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Angeletti, Pomezia Roma, Italy; 3 Dipartimento di Scienze Biochimiche ƠRossi FanelliÕ, Universita'di Roma ƠLa SapienzaÕ, Roma, Italy Ligand binding by the aryl hydrocarbon receptor AhR,

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A model for recognition of polychlorinated dibenzo- p -dioxins

by the aryl hydrocarbon receptor

M Procopio1, A Lahm2, A Tramontano3, L Bonati1and D Pitea1

1 Dipartimento di Scienze dellÕAmbiente e del Territorio, UniversitaÁ degli Studi di Milano-Bicocca, Milano, Italy;

2 Istituto di Ricerche di Biologia Molecolare P Angeletti, Pomezia (Roma), Italy;

3 Dipartimento di Scienze Biochimiche ƠRossi FanelliÕ, Universita'di Roma ƠLa SapienzaÕ, Roma, Italy

Ligand binding by the aryl hydrocarbon receptor (AhR), a

member of the bHLH-PAS family of transcriptional

reg-ulatory proteins, has been mapped to a region within the

second ƠPASÕ domain, a conserved sequence motif ®rst

discovered in the Per-ARNT-Sim family of proteins In

addition to the bacterial photoactive yellow protein (PYP),

which had been proposed as a structural prototype for the

three dimensional fold of PAS domains, two crystal

structures of the PAS domain have recently been

deter-mined: the human potassium channel HERG and the

heme binding domain of the bacterial O2 sensing FixL

protein The three structures reveal a highly conserved

structural framework in evolutionary rather distant PAS

domains, provide a more general view of how these domains can recognize their ligands and suggest a structure±function relationship that we exploited to build a three-dimensional model of the ligand binding domain (LBD) of the mouse aryl hydrocarbon receptor (mAhR) The model allowed us to putatively identify the residues responsible for the recognition of polychlorinated dibenzo-p-dioxins (PCDDs) by AhR receptors and to formulate an hypothesis on the signal transduction mechanism Keywords: aryl hydrocarbon receptor; polychlorinated dibenzo-p-dioxins; structure prediction; protein modelling; molecular recognition

Studies on the biological mechanism of action of

polychlo-rinated dibenzo-p-dioxins (PCDDs) indicate that their

biological effects are mediated by binding to a speci®c

cytoplasmic protein, the aryl hydrocarbon receptor (AhR)

[1]

Ligand-induced activation of AhR initiates a process

whereby the receptor is transformed into a nuclear

transcription factor by forming a complex with the protein

ARNT (Ah receptor nuclear translocator) Speci®c

recog-nition of XRE DNA sequences (xenobiotic responsive

elements) by the ligand-activated AhR/ARNT heterodimer

then induces transcription of genes encoding xenobiotic

metabolizing enzymes [2] Understanding the PCDD±AhR

binding process at a molecular level is therefore a key step

for gaining insight into the biological mechanism of action

of these compounds

The structure±activity relationship (SAR) of the PCDD±

AhR interaction has been studied with the aim of

correlat-ing physico-chemical properties of the ligands and their biological activities [3±5] In particular, we analysed a series

of PCDDs with varying binding af®nities [4,5] on the basis

of their molecular electrostatic potential (MEP) and molec-ular polarizability and concluded that the requirements for high af®nities are the concentration of negative MEP values

at the extremes of the ligand's long axis and a depleted charge above and below the aromatic rings This led to the hypothesis that there are favorable interactions with a receptor nucleophilic site in the central part of the ligand and with electrophilic sites at both sides of the principal molecular axis A necessary next step to understand the PCDD±AhR interaction and to identify the amino-acid residues directly interacting with PCDDs is the construction

of a three-dimensional model for the AhR ligand binding domain (LBD)

AhR and ARNT belong to the Per-ARNT-Sim (PAS) family of proteins [6,7], whose members act as transcrip-tional activators, sensor modules of two-component regu-latory systems or as ion channels [8] PAS domains are found predominantly in proteins that are involved, directly

or indirectly, in signal transduction Their known functions are in some cases to mediate protein±protein interactions and, in other cases, such as for AhR, ligand and/or cofactor binding [8]

