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Báo cáo khoa học: Modeled ligand-protein complexes elucidate the origin of substrate specificity and provide insight into catalytic mechanisms of phenylalanine hydroxylase and tyrosine hydroxylase pptx

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Despite the similarities between THand PAHregarding the structure of the active site and the catalytic mecha-nism, there is one striking difference: THaccepts also phenylalanine as subst

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Modeled ligand-protein complexes elucidate the origin of substrate specificity and provide insight into catalytic mechanisms

of phenylalanine hydroxylase and tyrosine hydroxylase

Astrid Maaß1, Joachim Scholz2,3and Andreas Moser2

1

Fraunhofer-Institute for Algorithms and Scientific Computing (SCAI), Schloss Birlinghoven, Sankt Augustin, Germany;

2

NeurochemistryResearch Group, Department of Neurology, Medical Universityof Lu¨beck, Lu¨beck, Germany;

3 Neural PlasticityResearch Group, Department of Anesthesia and Critical Care, Massachusetts General Hospital

and Harvard Medical School, Charlestown, Massachusetts, USA

NMR spectroscopy and X-ray crystallography have

provi-ded important insight into structural features of

phenyl-alanine hydroxylase (PAH) and tyrosine hydroxylase (TH)

Nevertheless, significant problems such as the substrate

specificity of PAHand the different susceptibility of TH

to feedback inhibition by L-3,4-dihydroxyphenylalanine

(L-DOPA) compared with dopamine (DA) remain

unre-solved Based on the crystal structures 5pah for PAHand

2toh for TH(Protein Data Bank), we have used molecular

docking to model the binding of 6(R)-L

-erythro-5,6,7,8-tetrahydrobiopterin (BH4) and the substrates phenylalanine

and tyrosine to the catalytic domains of PAHand TH

The amino acid substrates were placed in positions common

to both enzymes The productive position of tyrosine

in THÆBH4was stabilized by a hydrogen bond with BH4

Despite favorable energy scores, tyrosine in a position trans

to PAHresidue His290 or THresidue His336 interferes with the access of the essential cofactor dioxygen to the catalytic center, thereby blocking the enzymatic reaction DA and

L-DOPA were directly coordinated to the active site iron via the hydroxyl residues of their catechol groups Two alter-native conformations, rotated 180 around an imaginary iron–catecholamine axis, were found for DA andL-DOPA

in PAHand for DA in TH Electrostatic forces play a key role in hindering the bidentate binding of the immediate reaction productL-DOPA to TH, thereby saving the enzyme from direct feedback inhibition

Keywords: phenylalanine hydroxylase; tyrosine hydroxylase; substrate specificity; catecholamines; feedback inhibition

Phenylalanine hydroxylase (PAH, EC 1.14.16.1), tyrosine

hydroxylase (TH, EC 1.14.16.2), and tryptophan

hydroxy-lase (TPH, EC 1.14.16.4) constitute a family of closely

related aromatic amino acid hydroxylases sharing structural

as well as functional features [1,2] The three enzymes are

each composed of an N-terminal regulatory domain and a

C-terminal region containing a highly conserved catalytic

core domain and a tetramerization domain [3] Studies using

partial proteolysis or heterologous expression of truncated

enzymes have shown that the C-terminal amino acids 165–

479 of rat TH[4] and the C-terminal residues 142–410 of rat PAH[5] retain the catalytic activity of these enzymes Sequence comparison reveals that the catalytic domains of THand PAHpossess 65% sequence identity and 80% homology [3] (Fig 1) In a catalytic mechanism shared by PAHand TH, an aromatic amino acid is hydroxylated within the highly conserved active site containing a single, iron(II) atom Dioxygen and 6(R)-L -erythro-5,6,7,8-tetra-hydrobiopterin (BH4) are essential cosubstrates of the reaction A coupled hydroxylation of the amino acid and the pterin takes place after all three substrates (BH4, dioxygen, amino acid) have bound to the active site [6,7] THand PAHare subject to feedback inhibition by

L-3,4-dihydroxyphenylalanine (L-DOPA), dopamine (DA), noradrenaline and adrenaline These end products of catecholamine synthesis are competitive inhibitors vs BH4 and lead to oxidation of the catalytic iron [8,9]

Analyses of truncated forms of rat TH, rat and human PAHby means of X-ray crystallography have provided insight into the three-dimensional structure of the catalytic domains of the two enzymes [10–13] X-ray crystallography

of 7,8-dihydrobiopterin (7,8-BH2) bound to truncated rat THand human PAHhas identified amino acid residues critical for the positioning of this oxidized cosubstrate in the second coordination sphere of the catalytic iron [13,14] The impact of the structural identity of the pterin cosubstrate on THactivity has been shown in a kinetic study using synthetic pterin analogs [15] Spectroscopic investigations of

Correspondence to A Maaß, Fraunhofer Institute for Algorithms

and Scientific Computing (SCAI), Schloss Birlinghoven,

53754 Sankt Augustin, Germany.

Fax: + 49 2241 142656, Tel.: + 49 2241 142481,

E-mail: astrid.maass@scai.fhg.de

Abbreviations: BH 4 , 6(R)- L -erythro-5,6,7,8,-tetrahydrobiopterin;

7,8-BH 2 , 7,8-dihydrobiopterin; DA, dopamine; L -DOPA,

L -3,4-dihydroxyphenylalanine; PAH, phenylalanine hydroxylase;

TH, tyrosine hydroxylase.

