enhanced termina-tion of pathway activatermina-tion These model predictermina-tions were experimentally verified by IRF9 over-expression studies Furthermore, acceleration of signal processing was linked to more rapid and enhanced expression of IFNa target genes Thus, the amount of cellular IRF9 is a crucial determinant for amplification of early dynamics of IFNa-mediated signal transduction

Abbreviations

C ⁄ EBP-b, CCAAT-enhancer-binding protein b; IFN, interferon; IRF9, interferon regulatory factor 9; ISGF3, interferon-stimulated gene factor 3; ISG, interferon-stimulated gene; JAK, Janus kinase; PIAS, protein inhibitor of activated STATs; PKR, protein kinase R; SOCS, suppressor

of cytokine signalling; STAT, signal transducer and activator of transcription; SHP-2, SH2-containing phosphatases; TYK2, tyrosine kinase 2; TFBS, transcription factor binding sites; USP18, ubiquitin specific peptidase 18.

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responses are type I interferons (IFN), which are used

in the treatment of hepatitis B and C virus infections

However, success of the treatment is highly

patient-dependent [1] As a rapid IFN response may be

deci-sive for a viral infection [2], it is important to identify

factors that regulate IFN signalling kinetics and that

may be a reason for patient-to-patient variations

In general, several potential mechanisms are possible

to expedite signal transduction As shown for the

epidermal growth factor receptor system, increasing

ligand concentrations result in earlier maximal pathway

activation and an increase in signal amplitude [3,4]

Furthermore, alterations in the activity of a kinase or

phosphatase may affect the speed of signalling pathway

activation However, theoretical studies by Heinrich

et al.[5] indicated that kinase activity primarily regulates

signal amplitude rather than signalling time, whereas

phosphatases enhance the signalling time, but lead to a

decrease in signal amplitude Currently, very little is

known regarding specific mechanisms that could be

exploited to accelerate IFN signalling

A key signalling pathway activated by type I IFN is

the JAK⁄ STAT pathway The Janus kinases JAK1

and tyrosine kinase 2 (TYK2) are activated in response

to ligand binding to the receptor, and these kinases

phosphorylate signal transducers and activators of

transcription STAT1 and STAT2 In contrast to other

JAK⁄ STAT signalling pathways, type I IFN signalling

additionally involves interferon regulatory factor 9

(IRF9⁄ p48), which, together with phosphorylated

STAT1⁄ STAT2 dimers, forms the

interferon-stimu-lated gene factor 3 (ISGF3) complex ISGF3 is

translo-cated to the nucleus and activates transcription of

interferon-stimulated genes [6] Amongst others, this

leads to induction of suppressor of cytokine signalling

(SOCS) proteins that modulate termination of pathway

activation Furthermore, the expression of IRF9 is

induced, constituting a positive feedback loop IRF9

plays an important role in IFNa signalling [7]

Increas-ing the amount of IRF9 by over-expression or

pre-stimulation of cells with IFNc or interleukin-6 results

in higher levels of transcription of IFN-stimulated

genes [8–11] and an augmented antiviral response [11–

13] However, the specific impact of IRF9 on the

dynamics of pathway activation, such as signalling

speed and extent, remains to be identified

To unravel the highly non-linear relations

determin-ing the timdetermin-ing and extent of signalldetermin-ing pathway

activa-tion, establishment of a dynamic pathway model is

required Previous modelling approaches analysing the

JAK⁄ STAT pathway focussed on the impact of

phos-phatases and induced negative inhibitors [14–16] that

primarily influence pathway termination Here, we

have developed a mathematical model of IFNa signal transduction, including the known key players and feedback mechanisms, to identify systems properties that facilitate accelerated IFNa signalling Using this approach, IRF9 was predicted to not only increase the amount of active ISGF3, but also to accelerate signal transduction into the nucleus, as verified experimen-tally by IRF9 over-expression studies Moreover, the accelerated signal processing also resulted in faster and increased expression of target genes Thus, we identified IRF9 as a pivotal player for the speed and efficiency