In AhR, two PAS domains are present in a 270-residue region encompassing two imperfect repeats of  110 amino acids (PAS-A and PAS-B) separated by a sequence of  50 amino acids A minimal LBD was mapped in the mouse AhR (mAhR) between amino acids 230 and 397, the region that encompasses the PAS-B repeat [9] While deletion of the PAS-A repeat (amino acids 121±182) reduced ligand binding only to 30%, deletion of the PAS-B repeat (amino acids 259±374) completely abolished binding, as did deletion

Correspondence to A Tramontano, Department of Biochemical

Sciences ƠRossi FanelliÕ, University of Rome ƠLa SapienzaP.le Aldo

Moro, 500185 Rome Fax: + 39 06 91093482,

Tel.: + 39 06 91093207, E-mail: Anna.Tramontano@uniroma1.it

Abbreviations: AhR, aryl hydrocarbon receptor; PYP, photoactive

yellow protein; LBD, ligand binding domain; mAhR, mouse aryl

hydrocarbon receptor; PCDD, polychlorinated dibenzo-p-dioxin;

ARNT, Ah receptor nuclear translocator; XRE, xenobiotic responsive

elements; SAR, structure±activity relationship; MEP, molecular

electrostatic potential; PAS, Per-ARNT-Sim protein family; TCDD,

tetrachlorodibenzo-p-dioxin.

(Received 10 August 2001, revised 20 September 2001, accepted 16

October 2001)

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of the complete PAS region [9] In the same study it was

already shown that modi®cations outside the PAS domain

had no effect on ligand binding

A structural prototype for the three-dimensional fold of

the PAS domain superfamily has been proposed to be the

structure of the photoactive yellow protein (PYP), a

bacterial light-sensing protein [10] However, the crystal

structures of two other PAS domains [11,12] have been

recently determined and their analysis allowed us to build a

three-dimensional model of the mAhR LBD and to

investigate its ligand binding site at the molecular level

R E S U L T S A N D D I S C U S S I O N

Structure prediction

Application of a recursive PSI-BLAST [13] search (default

parameters) against the nonredundant protein sequence

database revealed a high number of matches between the

mAhR LBD and many other PAS proteins, including

hypoxia-inducible factor 1a, several histidine kinases, light

receptors, regulatory proteins, clock proteins (such as the

period clock protein PER), sensor proteins (oxygen/redox

sensors) and ion channels The crystal structures of the PAS

domains of two of these proteins were recently solved: the

human potassium channel HERG [11] and the heme

binding domain of the bacterial O2sensing FixL protein

[12] Both structures were detected after four (HERG) or

eight (FixL) PSI-BLAST iteration cycles, as was the PYP

protein (iteration 6) Although E values were initially rather

high (> 0.1) for all three structures, E values for HERG

and FixL became highly signi®cant (< 10)4) as the search

progressed A search including only the database of known

protein structures neither found any of these structures, nor

highlighted any other statistically signi®cant homologies

The structures of the HERG and FixL PAS domains are

shown in Fig 1 together with the PYP structure Given the

low level of sequence identity [15], the high structural conservation is quite unexpected: all the structures are formed by a ®ve-stranded antiparallel b sheet with a helices

on one side Although all three domains belong to proteins involved in signalling processes and are expected to transmit

a signal through protein±protein interactions, they have developed quite different mechanisms to perform their function While the HERG PAS domain does not bind a ligand [11], both the FixL PAS domain and PYP are activated by ligands; in FixL, oxygen binding at the heme binding PAS domain controls the activity of a histidine kinase domain [12]; and in PYP, a local conformational change occurs once the p-hydroxycinnamoyl cromophore is bound [10]