Enzymes: aromatic L -amino acid decarboxylase (EC 4.1.1.28);

phenylalanine hydroxylase (phenylalanine-4-hydroxylase;

EC 1.14.16.1); tryptophan hydroxylase (tryptophan-5-monooxygenase;

EC 1.14.16.4); tyrosine hydroxylase (tyrosine-3-monooxygenase;

EC 1.14.16.2).

(Received 9 October 2002, revised 29 November 2002,

accepted 16 December 2002)

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THand crystallographic data obtained from binary

com-plexes of catecholamines and truncated human PAHhave

demonstrated that the two hydroxyl groups of the catechol

moiety bind to the catalytic iron [16–18]

Despite the similarities between THand PAHregarding

the structure of the active site and the catalytic

mecha-nism, there is one striking difference: THaccepts also

phenylalanine as substrate, with Kmincreased by a factor

of six and Vmaxdecreased by a factor of four compared

with tyrosine [19] In contrast, PAHis not able to further

hydroxylate its product tyrosine Mutation studies have

revealed the significance of single amino acids or larger

portions within the catalytic domain for substrate affinity

and substrate specificity of PAHand TH[19–21]

However, it still remains unresolved as to which actual

features of the structural environment defining the active

site underlie the substrate specificity of PAHand TH

Rapid conversion of active cosubstrates and substrates

into their products makes it difficult to produce complexes

that are sufficiently stable to be crystallized or undergo

NMR spectroscopy Recently, molecular modeling based

on crystal structures [22] or NMR spectroscopy [23] of

PAHwith bound substrate analogs has been employed to

elucidate ligand binding to the active site of this enzyme

Multiple sequence alignment and knowledge of the crystal

coordinates of PAHand THhas been used to model the

full length structure of TPH[24]

We have modeled the catalytic sites of PAHand THand

introduced BH4 and the amino acid substrates

phenyl-alanine or tyrosine by molecular docking in order to

investigate structural properties responsible for the

differ-ence in the substrate specificity of the enzymes In a separate

set of docking experiments, we modeled the inhibition of

PAHand THby catecholamine end products to explain the

reduced susceptibility of THto feedback inhibition by

L-DOPA compared with DA

Experimental procedures

Ligand–protein complexes were generated based on the

crystal structures 5pah for PAHand 2toh for TH(Protein

Data Bank) [13,17] The softwareFLEXX, version 1.7.6 was

used for ligand docking [25] The complexes were optimized

by force-field energy minimization using , version

23.2 [26].CHARMMandCAMLAB, version 1.0 were applied to calculate the total energy in aqueous solution [27] Construction of ligand–protein complexes The active sites in the docking runs included all atoms within a radius of 8.0 A˚ around the reference ligands 7,8-BH2 or DA in the crystal structures 2toh or 5pah, respectively Iron(II) was parametrized for FLEXX as a divalent cation Assuming that dioxygen replaced one of the iron-bound crystal water molecules [13,17], one of these water molecules served as a placeholder within the iron coordination sphere THresidue 300, specified as meta-tyrosine, was reverted to phenylalanine, as this residue has been hydroxylated artificially during crystallization [28] The positions of crystal water molecules within the coordi-nation sphere and of hydrogen atoms added to the protein structure were optimized by 100 steps of conjugate gradient energy minimization with the dielectric constant e¼ 2r and convergence ensured throughout

Ligand structures were divided into fragments and reconstructed stepwise within the active site usingFLEXX

As alternative placements of the ligand fragments are possible, a set of conformations resulted, which were ranked based on their energy score [29] Placements close to the true conformation are supposed to have low energy and will occupy the top ranks

Energy minimization Each complex was subjected to 600 steps of conjugate gradient energy minimization (e¼ 2r) Ligands and iron-bound water molecules were allowed to move freely, whereas the protein and the iron atom were fixed Atomic partial charges of the ligands were calculated using the Charge-Templates method (Quanta, MSI) A cut-off value

of 15 A˚ was applied in the computation of coulombic interactions

Energy calculation The energy-minimized structures were re-ranked according

to their total energy in aqueous solution The total energy was modeled as the sum of theCHARMMforce field energy in

a homogeneous dielectric medium (e¼ 4) plus the solvation energy calculated byCAMLAB The nonpolar contribution to the solvation energy was assumed to be proportional to the solvent-accessible surface of the complex with a surface tension constant of 84 JÆA˚)2 This value is derived from the distribution coefficients for alkanes in polar and nonpolar solvents [27] The polar portion was estimated by solving the Poisson–Boltzmann equation [30,31] twice using a fast multigrid finite difference solver [32] First, the electrostatic energy was calculated for a heterogeneous system with the dielectric constants einternal¼ 4 inside the molecular surface

of the complex, and eexternal¼ eH2O¼ 78.5 outside The molecular surface was defined by the van der Waals radii of atoms composing the complex Secondly, the electrostatic energy was computed assuming a homogeneous dielectric system, with the dielectric constants einternal¼ eexternal¼ 4 The electrostatic contribution to the solvation energy was obtained by the difference between the two electrostatic

Fig 1 Alignment of amino acid residues composing the catalytic

domains of PAH and TH Residues identical in both enzymes are

highlighted Dark gray bars indicate amino acid residues that possess

at least one atom within a distance of 14 A˚ from the catalytic iron and,

based on this criterion, were included in energy calculations.