of IFNa signal transduction

Results

A data-based mathematical model of IFNa signalling with predictive power

To investigate the dynamic properties of IFNa-medi-ated JAK⁄ STAT activation, we developed a mathemat-ical model comprising the known key components, feedback responses and constitutive regulatory mecha-nisms (Fig 1A, Table S1 and Appendix S1) Specifi-cally, we included constitutive negative regulations by general phosphatases and protein inhibitor of activated STATs (PIAS), as well as constitutive degradation of receptors, IRF9 and mRNA Receptor dephosphoryla-tion by SH2-containing phosphatase 2 (SHP-2) was represented by a constant kinetic parameter indepen-dent of SHP-2 concentration, as changes in SHP-2 concentration were assumed to be negligible during the measured timescale Furthermore, the negative feed-back loop of ISGF3-mediated SOCS induction was incorporated IRF9 synthesis was included as a positive feedback mechanism as IFN-dependent expression of IRF9 was experimentally observed within the relevant timescale (Fig 1B) Further features of the model were based on literature evidence: (i) IRF9 is constitutively bound to unphosphorylated STAT2 in the unstimu-lated system [17], (ii) unphosphoryunstimu-lated STAT1 and STAT2 shuttle constantly between the cytoplasm and nucleus, and nuclear import of STAT2 is increased by IRF9 binding [18], (iii) free IRF9 is mainly localized to the nucleus [19], and (iv) phosphorylated STAT1⁄ STAT2 heterodimers require IRF9 to bind IFN-stimu-lated response elements [20] IRF9 independent DNA-binding of STAT heterodimers was not considered, as these complexes bind to different DNA elements, the

c activation sites that are involved in IFNc signalling Thus, in the model, no gene expression occurs in the absence of IRF9 (Table S1 and Appendix S1)

For model calibration, kinetic parameters were taken from the literature (Table S2) or trained against

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B

Fig 1 Kinetic model of the IFNa signalling pathway (A) Simplified view of the model architecture is shown, with the activation of STAT proteins summarized as one reaction and omitting receptor endocytosis, constitutive IRF9 degradation and nuclear translocation of phosphor-ylated STAT1 ⁄ STAT2 heterodimers For details, see Table S1 Circle-headed lines, reaction catalysis; lines with perpendicular bars, reaction inhibition; single-dotted arrows, transcription mRNA to IRF9 ⁄ SOCS; TFBS, transcription factor binding site The scheme was generated using CellDesigner [53] (B) Dynamic behaviour of IFNa signalling Activation of cytoplasmic pJAK1, pSTAT1 and nuclear IRF9 measured by quanti-tative immunoblotting after stimulating Huh7.5 cells with 500 UÆmL)1IFNa To facilitate direct comparison, the same scale was used on the

y axis for the experimental data as used for the model simulation Minor levels of basal phosphorylation could not be eliminated by starva-tion for 3 h For phosphorylated JAK1, the background signal (defined as the signal for the immunoblot in areas other than the protein bands) was subtracted to better distinguish background noise from the actual signal The background level in the data for phosphorylated STAT pro-teins was low, so background corrections did not alter the results A representative plot is shown in each case, and the experiment was repeated at least three times (see Fig S3A for additional data) The error bars represent a technical relative error of 18%, derived from multi-ple measurements (Fig S1) Filled circles, experimental data; dashed lines, smoothing splines; a.u., arbitrary units The model simulation (line) for pJAK1, pSTAT1 and IRF9 was performed using COPASI [23] The simulations are within the range of data reproducibility.

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experimental data (Fig 1B), with all kinetic

parame-ters being estimated within a physiologically

meaning-ful range Model simulations start in the steady state,

without any IFNa-dependent phosphorylation of

signalling components The minor amounts of basal

phosphorylation of STAT1 shown in the data

(Fig 1B) were not considered for calibration This

phosphorylation was not affected by 3 h starvation, a

time period that is sufficient for decay of IFNa

sig-nalling in Huh7.5 cells, and therefore appeared to be

independent of a major IFNa stimulus The initial

concentrations of STAT1, STAT2, JAK1, TYK2 and

IRF9 were experimentally determined (Fig S2 and

Table S3) Experiments were performed in Huh7.5

human hepatocarcinoma cells, which show dynamic

behaviour comparable to that of primary human

hepatocytes (Fig S3A,C) Previous studies suggested

that approximately 30% of the total amount of

STAT molecules is phosphorylated after IFNa

stimu-lation [21] Finally, the major signalling peak was

assumed to occur between 20 and 60 min after

IFNa stimulation The inclusion of various feedback

mechanisms is necessary for analysis of their specific

impact, but leads to an underdetermined system due

to the number of unknown kinetic parameters

How-ever, the established model is consistent with the

experimental data (Fig 1B), and permits qualitative

predictions

Identification of IRF9 as an accelerator of IFNa signalling

To systematically identify components that control the timing and extent of IFNa signalling, a sensitivity analysis was performed with initial protein concentra-tions as input (Fig 2A) As output, both the peak time and the integrated response of the DNA-bound pSTAT1–pSTAT2–IRF9 (ISGF3) complex were analy-sed These system quantities that represent the speed and the extent of signal transduction were selected as they are likely to be crucial for an efficient antiviral response