The largest conformational difference between the FixL and the HERG and PYP structures occurs in the so-called helical connector, the long central helix, which shows a translational displacement of  7 AÊ that allows the accom-modation of the heme cofactor (Fig 1C) [12] The hydro-phobic core of the three domains is generally well conserved, but two buried residues in FixL differ signi®cantly in size from the structurally equivalent residues in PYP and HERG, again favoring the heme binding These are glycines

224 and 251 that substitute Phe96 and Val120 in PYP, and Phe98 and Leu127 in HERG [16]

For both FixL and PYP, structures are known for the inactive and active signaling states In the case of PYP, conformational changes occur in the neighborhood of the p-hydroxycinnamoyl cromophore and are transmitted to the surface of the protein primarily through the cromophore and Arg52 [10] In FixL, the heme propionate groups are suggested to relay the spin transition signal by transducing the increased planarity of the puckered porphyrin ring into backbone and side-chain conformational changes within a loop (residues 211±215) immediately following the helical connector [12] The suggested signal transducing regions of PYP and FixL are thus located at the opposite ends of the

Fig 1 Schematic representation of the HERG (A), PYP (B), and FixL (C) PAS domains displaying the high degree of structural similarity The largest shift amongst the conserved secondary element position occurs in FixL due to the presence of the large heme cofactor Secondary structure elements are colored blue (strands) and red (helices), cofactor ligands green (A), (B) and (C) were generated using RIBBONS [28] Coordinate sets used correspond to entries 1BV5(FixL) [12], 2PYP(PYP) [10] and 1BYW(HERG) [11] of the PDB protein data bank [14].

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long central helix, highlighting the importance of this region

and the ¯anking loops as the critical regulatory region of the

PAS domain family [16], with the remainder of the PAS fold

serving as a structural scaffold

When sequence similarity between the target and

potential template sequences is low, as in our case, the

correctness of the alignment plays a crucial role both in the

selection of the correct template and in the expected ®nal

quality of the model Other information, such as predicted

and observed secondary structures of the target and

template proteins, and sequence and structure conservation

in their families, should therefore be used to re®ne the

alignment

The consensus secondary structure for residues 230±397

of the mAhR LBD as predicted by theJPREDserver [17,18] is

reported in Fig 2 together with the observed secondary

structure of the three template candidates The ®nal

sequence alignment used for modelling is reported in the

same ®gure This sequence alignment differs somehow from

PAS domain alignment recently proposed [8], as it was produced manually taking into account the predicted secondary structure of AhR LBD, the observed secondary structure and FSSP structural alignment for FixL, HERG and PYP, and the conservation pattern in a multiple alignment of AhR sequences For clarity, in Fig 2 we only show some of these latter sequences and, for comparison, a subset of sequences from the related ARNT proteins The AhR sequences in Fig 2 were selected for their differences in the response to PCDDs: the human Ah receptor that has an af®nity for 2,3,7,8-TCDD sixfold lower than mAhR [19]; the AhR-1 ortholog of Caenorhabditis elegans (AhR-1C.E.), neither photoaf®nity labeled by a dioxin analog, nor activated by b-naphto¯avone in a yeast system [20]; the rainbow trout AhRa that binds TCDD [21] and the Microgadus Tomcod AhR also activated by TCDD [22]

All alignments were manipulated using the interactive display programSEAVIEW[23]

Fig 2 Alignment of Ah receptors and their predicted secondary structure against the three structural templates aligned according to FSSP a Helices and b strands are represented as white and black bars, respectively Secondary structure assignment for FixL, PYP and HERG is derived from the PDB entries Colouring scheme for residues: red: acidic; blue: basic; purple: polar; yellow: Cys; brown: aromatic; green: hydrophobic; orange: Ser,Thr; grey: Pro; white: Gly.