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energies The total electric charge was +6 for 5pah and)16

for 2toh, as 2toh comprises the catalytic core domain and

the tetramerization domain BH4is uncharged The

aroma-tic amino acids phenylalanine and tyrosine were

implemen-ted in their zwitterionic state with a protonaimplemen-ted amine group

and a carboxylate moiety, resulting in a total charge of zero

DA possesses an electric charge of +1

We restricted the region of the complex for which the

total energy was calculated to those amino acid residues and

molecules that had at least one atom within a radius of 14 A˚

around the iron atom This sphere included about 50% of

the catalytic domain and comprised the entire binding

pocket containing the ligand (Fig 1)

Analysis of results

For each ligand-protein pair, this procedure led to a set of

200–300 diverse structure predictions and relative total

energies Considering that the relevant parts of the

con-formational space were probed and that the relative total

energy is a reasonable approximation of the free energy, the

structure with the lowest total energy should be closest to

the true structure of the complex in solution However,

conformations with low energy values were discarded if the

predicted ligand position extended into the regulatory

domain of PAH[33] Assuming that all reactive ligand

groups are placed in close proximity to the active site iron

immediately before the enzymatic reaction, only placements

within a defined ligand-iron distance were considered

relevant According to the X-ray crystallographic structures

of THand PAHwith bound 7,8-BH2 (2toh, 1dmw), the

carbonyl oxygen of 7,8-BH2is the atom closest to the active

site iron with a distance of 3.6 or 3.8 A˚, respectively

Therefore, conformations of BH4with a maximal distance

dBH4-Feof 4.5 A˚ were included in further analyses (Fig 2)

As an oxygen atom may be placed between the ring of the

amino acid substrates and the active site iron, the maximal

distance dTyr-Feor dPhe-Febetween the center of the ring and

the iron atom was defined as 6.5 A˚ (Fig 2) As previous

spectroscopic and X-ray crystallographic studies have suggested a tight bidentate coordination of catecholamines towards the iron atom, 5.0 A˚ was set as the maximal distance dL -DOPA-Fe or dDA-Fe between an imaginary line connecting the oxygen atoms of the two catechol hydroxyl groups and the iron (Fig 2) This distance criterion would allow bidentate, monodentate and other binding modes to

be included in further analysis

Results

Pterin binding to the catalytic domains of PAH and TH Docking of the native cosubstrate BH4 into the crystal structure of the PAHcatalytic domain yielded a total of

286 conformations Out of these, 44 conformations were considered relevant as the distance between the pterin carbonyl oxygen and the PAHcatalytic iron atom (dBH4-Fe) was less than 4.5 A˚ (Fig 3) The energetically most favorable conformer corresponded with the position of 7,8-BH2bound to PAHat the first coordination sphere of the iron atom as previously determined by NMR spec-troscopy (rmsd 2.4 A˚) [23] and X-ray crystallography (rmsd 2.1 A˚) [14] The pterin backbone was close to the aromatic ring of PAHresidue Phe254, with a relative tilt of about 20 The guadinium moiety was anchored by an H-bond between N1 and the amine group of Leu249 The distance between N4 and the side chain of Glu286 was 4.6 A˚ This allows a putative water molecule to be placed

in between, which stabilizes the complex by additional H-bonds (Fig 3)

Docking BH4into the crystal structure of THproduced

300 conformations; in 46 out of these, the distance dBH4-Fe was shorter than 4.5 A˚ (Fig 3) The energetically most favorable placement was very similar to the conformation of

BH4 in PAH(rmsd 2.3 A˚) The pterin ring was in close contact to Phe300 with the two ring planes tilted by 32 The carbonyl oxygen of BH4coordinated directly to the iron and the guanidinium moiety was fixed by an H-bond between the proton of N2 and the backbone oxygen of Gln310 (Fig 3) This conformation of BH4 coincided with the conformation of BH4in THpreviously computed by Alma˚s

et al usingDOCK4.0 (rmsd 2.2 ± 0.2 A˚) [15] However, it differed from the conformation of 7,8-BH2 in the binary complex identified by X-ray crystallography [13] In the latter study, the position of 7,8-BH2was rotated by 180 and characterized by a p-stacking interaction of the planar pterin moiety with THresidue Phe300, tilted by 10

We manually docked BH4into THto further investigate this alternative pterin position The energetically most favorable manual placement was in good agreement with the rotated position of 7,8-BH2cocrystallized in TH(rmsd 1.5 A˚) The pterin backbone was close to the aromatic ring

of Phe300, tilted by 45, and the carbonyl oxygen was again coordinated towards the iron atom The 2-hydroxyl group

of BH4 formed an H-bond to the carboxylate group of Glu332 The distance dBH

4 -Fewas 2.27 A˚, thus similar to 2.30 A˚ in the conformer obtained by automated docking (Fig 3) The lowest total energy in the group of manually docked conformations was 11.4 kcalÆmol)1compared with 1.5 kcalÆmol)1for the most favorable conformer in auto-mated docking (Fig 3) The difference mainly resulted from

Fig 2 Ligands docked into the crystal structure of PAH and TH.