In contrast to other systems, for which control is widely distributed [22], only a few molecules controlled the systems behaviour of IFNa signalling Among the identified proteins, nuclear phosphatases had a pro-nounced effect, positively influencing the peak time, but greatly decreasing the integrated response, in line with previous theoretical studies [5] A higher ligand dose resulted in increased signal amplitude, but had only a minor effect on signal duration, as confirmed experimentally (Fig S3B) Of the signal transducers, STAT1 and IRF9 exerted the greatest control STAT1 had a positive effect on the integrated response, but negatively influenced the peak time IRF9 was the only factor that had a substantial positive effect on the peak time and also increased the integrated response

A

B

Fig 2 Sensitivity analysis for peak time and integrated responses Initial concentrations of all players were varied to calculate their control coefficient on the kinetic behaviour of the system (A) Sensitivity analysis using the original parameter set (B) Global sensitivity analysis using 998 parameter sets.

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To confirm that the results derived by the sensitivity

analysis were not restricted to the original parameter

set, the same approach was repeated using diverse

parameter sets For this purpose, a random search

implemented in the optimization task of the simulation

software copasi [23] was used to vary all model

parameters between ±50% of their original value As

fitting constraints, the resulting kinetic behaviours had

to reproduce the experimental data (Fig 1B) Using

this process, 998 parameter sets matching the given

criteria were obtained Further analysis of these data

sets showed that the kinetic parameters could vary

quite substantially and still reproduce the experimental

data Therefore, it is important to not only examine

parameter sensitivities at a single point in parameter

space, but also to use a more global approach The

obtained parameter sets were used for a global

sensi-tivity analysis As shown in Fig 2B, the most sensitive

component in both analyses was IRF9, supporting

its central role The influence of IFNa on the time

of the signalling peak differed: in contrast to the

previous analysis, increasing IFN concentrations led to

a delayed peak for most parameter sets (Fig 2B)

However, in the experimental data the peak time for

different interferon doses was comparable (Fig S3B),

and thus it was reasonable to retain the original

parameter set for further analysis In conclusion, major

sensitivities were conserved throughout the parameter

space, confirming that IRF9 has an important impact

on the kinetic behaviour of the system, independent of

specific parameter sets

We performed additional model simulations to

quali-tatively examine the impact of large variations in IRF9

expression levels on the dynamic behaviour of IFNa

signalling, as sensitivity analyses describe only small

changes at single points within the parameter space

Indeed, a major increase in IRF9 levels accelerated

signal transduction from the cytoplasm to the nucleus,

resulting in a greater amount of active ISGF3 in the

nucleus at earlier time points (Fig 3A) Furthermore,

our model predicted a steeper signalling decline after

the peak for cells with elevated IRF9 levels To

deter-mine whether this effect is the result of up-regulated

transcription of negative inhibitors (SOCS proteins),

we removed SOCS1 induction in silico Without this

negative feedback, signal termination was attenuated

in the IRF9 over-expressing cells, and de novo IRF9

synthesis in wild-type cells accounted for enhanced

signalling during the analysed timescale (Fig S4A)

To experimentally validate the model predictions,

IRF9 was stably over-expressed in Huh7.5 cells by

lentiviral transduction (Fig S5) The phosphorylation

kinetics of nuclear STAT1 and STAT2 in response to

stimulation with 500 UÆmL)1 IFNa were determined

by quantitative immunoblotting (Fig 3B) In line with the model analysis, cells over-expressing IRF9 showed

a higher and earlier activation peak in the nucleus as well as a steeper peak decline compared to wild-type cells To determine whether different IRF9 induction rates have similar effects, we varied the parameter for IRF9 synthesis in silico More rapid IRF9 synthesis resulted in enhanced IFNa signalling, and eliminating the positive feedback dampened the response (Fig S4B) Complete absence of IRF9 was predicted

to lead to a reduction in the amounts of phosphory-lated STAT proteins (Fig S4C)

