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The access of the substrate to the active centre cavity through a nonpolar channel that contains a narrow constriction harbouring a cysteine residue C435 was probed by labelling experime

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Thiol-modifying inhibitors for understanding squalene cyclase function

Paola Milla1, Alexander Lenhart2, Giorgio Grosa3, Franca Viola1, Wilhelm A Weihofen2, Georg E Schulz2 and Gianni Balliano1

1 Universita` degli Studi di Torino, Dipartimento di Scienza e Tecnologia del Farmaco, Torino, Italy; 2 Universita¨t Freiburg,

Institut fu¨r Organische Chemie und Biochemie, Freiburg, Germany; 3 Universita` degli Studi del Piemonte Orientale A Avogadro, Dipartimento di Scienze Chimiche, Alimentari, Farmaceutiche e Farmacologiche, Novara, Italy

The function of squalene-hopene cyclase from

Alicycloba-cillus acidocaldariuswas studied by labelling critical cysteine

residues of the enzyme, either native or inserted by

site-directed mutagenesis, with different thiol-reacting molecules

The access of the substrate to the active centre cavity through

a nonpolar channel that contains a narrow constriction

harbouring a cysteine residue (C435) was probed by labelling

experiments on both a C435S mutant, lacking C435 of the

channel constriction, and a C25S/C50S/C455S/C537S

mu-tant, bearing C435 as the only cysteine residue Labelling

experiments with tritiated

3-carboxy-4-nitrophenyl-dithio-1,1¢,2-trisnorsqualene (CNDT-squalene) showed that the

cysteine residue at the channel constriction was covalently

modified by the squalene-like inhibitor Time-dependent

inactivation of the C25S/C50S/C455S/C537S mutant by a

number of squalene analogues and other agents with

thiol-modifying activity suggested that thiol-modifying C435 caused the

obstruction of the channel constriction thus blocking access

of the substrate to the active site The tryptic fragment comprising C435 of the quadruple mutant labelled with the most effective inhibitor had the expected altered molecular mass, as determined by LC-ESI-MS measurements The arrangement of the substrate in the active site cavity was studied by using thiol reagents as probes in labelling experiments with the double mutant D376C/C435S in which D376, supposedly the substrate-protonating residue, was substituted by cysteine The inhibitory effect was evaluated

in terms of the reduced ability to cyclize oxidosqualene, as the mutant is unable to catalyse the reaction of squalene to hopene Among the inhibitors tested, the substrate analogue squalene-maleimide proved to be a very effective time-dependent inhibitor

Keywords: Alicyclobacillus acidocaldarius; membrane protein; site-directed mutagenesis; squalene cyclase; thiol reagents

Oxidosqualene cyclases (OSCs) and squalene-hopene

cyclases (SHCs) are key enzymes in triterpenoid biosynthesis:

they transform acyclic isoprenoid precursors into tetra- and

pentacyclic compounds [1] OSCs can be considered

taxonomic markers, as they catalyse the conversion of

2,3-oxidosqualene into lanosterol in nonphotosynthetic

organ-isms (fungi and mammals), and into cycloartenol and other

tetra- and pentacyclic triterpenes in plants [2] In

prokary-otes, SHCs convert squalene into hopene or diplopterol

(Fig 1), pentacyclic triterpene precursors of hopanoids These compounds are thought to have functions similar to those of sterols in eukaryotic membranes [3]

An important contribution to the understanding of the catalytic mechanisms controlled by OSCs and SHCs came from the crystal structure of SHC from Alicyclobacillus acidocaldarious[4,5] X-ray analysis revealed a membrane protein with membrane-binding characteristics similar to those of two prostaglandin-H2 synthase isoenzymes [6,7] These membrane proteins are called monotopic as they are shaped so as to submerge from one side of the membrane into the nonpolar part of the phospholipid bilayer without protruding through it [8] The enzyme has a hydrophobic plateau plunging into the lipophilic centre of the membrane

A nonpolar channel connects the plateau and the active centre through a narrow constriction formed by four amino-acid residues, which appear to act as a gate that permits substrate passage (Fig 2) The cavity hosting the active site is lined by nonpolar residues, but has a highly polar patch at the top It seems to be shaped so as to bind the substrate in a specific product-like conformation, to trigger cyclization by protonating a terminal double bond,

to assist ring-closures by stabilizing the cationic intermedi-ates and, finally, to deprotonate the hopanyl cation to form hopene or, in a side reaction, to hydroxylate the cation to form hopan-22-ol (diplopterol)

We report here a new approach for studying the access of the substrate to the active site cavity of A acidocaldarius SHC (E.C 5.4.99.x) and its arrangement in it To this aim,

Correspondence to G Balliano, Dipartimento di Scienza e Tecnologia

del Farmaco, Via P Giuria 9, I-10125 Torino, Italy.