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Because of the closer functional homology (noncovalent

interaction with a ligand) we used FixL as a template for

modelling This choice was also motivated by the

observa-tion that the helical connector in FixL is translated away

from the b sheet with respect to HERG and PYP (Fig 1)

thus allowing binding of the heme-ligand, a situation

expected to be present in a similar fashion also in AhR

The sequence corresponding to mAhR residues 275±380

was therefore inscribed onto the structural template

pro-vided by FixL according to the alignment shown in Fig 2,

and, subsequently, the necessary insertions and deletions were modeled (Fig 3A) AhR residues 381±397 were not modeled because the corresponding helix in FixL is pointing away from the barrel and should not be involved in ligand binding AhR residues 286±288 could be modeled using the corresponding loop of equal length from the HERG structure, while all other insertions and deletions were constructed using a fragment database search procedure [24] The one-residue insertion at position 314 correlates well with the presence of a hydrophilic residue at the spatially close position 282 replacing the buried hydrophobic Ile present in FixL

Fig 3 Comparison between the mAhR model (A,C) and the parental FixL PAS domain structure (B,D) In (A) and (B) residues that in¯uence the size

of the ligand pocket are highlighted The arrow indicates the shift of the helical connector (orange) in AhR with respect to FixL Loop regions where insertions or deletions had to be accomodated in the AhR model are coloured magenta In (C) and (D) a close-up of the AhR and FixL ligand binding pockets is shown The key elements in the proposed signal transduction mechanism for FixL, a change in side-chain conformation of Arg206, Thr210 and Asp212, are conserved in AhR with Arg333, Thr337 and Glu339 equivalently positioned, ready to sense and transduce the presence of the PCDD ligand Additional AhR residues involved in ligand recognition and discrimination are Arg282 and Gln377 close to the polar end of the ligand inside the pocket TCDD and heme cofactor atoms are colored green (carbon), red (oxygen), blue (nitrogen), yellow (iron) and magenta (chlorine).

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The postulated signaling loop of FixL (amino acids 211±

215) following the helical connector had to be substituted by

a shorther fragment in mAhR (Fig 2, amino acids 335±338)

that could only be achieved in our model by manually

shifting the helix towards the b sheet

A last insertion occurred at Gly368, in a loop region

unlikely to be involved in interactions with the ligand

The backbone geometry of the resulting model was

regularized withWHAT IF [25], the side-chain rotamers of

substituted residues optimized using SCWRL [26] and the

model analyzed without any further modi®cations

A model for recognition of PCDDs by Ah receptors

The most noticeable conformational difference between the

mAhR model and the FixL template is the relative position

of the helical connector that moves closer to the b sheet, thus

reducing the size of the binding cavity entrance (Fig 3) The

helix position, intermediate between that observed in HERG

and in FixL, correlates well with the functional role of the

hydrophobic core in the three proteins, while HERG lacks

any binding activity; the modeled mAhR binds PCDDs and

FixL has to accomodate the larger heme cofactor

The AhR residues at positions important for heme

binding in FixL support our model Gly224 and Gly251 in

the hydrophobic core of FixL correspond to Leu347 and

Ala375 in mAhR thus reducing the size of the cavity This is

also consistent with site-directed mutagenesis results that

identi®ed Ala375 as critical for the ligand binding activity

[19] Interestingly, there is also a good correlation between

the size of the side-chain at this position and the size of

the ligand While the latter decreases from FixL to AhR

to HERG, the side-chain volume increases (from Gly251

to Ala375 to Leu127) Moreover, human AhR and

AhR-1C.E., both with reduced af®nity for PCDDs, have

bigger side-chains at this position (Val and Leu, respectively)