In principle, the effects of IRF9 could be achieved

by two mechanisms IRF9 could decelerate dephos-phorylation of activated STAT1⁄ 2, as phosphorylated STAT1⁄ 2 complexes can only bind specifically to DNA in combination with IRF9, and DNA-bound STAT proteins are protected from nuclear phosphatase activity [24] This mechanism was implemented in the model As a potential alternative mechanism, nuclear import of phosphorylated STAT1⁄ 2 could be increased upon interaction with IRF9 This is based on the observation that IRF9 possesses a strong constitutive nuclear localization signal recognized by a variety of importins, whereas the nuclear localization signal of phosphorylated STAT1⁄ 2 heterodimers is only recog-nized by importin a-5 [25] Therefore, complexes harbouring both types of nuclear localization signal would have an increased chance of interacting with a matching importin, resulting in enhanced nuclear translocation kinetics

We performed model simulations to assess the impact of both effects In silico analysis indicated that increasing IRF9-dependent nuclear import kinetics while neglecting IRF9-mediated phosphatase protec-tion could not represent the experimental data However, a model describing the observed dynamics solely on the basis of IRF9-dependent phosphatase protection of DNA-bound ISGF3 was necessary and sufficient to reproduce the observed kinetic data (Fig 3C)

Hence, our analysis identified IRF9 as crucial for both rapid and efficient IFNa-mediated signal trans-duction, and suggests an increased probability of DNA-binding of ISGF3 as the underlying mechanism

Over-expression of IRF9 accelerates and increases IFNa-stimulated gene expression

To test whether the accelerated and enhanced nuclear presence of phosphorylated STAT1⁄ 2 proteins upon IRF9 over-expression resulted in altered gene activation

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kinetics, we analysed the expression of IFNa-stimulated

genes by quantitative real-time PCR RNA levels of

the antiviral genes protein kinase R (PKR) [26] and

interferon stimulated gene 56 (ISG56) [27], as well as the

genes encoding negative inhibitors SOCS1 [28] and

ubi-quitin specific peptidase (USP18), were determined at

various time points for up to 24 h USP18 is a protease

that cleaves the IFN-induced, ubiquitin-like modifier

ISG15 from its target proteins [29], and was also

reported recently to block phosphorylation of JAK1

[30]

The examined genes were strongly induced by IFNa (Fig 4A) Interestingly, each gene analysed displayed different expression kinetics SOCS1 exhibited very fast induction followed by rapid repression USP18, on the other hand, displayed increased expression for up to

24 h Similar to USP18, the antiviral genes ISG56 and PKR showed prolonged up-regulation Interestingly, for all genes investigated, induction of gene expression was faster when IRF9 levels were elevated, consistent with the general mRNA induction predicted by the model (Fig S4D) For ISG56, SOCS1 and USP18, a

C

Fig 3 IRF9 controls the dynamics of IFNa signalling (A) Model prediction of IFNa-dependent pSTAT1 ⁄ pSTAT2 accumulation in the nucleus, which is equivalent to the kinetics of ISGF3 (pSTAT1-pSTAT2-IRF9) Simulations (lines) were performed for wild-type cells (wt) and for cells with 32-fold IRF9 over-expression (IRF9oe) (B) Experimental validation of the model prediction Wild-type Huh7.5 cells (wt) or Huh7.5 cells stably over-expressing IRF9 32-fold (IRF9oe) were stimulated with 500 UÆmL)1IFNa, and phosphorylation of nuclear STAT proteins was mea-sured by quantitative immunoblotting (see Fig S5) To facilitate direct comparison, the same scale was used on the y axis for the experi-mental data as used for the model simulation Over-expression of a control protein (GFP) had no effect on the dynamic behaviour (Fig S6) The error bars represent a technical relative error of 18%, derived from multiple measurements (Fig S1) Filled circles, experimental data; dashed lines, smoothing splines; a.u., arbitrary units (C) In silico analysis of two potential mechanisms underlying the effect of IRF9 Simula-tion of DNA-bound ISGF3 and pSTAT1–pSTAT2 heterodimers in the nucleus, representing situaSimula-tions where IRF9 leads to increased nuclear import of pSTAT1–pSTAT2 or provides protection from phosphatase degradation.