Placements suggested by FLEXX were considered relevant and included

in further analyses if the indicated distances between the ligands and

the iron atom at the active site of the enzymes were within defined

limits.

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presumably artificial straining of the deeply buried BH4

-sidechain, caused by the minimization conditions applied

Hence both rotamers should be treated as equivalent The

equivalence of the two conformations was underscored by

the fact that the orientation of the pterin cosubstrate did not

affect the subsequent placement of amino acid substrates in

the ternary complexes with TH

The position of amino acid substrates in the complexes

with PAHÆBH4and THÆBH4

After docking the native substrate phenylalanine into

PAHÆBH4, 73 candidate positions with a distance dPhe-Fe

between the center of the aromatic ring and the THiron not

exceeding 6.5 A˚ were included in further analysis In the

conformation with the lowest total energy (13.5 kcalÆmol)1),

the distance between the phenylalanine ring center and the

iron atom was 4.96 A˚ The carboxylate moiety of

phenyl-alanine was anchored by H-bonds to PAH residue Arg270

Another H-bond was formed between the carboxylate

group of phenylalanine and the amine group of Thr278 The

ammonium group of phenylalanine formed an H-bond to

the carbonyl oxygen of Thr278 (Fig 4) Table 1

summar-izes relevant energy components for the interactions of

phenylalanine in the complex with PAHÆBH4 This

phenyl-alanine position provided by FLEXX and the calculated

hydrogen bonds to surrounding PAHresidues are in

agreement with X-ray crystallographic data of the phenyl-alanine analog 3-(2-thienyl)-L-alanine bound to PAH[22]

In another, energetically equivalent conformation the phenyl ring occupied the same position but the ammonium group now formed an H-bond with Ser349, while the salt bridge between the carboxylate group and Arg270 is maintained (not shown) This latter position matches the conformation of phenylalanine in the complex with PAHÆ7,8-BH2that was previously calculated after restraints from NMR spectroscopy [23] (rmsd 2.09 A˚ and 1.29 A˚, respectively)

Docking of tyrosine into PAHÆBH4produced a set of 179 conformations Out of these, 55 conformations fulfilled the distance criterion of dTyr-Febeing smaller than 6.5 A˚ Only eight conformations displayed the expected coordination of the tyrosine aromatic ring towards the iron atom However, the hydroxyl group of the aromatic ring was placed trans to His290 In contrast to the anchoring of the native substrate phenylalanine, the ammonium group of tyrosine formed an H-bond with the carboxyl moiety of Pro279 (Table 1) As shown in Fig 4, this position of tyrosine in PAHdiffered significantly from that of phenylalanine

FLEXXprovided 318 possible conformations of tyrosine in THÆBH4 A set of 150 conformations was regarded as relevant The position with the lowest total energy corres-ponded to the conformation of tyrosine in PAH(rmsd 1.12 A˚) In this position, the hydroxyl moiety of tyrosine

Fig 3 Placement of BH 4 in the catalytic site of PAH and TH Distance-energy diagrams obtained after docking BH 4 into the active sites of PAH(A) and TH(B) Total energies of candidate positions provided by automated FLEXX calculations are given as s, total energies of conformations obtained

by manual docking are shown as· (C) Superposition of BH 4 placements in the catalytic sites of PAH and TH Enzyme (PAH/TH) residues mentioned

in the text are displayed based on Protein Data Bank files 5pah and 2toh by using the program RASMOL (Sayle, R., Glaxo Wellcome Research and Development, Stevenage, Hertfordshire, UK) Protein structures are depicted as sticks with carbon atoms colored purple, nitrogen atoms blue and oxygen atoms red The iron at the center of the active side is colored orange Atoms coordinating directly to the iron atom are shown as balls The top-scoring conformation obtained by FLEXX for BH 4 in PAHis shown in red, for BH 4 in THaccording to the results of the automated docking in blue, and for BH 4 in THaccording to the manual docking in the X-ray crystallographic mode in green Hydrogens are omitted for clarity.

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was again oriented towards the catalytic iron atom of TH, with a distance of 2.16 A˚ between the hydroxyl oxygen and the iron In analogy to the position of tyrosine in PAHÆBH4, the hydroxyl group was placed trans to THresidue His336 The ammonium group of tyrosine formed an H-bond to Asp425 (Table 2) As pointed out below, this position is likely to hinder the access of the essential reaction cofactor dioxygen to the catalytic center In contrast to the placement

of tyrosine in PAHÆBH4however,FLEXXprovided a second conformation for tyrosine, which was almost identical to the position predicted for the native substrate phenylalanine in the complex with PAHÆBH4 This conformation was characterized by a salt bridge between the carboxylate group and the guanidinium moiety of Arg316 (Table 2) The ammonium group of tyrosine was surrounded by the backbone oxygens of THresidues Ser324 and Pro325 (Fig 4) The orientation of the pterin cosubstrate in the complex with THdid not have an effect on the position of tyrosine However, the orientation of BH4 in the second-ranking conformation of tyrosine in THÆBH4corresponded

to that of 7,8-BH2cocrystallized with TH[13] and in this orientation, N3 of BH4exhibited a stabilizing H-bond to the tyrosine hydroxyl group