partially ®lling the binding cavity The residue coordinating

the ferric heme ion in FixL, His200, is substituted by Cys327

in all AhR receptors, except for AhR-1C.E where

methi-onine is present

At the entrance of the FixL ligand cavity, Arg220, that

binds a heme propionate group, is replaced by Thr in all

AhR (Thr343 in mAhR), except for human AhR and

AhR-1C.E that have isoleucine and leucine, respectively

While the CG2 methyl group of Thr could mediate

hydro-phobic interactions with the ligand, both isoleucine and

leucine will partially block the entrance and reduce af®nity

None of these residues, characteristic of the AhR

proteins, are conserved in the homologous ARNT proteins

(Fig 2) which have no ligand binding activity

Additional information about the PCDD±AhR binding

can be deduced by analyzing the proposed mechanisms for

signal transduction of FixL [12,16,27] According to Perutz

et al [27], the pathway starts at Ile215, Leu236, Ile238,

which form a hydrophobic triad around the heme ligand

The movements of these residues are transmitted to, and

ampli®ed by, a loop that includes Pro213, and then

transmitted to other atoms including the heme

propio-nates A different key residue has been proposed by Gong

et al [12] who indicated the interaction between heme

propionates and His (or Arg) 214 as the starting event of

the protein conformational change It has also been

observed that, going from the unbound to the bound

state, Arg206 affects the position of Asp212, which in turn undergoes the largest conformational change of all the sidechains [12]

Interestingly, although the conformation of the signaling loop had to be altered in the mAhR model, Arg206 and Thr210 of FixL are in equivalent structural positions as Arg333 and Thr337 in mAhR and Asp212 of FixL is replaced by the very similar Glu339 These three residues are conserved in all Ah receptors and are not present in the other PAS proteins analyzed Therefore, by analogy with the FixL mechanism, it is conceivable that, once PCDD is bound, Arg333 in mAhR is involved in the interaction with one of the chlorine atoms and breaks the hydrogen bond with Glu339 that changes conformation

The ligand with the highest af®nity for the AhR is 2,3,7,8-TCDD and our model can be used to investigate its mode of binding, under the assumption that the molecular plane of TCDD is in a similar position as that of the heme group in FixL We highlight in Figs 3C,D, the residues predicted to mediate key ligand interactions in the proposed binding cavity The size of Ala375 is important for ligand accom-modation, Cys327 could interact with the electrophilic central region of TCDD [4], Thr343 possibly stabilizes the complex by hydrophobic interactions, Arg333, at the entrance of the cavity, may guide TCDD towards its binding site by long-range electrostatic interactions and, by interacting with chlorine atoms of TCDD, may promote a signal transduction mechanism through Glu339, similar to that of FixL Two additional residues, Arg282 and Phe345, are shown in the Fig 3 While Arg282, replaced by Gln in some Ah receptors and pointing to the TCDD chlorinated side, may contribute to the binding by electrostatic interac-tions or hydrogen bond, Phe345, lining one side of the ligand pocket, could interact with the aromatic ringsystem

of TCDD Ultimately, Gln377, characteristic of all Ah receptors and not present in other PAS proteins, could form hydrogen bonds with chlorine atoms in the predicted binding cavity for TCDD

Most of the proposed interactions ®t well with the electrostatic characteristics we highlighted in previous QSAR studies on ligand properties [4,5] The requirements

of a nucleophilic site in the central part of the ligand and of electrophilic sites at the sides of the principal molecular axis are both explained by our model

C O N C L U S I O N S

Given the limitations in today's modelling and prediction techniques, the model presented here has to be considered only an approximate and probably incomplete picture of the ligand binding domain of AhR and of its interactions with PCDDs It should also be emphasized that the LBD is part

of a much larger protein and some features of the Ah receptor system might not be explainable in terms of the isolated domain

PYP has been previously proposed as an appropriate structural template for AhR, but our analysis of the recently determined structures of the FixL and the HERG PAS domains strongly suggests that a model based on FixL is more likely to be correct On one hand, the availability of the three structures indicates that the position of the helical connector can differ On the other, the closer functional homology between FixL and AhR, the secondary structure

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prediction and the size of the ligand all point to FixL as a

more suitable candidate

Our model, although based on low sequence similarity, is

capable of explaining all known experimental and

theoret-ical data and therefore we believe it to be accurate enough to

serve as a framework for further experiments such as site

directed mutagenesis of residues proposed to mediate the

AhR±PCDD interaction and docking calculations to more

accurately de®ne the orientation of the ligand in the binding

cavity

A C K N O W L E D G E M E N T S

The ®nancial support by the Italian CNR (grant no 98.03245.ST74)

and the Fondazione Lombardia per l'Ambiente is gratefully

acknowl-edged.

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