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high IRF9 level resulted in an increased peak

ampli-tude, but the peak amplitude was unaltered for PKR

The integrated response was larger for each of the four

genes when IRF9 was overexpressed, with a more

pro-nounced difference during the first 4 h (Fig 4A)

To confirm that the observed effect was not restricted to the tested genes, we investigated the glo-bal induction of IFNa-stimulated genes using a time-resolved microarray (Fig 4B,C) For data analysis, we selected genes that showed an increased relative

α α

α α

A

–2

–2

Fig 4 IRF9 controls the dynamics of IFNa-induced gene expression Huh7.5 wild-type cells stably transduced with an empty vector (wt) or IRF9-over-expressing cells (IRF9oe) were stimulated with 500 UÆmL)1IFNa, and RNA was extracted at the indicated time points (A) Quanti-tative real-time PCR analysis of four sample genes For each gene, the integrated response was calculated for early (4 h) and late (24 h) time points (B,C) Time-resolved microarray analysis performed with one replicate per time point (B) Kinetics of representative genes in Huh7.5 wild-type cells stably transduced with an empty vector (wt) or in IRF9-over-expressing cells (IRF9oe) (C) Scatter plot showing the difference

in gene induction time and mean fold expression in control or IRF9-over-expressing cells Positive values indicate accelerated and augmented gene expression in IRF9oe cells The genes indicated show an increased relative expression upon IFNa stimulation in either wild-type or IRF9-over-expressing cells and have a difference in gene induction time of less than 6 h (257 genes) SOCS1 and IRF9 are also included There is a clear trend for faster and augmented gene expression in the IRF9-over-expressing cells, as demonstrated by the positive slope of

a linear model y = b + m*x, which was fitted to the data points The variables x and y indicate the time difference of activation and the mean differential expression, respectively The slope (m = 0.08; P value = 0.00006, t test) and intercept (b = 0.25; P value < 2e-16, t test) were estimated using the lm() function in R, version 2.11.1 (http://www.R-project.org).

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expression in both wild-type and IRF9-over-expressing

cells upon stimulation with IFNa A gene ontology

analysis using DAVID [31] showed that these 284

genes are related to immune and virus response as well

as antigen processing and presentation, as expected

(Table S4) Gene expression time series were

character-ized with respect to the differences in mean fold

expression and temporal regulation (see Experimental

procedures) There was an overall positive correlation

between the level of gene expression and the expression

kinetics: genes that were more strongly up-regulated in

the IRF9-over-expressing cells were also induced

ear-lier Remarkably, this was true for the majority of the

genes in the IRF9-over-expressing cells compared to

wild-type cells (160 out of 257) One exception was

IRF9 itself, as it could not be induced much beyond

the already high expression level in over-expressing

cells Taken together, these data demonstrate that an

elevated amount of IRF9 not only results in higher

levels of transcription, but also in accelerated

expres-sion of IFNa target genes

Discussion

Here we describe the development of a comprehensive

model of IFNa signalling and its experimental

valida-tion The aim of our modelling approach was to

qualitatively predict the interplay between various

molecules and feedback mechanisms, requiring

consid-eration of all known pathway components Obviously,

a mathematical model that includes all known

nega-tive and posinega-tive feedbacks represents an

underdeter-mined system as it contains too many parameters that

cannot be reliably estimated from the experimental

data To verify the predictive power of our model, a

sensitivity analysis of 998 parameter sets describing

the experimental data was performed, and the results

obtained were compared to those for the original

parameter set (Fig 2A,B) The observations were

comparable, indicating that they are intrinsic

proper-ties of the model structure The robustness of

sensitiv-ity against single parameter changes has been

described by Gutenkunst et al [32], suggesting that

model predictions are reasonable when they are

derived from collective fits and can only be improved

by precise and complete measurements of all kinetic

parameters According to the sensitivity analysis,

IRF9 is a decisive factor in IFNa signalling as it

rep-resents the only component that both augments and

accelerates antiviral gene expression This was

con-firmed by in silico analysis simulating IRF9

over-expression and subsequently experimentally validated

(Fig 3A,B) Our approach focused on the qualitative

analysis of mechanisms that determine signalling speed and the extent of pathway activation The model was used to design experiments that would be most infor-mative, and the experimental data were in qualitative agreement with the model predictions, although some deviations in quantitative terms were observed, such

as smaller differences between peaks in experimental data compared to the model prediction Importantly, the main characteristics of signalling kinetics could be validated

Increasing the initial IRF9 concentration by over-expression resulted in higher levels of phosphorylated STAT proteins in the nucleus, and consequently augmented expression of IFNa target genes This is consistent with previous reports describing the impact of IRF9 on the amount of active ISGF3 [8–11] However, in contrast to previous studies, we analysed the IFNa response in a time-resolved manner We showed that enhanced IFNa-induced gene expression not only applies at isolated time points but also for the overall integrated response In addition, we demon-strated that IRF9 is also crucial for the speed of the IFNa response, with higher IRF9 levels accelerating signal transduction and gene expression Theoretically, these effects of IRF9 could be achieved by two mechanisms: by increased nuclear import of the signal transducers or by IRF9-mediated protection from nuclear phosphatases Model analysis excluded acceler-ated nuclear import and indicacceler-ated protection from nuclear phosphatases as the underlying mechanism These mechanisms are difficult to address experimen-tally, but, by disentangling the involved processes, the mathematical modelling approach provides important insights for further studies