The best placement of phenylalanine in THÆBH4 coincided with the second-ranking position of tyrosine, and it also corresponded to the position obtained by phenylalanine in PAHÆBH4(rmsd 1.65 A˚) Forty-eight out

of 319 calculated conformations were considered relevant here In the energetically most favorable position (total energy 1.3 kcalÆmol)1), the center of the aromatic ring was placed at a distance of 5.86 A˚ from the active-site iron, compared with 4.95 A˚ for tyrosine in THÆBH4 (Fig 4) The increase in the distance is caused by an additional iron-bound water molecule required for the docking of phenylalanine

Table 1 Intermolecular interaction energy contributions for the relevant amino acid placements in PAHÆBH 4 Energy values for van der Waals interactions (E vdW ), coulombic (electrostatic) interactions (E Coulomb ) and H-bonds of the ligand to neighboring protein residues are given in kcalÆmol)1.

PAHresidue

Phenylalanine in PAHÆBH 4 Tyrosine in PAHÆBH 4

Arg270 – 1.12 – 6.04 – 0.90 Leu248 – 0.75 – 0.21

Met276 – 0.74 1.16 Pro279 – 1.38 – 2.13 – 2.53 His277 – 1.45 – 1.10 Glu280 – 1.54 – 0.28

Thr278 – 2.65 – 4.41 – 3.00 Pro281 – 3.20 – 0.16

Glu280 – 1.31 – 1.36 Trp326 – 1.48 0.07

Pro281 – 1.73 – 0.09 Glu330 – 1.92 2.20

Asp282 – 0.37 0.57 Val379 – 1.28 – 0.39

His285 – 3.16 – 0.08

Glu330 – 1.08 – 1.80 Iron atom – 17.32 – 15.86

Phe331 – 0.85 0.09 BH 4 – 2.78 – 1.62 – 2.69 Gly346 – 1.50 0.09

Ser349 – 1.85 1.08

Ser350 – 1.41 0.10

Val379 – 0.12 – 0.38

Iron atom – 0.04 2.90

Fig 4 Amino acid substrates docked into complexes of PAH or TH

with bound BH 4 Superimposed are the top-scoring confomations of

phenylalanine in PAH(light green) and tyrosine in PAH(red) The

tyrosine conformation in THwith the lowest total energy is shown in

darker green; the second-ranking tyrosine conformation (blue)

cor-responds closely to the position of phenylalanine in PAH The

place-ment of phenylalanine in THis given in light green BH 4 in the

corresponding complexes is shown in the same color as the amino acid

substrate.

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Differences in the binding ofL-DOPA and DA

to the active site iron of PAH and TH

In agreement with previous results from X-ray

crystallo-graphy [17], a common mode of bidentate binding was

found when the catecholamine end productsL-DOPA and

DA were docked into PAH The two hydroxyl groups of

the catechol moiety formed a tight chelate complex with

the iron atom at the center of the active site.FLEXXyielded

189 conformations ofL-DOPA and 213 conformations of

DA in 5pah; 32 candidate positions forL-DOPA and 55

positions for DA were within a distance of 5.0 A˚ Nine

independent predictions forL-DOPA converged to the same

local minimum, which was characterized by an H-bond

between the amine group ofL-DOPA and the backbone

oxygen of PAHresidue Leu249, and a second H-bond

between the L-DOPA carboxyl moiety and the Leu249 nitrogen (Fig 5) The next favorable conformation was rotated by 180 around an imaginary axis passing between the two hydroxyl groups of the catechol moiety (Fig 5) The difference of 5.5 kcalÆmol)1in the total energy of the two orientations presumably represents an overestimate resulting from energy minimization in the absence of solvent molecules For DA, the second favorable conformation was also rotated by 180 Here, the difference between the two rotamers was 0.3 kcalÆmol)1, thus negligible Apparently, in PAHtwo equivalent positions exist forL-DOPA and DA, with the plane of the catechol ring rotated 180

The docking of DA into THyielded 216 relevant conformations DA bound directly to the active site iron (Fig 5) The amine end freely stuck out of the active site crevice, analogous to the placement of DA in PAH(rmsd

Table 2 Intermolecular interaction energies for the placement of tyrosine or phenylalanine in the complex of THÆBH 4 Energy contributions from van der Waals interactions (E vdW ), coulombic (electrostatic) interactions (E Coulomb ) and H-bonds between ligands and neighboring protein residues are shown Values are expressed in kcalÆmol)1.