Both in wildtype and IRF9 overexpressing cells, the analysed genes showed different expression kinetics Possible mechanisms explaining this behaviour are varying production rates and differences in mRNA stability Furthermore, IFN-stimulated transcription factors may account for the sustained activation of certain genes, constituting positive feedback loops Regulatory networks in which individual genes are regulated by a cascade of multiple transcription fac-tors were recently shown to play an important role in the antiviral response [33] Here, SOCS1 expression was rapidly activated and repressed, whereas the acti-vation of USP18 was sustained These obseracti-vations are in agreement with a recent report stating that SOCS1 is responsible for early inhibition of IFNa sig-nalling, whereas USP18 mediates late inhibition [34] The sustained response could be explained by an addi-tional positive feedback As shown in previous studies, expression of the IRF9 gene is regulated through a

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positive feedback loop by the IFN-stimulated

tran-scription factor CCAAT-enhancer-binding protein b

(C⁄ EBP-b) [35] The prolonged up-regulation of other

IFN-stimulated genes could be mediated by IRF7,

which is produced in response to IFNa and is able to

bind promoters of IFN-inducible genes [36] The

exis-tence of positive feedback mechanisms could be a

gen-eral design principle in IFN signalling to enhance the

antiviral response In contrast to oncogenic pathways,

augmented IFN signalling is not detrimental to an

organism, as it does not lead to uncontrolled cell

pro-liferation, but rather to apoptosis [37]

While we were performing experiments in Huh7.5

cells to validate the model predictions, the enhanced

IFN response as an effect of increased IRF9 levels was

also demonstrated in various cell types, suggesting a

general mechanism [11,12] Individual cells in a cell

population may elicit different responses [38]

Never-theless, we aimed to develop a population-based

model, as the IFNa response primarily occurs at the

tissue level, comprising a population of individual cells

Additionally, regulation of gene expression is likely to

differ between individuals Therefore, variations in

either IRF9 initial concentrations or the IRF9

induc-tion rate may be one reason for patient-to-patient

vari-ations in responses to IFNa therapy As demonstrated

by model simulations, not only higher IRF9 levels, but

also faster IRF9 synthesis, significantly augment early

IFN signalling Consequently, the balance between

positive and negative feedback loops (e.g IRF9⁄

SOCS) may be decisive

As a rapid IFN response could be crucial for a viral

infection [2], the IRF9 level in a cell may play a

pivotal role In line with this, IRF9 was shown to be

targeted by several viruses in order to interfere with

the cellular antiviral response, as demonstrated for

human papillomavirus [39,40], reovirus [41],

adeno-virus [12], hepatitis B adeno-virus [42] and human

cytomega-lovirus [43] Moreover, it was shown that elevated

IRF9 levels increase the antiviral response [10,12]

Additionally, it was recently reported that IRF9 is

necessary for the anti-proliferative activity of IFNa, as

only RNAi against IRF9, but not against STAT1,

inhibited IFNa-mediated apoptosis [44]

In conclusion, our modelling approach, in

combi-nation with experimental analysis, confirmed that

ele-vated IRF9 starting levels are a crucial determinant

for amplified IFNa-mediated antiviral signalling,

and additionally identified the IRF9 level to be vital

for a rapid response As a key regulator shaping

the early phase of IFNa signalling, IRF9

repre-sents an appealing target for innovative therapeutic

approaches

Experimental procedures

Cells and time-course experiments

Huh7.5 cells (a kind gift from C M Rice, Laboratory of Virology and Infectious Disease, Rockefeller University, NY) were cultivated in Dulbecco’s modified Eagle’s medium (DMEM; Invitrogen, Carlsbad, CA, USA) supple-mented with 10% fetal bovine serum (Invitrogen) and 1% penicillin⁄ streptomycin (Invitrogen) One day before com-mencement of a time-course experiment, 1.7· 106 cells were seeded into 6 cm dishes Prior to stimulation with IFNa, the cells were washed three times by removing the culture medium and replacing it with DMEM, and after-wards cultivated in starvation medium for 3 h [DMEM supplemented with 1 mgÆmL)1BSA (Sigma-Aldrich, St Louis,

MO, USA) and 25 mm Hepes pH 7.0 (Invitrogen)]

To stimulate cells, human leukocyte IFNa (R&D Systems, Minneapolis, MN, USA) was added to the medium to a final concentration of 500 UÆmL)1 For each time point, the contents of one dish were lysed using 1% Nonidet P-40 lysis buffer (1% Nonidet P-40, 150 mm NaCl, 20 mm Tris

pH 7.4, 10 mm NaF, 1 mm EDTA pH 8.0, 1 mm ZnCl2

pH 4.0, 1 mm MgCl2, 1 mm Na3VO4, 10% glycerol, freshly supplemented with 2 lgÆmL)1 aprotinin and 200 lgÆmL)1 4-(2-aminoethyl)-benzensulfonylfluoride), and the lysates were used for immunoprecipitation or directly analysed by SDS⁄ PAGE For cell fractionation, cells were lysed using 0.4% Nonidet P-40 cytoplasmic lysis buffer (0.4% Noni-det P-40, 10 mm Hepes pH 7.9, 10 mm KCl, 0.1 mm EDTA, 0.1 mm EGTA, freshly supplemented with

2 lgÆmL)1 aprotinin, 200 lgÆmL)1 4-(2-aminoethyl)-benzen-sulfonylfluoride, 1 mm dithiothreitol, 1 mm NaF, 0.1 mm

Na3VO4), and vortexed for 10 s After centrifugation (1 min at 17 900 g, 4C), supernatants were used as the cytoplasmic fraction and the nuclear pellet was resus-pended in nuclear lysis buffer (20 mm Hepes pH 7.9, 25% glycerin, 400 mm NaCl, 1 mm EDTA, 1 mm EGTA, freshly supplemented with 2 lgÆmL)1 aprotinin, 200 lgÆmL)1 4-(2-aminoethyl)-benzensulfonylfluoride, 1 mm dithiothreitol,

1 mm NaF, 0.1 mm Na3VO4) by repeated vortexing The suitability of the procedure was verified by confirming the presence of the nuclear marker protein poly [ADP-ribose] polymerase 1 and the cytoplasmic marker protein Eps15 in the corresponding fractions

Primary human hepatocytes were isolated and cultivated

in serum-free Williams’ Medium E (Biochrom AG, Berlin, Germany) [45] The viability of isolated hepatocytes was determined by trypan blue exclusion Only cell preparations with a viability > 80% were used for experiments The iso-lated cells were seeded on collagen type I-coated culture dishes at a density of 1.2· 105

cells per cm2 Tissue sam-ples from human liver resection were obtained from patients undergoing partial hepatectomy for metastatic liver tumor secondary to colorectal cancer Experimental

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procedures were performed according to the guidelines of

the charitable state-controlled foundation Human Tissue

and Cell Research, with the patient’s informed consent [46],

as approved by the local ethical committee

The day after isolation, the primary hepatocytes were

cul-tivated for 2 days in Williams Medium E supplemented with

2 mm l-glutamine (Invitrogen), 100 nm dexomethasone

(Sigma) and 1% penicillin⁄ streptomycin (Invitrogen) Prior

to stimulation with IFNa, the cells were washed three times

by removing the culture medium and replacing it with

Williams Medium E and afterwards cultivated in starvation

medium for 3 h (Williams Medium E supplemented with

2 mm l-glutamine) The time-course experiment was

per-formed according to the protocol for Huh7.5 cells

Quantitative immunoblotting

For immunoprecipitation, the lysates were incubated with

anti-JAK1 serum (Upstate Millipore, Billerica, MA, USA)

and anti-TYK2 polyclonal IgGs (Upstate Millipore) and

protein A–Sepharose beads (GE Healthcare, Chalfont, NJ,

United Kingdom) For cellular lysates, protein

concentra-tions were measured using the BCA assay (Pierce, Thermo

Fisher Scientific Inc., Waltham, MA, USA)

Immunoprecipi-tated proteins, cytoplasmic (70–80 lg) or nuclear lysates

(45 lg) were loaded in a randomized manner on a 10%

SDS⁄ polyacrylamide gel as described previously [47],

sepa-rated by electrophoresis and transferred to poly(vinylidene

difluoride) (STATs, IRF9) or nitrocellulose membranes

(JAK1, TYK2) Proteins were immobilized using Ponceau S

solution (Sigma-Aldrich) followed by immunoblotting

anal-ysis using anti-phosphotyrosine monoclonal IgG 4G10

(Upstate Millipore) for the phosphorylation signal of

im-munoprecipitated JAK1 and TYK2, anti-phospho-STAT1

IgG (Cell Signaling Technologies, Danvers, MA, USA),

anti-phospho-STAT2 IgG (Cell Signaling Technologies)