Tyrosine in THÆBH 4

(unproductive position)

Tyrosine in THÆBH 4

(productive position)

Phenylalanine

in THÆBH 4

THresidue E vdW E Coulomb H-bonds TH residue E vdW E Coulomb H-bonds TH residue E vdW E Coulomb H-bonds Leu294 – 2.57 – 0.23 Arg316 – 1.06 – 4.78 Arg316 – 0.34 – 10.02 – 0.68 Pro325 – 1.52 – 0.16 Met322 – 0.36 0.68 Met322 – 0.14 0.22

Glu326 – 1.53 – 0.54 His323 – 2.19 – 1.85 His323 – 0.57 – 0.71

Pro327 – 2.91 – 0.03 Ser324 – 2.51 – 4.81 – 4.90 Ser324 – 1.57 – 3.88 – 3.31 His331 – 0.72 0.17 Pro325 – 1.88 – 1.44 Pro325 – 1.01 – 1.40

Trp372 – 1.53 0.04 Glu326 – 1.31 – 0.74 Glu326 – 1.52 – 0.08

Glu376 – 1.27 1.85 Pro327 – 1.85 – 0.24 Pro327 – 2.45 – 0.48

Asp425 – 0.40 – 13.12 – 1.03 Asp328 – 0.37 1.33 Asp328 – 0.49 3.68

His331 – 2.87 0.44 His331 – 2.97 – 0.75 Iron atom – 15.62 – 12.89 Glu376 – 1.62 0.39 Glu376 – 1.64 – 0.57

BH 4 – 2.95 1.00 Phe377 – 1.10 0.12 Phe377 – 1.11 0.10

Gly392 – 1.27 0.14 Gly392 – 1.16 0.16 Ser395 – 1.32 0.73 Ser395 – 2.38 1.00 Ser396 – 1.33 )1.04 Ser396 – 0.86 – 0.37 Asp425 – 0.19 )3.90 Asp425 – 0.33 – 3.17 Iron atom – 2.49 )4.26 Iron atom – 0.05 – 0.20

Fig 5 Binding of catecholamine end products at the catalytic site (A) High-scoring conformations of the catecholamines L -DOPA (blue, darker green) and DA (red, light green) in the catalytic site of PAH (B) High-scoring positions of L - DOPA (red) and DA (blue, green) docked into the catalytic site of TH.

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2.15 A˚) Like in PAH, two conformations of DA in TH,

rotated 180 around their iron-catecholamine axis,

possessed similar energy levels (2.3 kcalÆmol)1) Due to the

different rotamer of the iron-fixing Glu376 in TH, the

oxygen atom trans to His331 was slightly pushed aside

(0.68 A˚)

In contrast to the position ofL-DOPA or DA in PAH

and DA in TH, only one predicted placement ofL-DOPA in

THwas compatible with a bidentate binding mode (Fig 5)

However, the total energy of this conformation was

8.5 kcalÆmol)1 This is about 6.0 kcalÆmol)1 higher than

the total energy of the most likely, monodentate

conforma-tion among the 33 placements ofL-DOPA with a distance

between the catechol moiety and the iron atom of less than

5.0 A˚ Bidentate binding ofL-DOPA to the active site iron

was prevented by electrostatic forces: theL-DOPA

carb-oxylate group was repelled by the negatively charged TH

residue Asp425 In PAH, the residue corresponding to TH

Asp425 is a neutral Val379 so that the charged carboxylate

group of L-DOPA does not interfere with the tight,

bidentate binding of the catechol moiety to the active site

iron

In the catalytic domains of both amino acid hydroxylases,

the positions of L-DOPA and DA overlapped with the

binding site of BH4 This was true for both orientations of

the pterin cosubstrate in TH Consequently, based on the

results from our molecular docking experiments, it can be

predicted that the two catecholamines compete with BH4

for binding to the active site OnceL-DOPA or DA have

formed a chelate complex with the catalytic iron, enzyme

function must be significantly impaired due to the restricted

access of the essential cosubstrate BH4

Discussion

The aim of the present study was to model critical steps

during substrate binding, catalysis and feedback inhibition

of PAHand THby molecular docking The computational

approach allowed first, the creation of binary complexes of

the natural pterin cosubstrate BH4and the catalytic domain

of the enzymes, followed by the docking of amino acid

substrates We thereby mimicked the highly ordered

sequence of substrate binding in TH[6] that was recently

also proposed for PAH[22]

Molecular docking of BH4into the catalytic domain of

PAHresulted in a conformation corresponding to the

position and orientation of 7,8-BH2 in PAHdetermined

by NMR spectroscopy [23] and X-ray crystallography

[14] The distance between the C4a-Atom of BH4and the

iron was 5.97 A˚, thus closer to the value of 6.06 A˚ in the

crystal structure [14] than to the distance of 4.3 A˚

measured by NMR spectroscopy [23] Exactly the same

distance was found for BH4in the recent crystallographic

study of Andersen et al [22] Three H-bonds fixed the

cosubstrate to the protein The N3-bound proton was at

3.71 A˚ from the carboxylate-group of Glu286, so that

additional water-mediated H-bonds might anchor the

guanidinium moiety in the binding pocket [22] The BH4

sidechain made hydrophobic contacts to Ala322 and

Tyr325, two PAHresidues that were recently associated

with mutations in hyperphenylalaninemia or

phenol-ketonuria, respectively [34,35]

The best placement of BH4 in THin our experiments differed from the reported X-ray crystallographic structure

of 7,8-BH2 bound to TH[13] by a 180 rotation of BH4 around its C4a–C8a bond The natural pterin cosubstrate was anchored by two H-bonds and several hydrophobic interactions, which included p-stacking with Phe300 The distance between the metal atom of THand the pterin carbon C4a that is hydroxylated during the enzymatic reaction, was 4.2 A˚, well below 5.6 A˚ as measured in the X-ray crystallography study [13] On the contrary, the conformer calculated byFLEXXwas similar to the orienta-tion of cosubstrate analogs including 7,8-BH2bound to a recombinant, cobalt(II)-substituted human THisoform 1, examined by proton NMR spectroscopy [36] In this study, the distance between C4a of the pterin analog and the iron atom has been measured as 3.7 A˚ Our coordinates of the pterin position are also in agreement with a recent study using the programDOCK4.0 [37] to model the conformation

of BH4and a series of pterin analogs placed into the crystal structure of the THcatalytic domain [15] On the other hand, equivalent energy scores were obtained when BH4 was manually docked into THaccording to the orientation determined by X-ray crystallography [13] Consequently, our results support the conception that in fact two alternative orientations of the pterin cosubstrate exist within the binding site of TH[13–15] The two conformers apparently possess a similar total energy but seem to be differentially favored depending on the experimental con-ditions

Almost identical positions were obtained for phenylala-nine docked into PAHÆBH4or THÆBH4and for the second-ranking conformation of tyrosine docked into THÆBH4, which probably represents the productive position In this position, the carboxylate moiety of the amino acids was anchored by Arg270 in PAHor Arg316 in TH, respectively The pterin orientation in THdid not have a major effect on the position of the amino acid substrate However, a stabilizing hydrogen bond was formed between the tyrosine hydroxyl moiety at position C4 and BH4in the complex with THwhen the pterin cosubstrate was oriented following the crystallographic coordinates of 7,8-BH2 in TH[13] Site-directed mutagenesis of recombinant rat THhas previously demonstrated the critical significance of the salt bridge formed between the carboxylate group of the amino acid substrate and the guanidinium moiety of Arg316 A replacement of Arg316 with lysine was associated with an increase of KTyrby a factor of at least 400 compared with the wild type [20] As Arg316 forms another buried salt bridge to Asp328, replacing Asp328 with serine might render the guanidinium group of Arg316 more mobile As a result, binding of tyrosine to the catalytic site would become less stable, explaining the increase of KTyrby a factor of 60 in the mutant enzyme [20] This substrate position calculated by FLEXXis in agreement with a recent proton NMR spectro-scopic study of a complex consisting of dimeric human PAH (residues Gly103 to Gln428), 7,8-BH2 and phenylalanine [23] As stated in the latter study, the distance between the hydroxylation site of phenylalanine, the C4 carbon atom, and the catalytic iron is 4.34 A˚ [23] This is in good fit with 4.62 A˚ determined byFLEXX for the common position of phenylalanine in the complex with PAHor TH The distance appears optimal for accepting an iron bound oxygen

Trang 8

The energetically most favorable placement of tyrosine in

PAHÆBH4 and surprisingly, also in THÆBH4differed

sub-stantially from this common position of the amino acid

substrates Here, the hydroxyl group of tyrosine was

coordinated towards the active-site iron as expected, but

tyrosine formed a hydrogen bond between its ammonium

group and Pro279 in PAHor Asp425 in TH Our data

suggest that in TH, electrostatic attraction of the tyrosine

ammonium moiety by the negatively charged Asp425

(distance 3.4 A˚) and the formation of an H-bond counteract

the repulsion of the tyrosine carboxylate moiety by the same

protein residue (distance 5.3 A˚) Anchored in this position,

tyrosine interferes with the hydroxylation of BH4at carbon

C4a, which is required for catalysis The orientation of BH4

in PAHand in THimplies that dioxygen must be bound

transto His290 or His336, respectively, in order to obtain

access to the pterin C4a The only alternative position of

dioxygen would be trans to Glu330 in PAHor Glu376 in

TH However, the distance between dioxygen in this

position and the pterin C4a would be approximately 5 A˚,

hence incompatible with hydroxylation In addition, the

coordination of the aromatic ring of tyrosine gives it an

unfavorable position for accepting an electrophile Daubner

et al [21] have demonstrated by combined mutations of

PAHthat the replacement with aspartate of residue Val379,

which corresponds to THresidue Asp425, provides only

very low rates ofL-DOPA formation compared with TH

On the other hand, according to the experimentally

established sequence of substrate binding in TH[6], the

binding of dioxygen prior to the amino acid will promote

the placement of tyrosine in the second-ranking, but

productive position

While the unproductive orientation of tyrosine to the

catalytic domain of PAHsufficiently explains the specificity

of this enzyme for its native substrate phenylalanine,

additional factors outside the catalytic domain may be

relevant, too It has been shown that the substrate specificity

of PAHand THis enhanced though not determined by

mechanisms involving the N-terminal regulatory domain

[19] Our models were restricted to the catalytical domains

of PAHand THso that regulatory changes in the

N-terminal regions were not investigated It is conceivable

that phenylalanine exerts an allosteric effect on PAHafter

binding to the regulatory domain [33] The assumption of a

fixed active-site crevice structure precludes the observation

of conformational alterations upon phenylalanine binding

as recently described by Andersen et al [22] In this study,

the placement of tyrosine in PAHwas modeled after

crystallographic coordinates of the phenylalanine analog

3-(2-thienyl)-L-alanine bound to BH4ÆPAH Preserving in

their model both the position of the main chain and the

orientation of the ring structure, the authors concluded that

tyrosine is not accepted by PAHas amino acid substrate

because its hydroxyl oxygen is sterically hindered by the side

chain of Trp326 [22] The sterical interference of tyrosine in

this primary substrate position will certainly be important

for its release from the active site as product after

phenylalanine hydroxylation According to the present

results, however, the preconditions of this model appear

too rigid if one considers tyrosine as an independent ligand

or possible alternative substrate of PAH In this case,

the most probable position of tyrosine in PAH, defined by

the total energy, differs essentially from the position of the native substrate phenylalanine Whether binding of tyrosine

in this position triggers a large change in the protein structure as shown after binding of 3-(2-thienyl)-L-alanine [22] needs to be investigated