and anti-IRF9 IgG (BD Bioscience, Franklin Lakes, NJ,

USA) Antibodies were removed by treating the blots with

b-mercaptoethanol and SDS Reprobing was performed

using anti-JAK1 (Cell Signaling Technologies), anti-TYK2

(Upstate Millipore), anti-STAT1 and anti-STAT2 (Upstate

Millipore) For normalization, IgGs against calnexin

(Stressgen, Enzo Life Sciences, Plymouth Meeting, PA,

USA) and poly [ADP-ribose] polymerase 1 (Roche, Basel,

Switzerland) were used Secondary horseradish

peroxidase-conjugated IgGs (anti-rabbit HRP, anti-goat HRP,

protein A HRP) were purchased from GE Healthcare

Immunoblots were incubated with enhanced

chemilumines-cence (ECL) or ECL Advance substrate (Amersham), and

signals were detected using a CCD camera (LumiImager F1

workstation; Roche) This ensured measurements were in

the linear range, avoiding saturation effects Data were

quantified using lumianalyst 3.1 software (Roche)

Quantitative immunoblotting data were processed using

gelinspectorsoftware [48] The following normalizers were

used: GST-TYK2DC or GST-JAK1DN for pJAK1, JAK1, pTYK2 and TYK2, calnexin for pSTAT1, STAT1, pSTAT2, STAT2 and IRF9, in the cytoplasm and poly [ADP-ribose] polymerase 1 for pSTAT1, STAT1, pSTAT2, STAT2 and IRF9 in the nucleus To smooth spline estimates of the data, MATLAB (http://www.mathworks.com) csaps-splines with a smoothness between 0.7 and 0.9 were used

Plasmids, recombinant proteins and lentiviral transduction

Recombinant proteins were used as normalizers and as refer-ences to determine the number of molecules per cell To generate N-terminally GST- and SBP-tagged constructs, the pGEX system (GE Healthcare) and the derived pSBPEX sys-tem, in which glutathione S-transferase (GST) was replaced

by strepatavidin binding tag (SBP), were used To construct GST-TYK2DC, the N-terminal FERM and SH2 domain of TYK2 (amino acid 1–586) were amplified by PCR, using human TYK2 cDNA (Open Biosystems, Huntsville, AL, USA, cDNA number 4591726) as template The resulting fragment was cloned into the BamHI–EcoRI site of pGEX-2T GST-JAK1DN was generated by amplifying human JAK1 cDNA (a kind gift from I Behrmann, Life Sciences Research Unit, University of Luxembourg) from the SH2 domain to the C-terminus (amino acids 421–1150) The resulting fragment was cloned into the BamHI–EcoRI site of pGEX-2T SBP-STAT1DN was generated by amplifying human STAT1 cDNA (a kind gift from H Hauser, Helmholtz Centre for Infection Research, Braunschweig, Germany), to yield a product corresponding to amino acids 131–750 The resulting fragment was cloned into the BamHI–EcoRI site of pSBPEX-2T SBP-STAT2DN was gen-erated by amplifying human STAT2 cDNA (a kind gift from

H Hauser, Helmholtz Centre for Infection Research, Braun-schweig Germany), resulting in a product corresponding to amino acids 133–851 The resulting fragment was cloned into the BamHI–EcoRI site of pSBPEX-2T To express the recombinant proteins, the expression plasmids were trans-formed into competent Escherichia coli BL21(DE3) Codon-PlusRIL (Stratagene, Agilent, Santa Clara, CA, USA), and proteins were purified using glutathione–Sepharose beads for GST-tagged proteins, or streptavidin–Sepharose beads for SBP-tagged proteins GST-tagged IRF9 was kindly provided

by Rainer Zawatzky (German Cancer Research Center, Divi-sion of Viral Transformation Mechanisms, Germany) For over-expression studies, IRF9 cDNA was cloned into the lentiviral expression vector pRRLSIN.cPPT.PGK-GFP.WPRE (deposited in the non-profit plasmid repository Addgene, number 12252) by PCR amplification of pCMV-Sport6-IRF9 (Open Biosystems) and digestion with BamHI and SalI, replacing the gene encoding GFP (green fluorescent protein) and resulting in pRRLSIN.cPPT.PGK-IRF9.WPRE

To generate pRRLSIN.cPPT.PGK-MCS.WPRE, a multiple cloning site with the restriction sites BmtI, PacI, SmaI, PstI,

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