Feedback inhibition by catecholamine end products is a major regulatory factor both for PAHand TH Molecular docking of L-DOPA or DA into the crystal structure of either amino acid hydroxylase provided a plausible and energetically favorable conformation of the complex with direct binding of the catecholamine inhibitors to the active-site iron Bidentate binding of the THiron by the two hydroxyl groups of the DA catechol moiety has been suggested based on studies using resonance Raman spectro-scopy [38], or a combination of electron paramagnetic resonance (EPR), extended X-ray absorption fine structure (EXAFS) and Mo¨ssbauer spectroscopy [16] This binding mode was later demonstrated by X-ray crystallography in a binary complex of truncated PAHwith bound catechol-aminesL-DOPA, DA, noradrenaline and adrenaline [17] The position of the amine group of the catecholamine inhibitors is less well defined According to our results, the amine groups ofL-DOPA and DA freely stick out of the active-site pocket in both THand PAH Two distinct conformers ofL-DOPA and DA in the complex with PAH were assigned comparably favorable energy scores The conformers differed by 180 rotation around an imaginary iron-catecholamine axis that runs between the two hydroxyl groups of the catechol moiety In agreement with a previous X-ray crystallographic investigation of binary PAHÆcate-cholamine complexes [17], neither of the two conformers was preferred

We found the same ambiguous binding pattern for DA in

TH, but not forL-DOPA Instead, the predicted position of

L-DOPA in the bidentate binding mode was assigned a high energy This is attributable to the electrostatic repulsion of its negatively charged carboxylate group by THresidue Asp425, whereas in PAH, the corresponding residue represents neutral Val379 A monodentate, therefore less tight and also less stable binding ofL-DOPA to the catalytic iron was predicted by FLEXX Consequently, direct inhibi-tion of THby its native product L-DOPA would be impeded compared with DA In vitro experiments have shown that concentrations of L-DOPA between 10- and 15-fold higher than DA are necessary to inhibit by 50% recombinant human THisoforms 1 and 2 [39] Our findings suggest that in TH, electrostatic forces play a key role in hindering an immediate interference of the reaction product with the catalytic center The negative charge of the corresponding THresidue Asp425 is a limiting factor for the access ofL-DOPA to the catalytic iron, thereby reducing product inhibition

As the binding sites of catecholamines and BH4overlap

in both amino acid hydroxylases, they compete with each other for obtaining access to the catalytic site Moreover, bidentate binding of catecholamines to the catalytic iron(II) causes its oxidation to the ferric form Stoichiometric amounts of DA rapidly induce iron oxidation and enzyme inactivation [40] Due to the stability of the generated complex, catecholamines turn into almost irreversible inhibitors [3,8] Considering that catecholamines are redu-cing agents, oxidation of the catalytic iron provoked by the

Trang 9

binding of these inhibitors must surprise We hypothesize

that after binding to the iron atom, catecholamines activate

dioxygen in analogy to the activation of dioxygen by BH4

during catalysis According to our hypothesis, a highly

reactive iron-oxo intermediate would form together with the

generation of DA quinone and a hydroxyl anion (Fig 6)

As the remaining iron-bound oxygen atom is now

neigh-boring solvent water molecules instead of an electron-rich

nucleophile such as the aromatic ring in tyrosine or

phenylalanine, the intermediate is likely to decompose into

oxidized iron and a highly reactive hydroxyl radical (Fig 6)

The generation of reactive oxygen species during in vitro

tyrosine hydroxylation has been reported previously,

although it was attributed to partial uncoupling of BH4

oxidation during catalysis [41] In our model, the generation

of reactive oxygen species depends on the stoichiometric

equilibrium of the aromatic amino acid hydroxylase, the

cosubstrate BH4 and catecholamine end products A

clinically important shift in this equilibrium may occur in

Parkinson’s disease, as patients are systemically treated with

L-DOPA, which is intracerebrally decarboxylized to DA

Post mortem investigations of parkinsonian brains and

animal studies have shown that degenerating dopaminergic

neurons in the substantia nigra are specifically vulnerable to

reactive oxygen species due to a reduction in their

antioxi-dative defense systems such as glutathion [42] As an

unwanted side-effect, high doses of -DOPA may add to the

oxidative stress by tipping the balance towards THinhibi-tion and iron oxidaTHinhibi-tion

Acknowledgment

The authors wish to thank Marcus Gastreich, Jannis Apostolakis, Joachim Selbig and Volker Schu¨nemann for constructive discussions and helpful comments on the manuscript This research was supported

in part by the Faculty of Medicine of the Medical University of Lu¨beck (MUL J031).

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