Fax: +39 011 6707695, Tel.: +39 011 6707698,

E-mail: gianni.balliano@unito.it

Abbreviations: OSC, oxidosqualene cyclase; SHC, squalene-hopene

cyclase; CNDT-squalene, 3-carboxy-4-nitrophenyl-dithio-1,1¢,

2-trisnorsqualene; U14266A, (U14),

3b-(2-dimethylaminoethoxy)-androst-5-en-17-one; CPTO, 2-(4-chlorophenyl)-D2

-thiazoline-1-oxide; DTS, (dimeric thiolsulfinate), 2(4-chlorobenzamido)

ethane-thiosulfinic acid S-2(4-chlorobenzamido) ethyl ester; NaB 3 H 4 , sodium

borotritiure (Ph) 3 P, triphenylphosphine,

Enzymes: oxidosqualene cyclase (EC 5.4.99.7); squalene-hopene

cyclase (EC 5.4.99.x).

Note: P Milla and A Lenhart contributed equally to this work.

Note: a web site is available at

http://hal9000.cisi.unito.it/wf/DIPARTIMEN/Scienza_e_/index.htm

(Received 1 November 2001, revised 18 February 2002, accepted 25

February 2002)

Trang 2

critically located Cys residues, either present in native

protein or inserted by site-directed mutagenesis, were

labelled with different thiol-reacting molecules, designed

and synthesized in our laboratories

M A T E R I A L S A N D M E T H O D S

NMR and MS of chemical products

1H-NMR spectra were recorded on a Jeol EX-400 or Jeol

GX-270, with SiMe4 as internal standard Mass spectra

were obtained on a VG Analytical 7070 EQ-HF

spectro-meter by electron impact ionization IR and UV spectra

were recorded, respectively, on Perkin-Elmer 781 and

Beckman DU 70 spectrophotometers

Chemicals

Light petroleum refers to the fractions of bp 40–60C

Tetrahydrofuran was distilled under sodium benzophenone

ketyl Silica gel was 70–230 mesh Squalene was from

Merck, polyoxyethylene 9 lauryl ether (polidocanol) was

from Sigma-Aldrich, Italy), 2,3-oxidosqualene was prepared

as described in [10] 3-Carboxy-4-nitrophenyl-dithio-1,1¢,2-trisnorsqualene (CNDT-squalene) (1), dodecyl- (3) and squalene-maleimide (2) were synthetized as described else-where [11] U14266A (U14; 3b-(2-dimethylaminoethoxy)-androst-5-en-17-one) [12] was provided by Upjohn Company 2-(4-chlorophenyl)-D2-thiazoline was synthetized

as reported previously [13] m-chloroperbenzoic acid, cystamine dihydrochloride, 4-chlorobenzoyl chloride and triethylamine were purchased from Sigma-Aldrich

2-(4-Chlorophenyl)-D2-thiazoline-1-oxide (CPTO) (4)

To an ice-cold and well stirred solution of 2-(4-chlorophe-nyl)-D2-thiazoline (2 g, 0.0101 mol) in CH2Cl2 (20 mL), m-chloroperbenzoic acid (2.05 g, 0.0101 mol) dissolved in

CH2Cl2(40 mL) was slowly added The mixture was stirred for 3 h on ice while a precipitate appeared CHCl3(60 mL) was then added and the solution was washed with 5% NaHCO3(2· 120 mL) and saturated brine (40 ng NaCl in

100 mL H2O; 1· 100 mL) The organic phase was dried over anhydrous sodium sulfate and evaporated in vacuo The crude product was purified by flash-chromatography using CHCl3as eluant to give 1.36 g CPTO (63% yield) ESI-MS m/z: 213 ( M+, 11), 195 (100), 185 (8), 137 (43);1 H-NMR (CDCl3) d: 3.14 ( m, 1H, 5-Ha), 3.36 (m, 1H, 5-Hb), 4.68 (m, 1H, 4-Ha), 4.91 (m, 1H, 4-Hb), 7.49 (d, 2H, aromatic protons), 8.04 (d, 2H, aromatic protons); IR (KBr)

mmax: 3375, 3040, 2980, 2920, 1612, 1590, 1485, 1400Æcm)1;

UV (CH3OH) kmax: 203, 260

N,N¢-(Dithiodi-2,1-ethanediyl)bis 4-chlorobenzamide To

an ice-cold and well stirred suspension of cystamine dihydrochloride (0.77 g, 0.00343 mol) and triethylamine (12 mL, great excess) in CHCl3(10 mL), 4-chlorobenzoyl chloride (1.5 g, 0.00857 mol) dissolved in chloroform (4 mL) was slowly added under argon atmosphere The mixture was stirred overnight at room temperature CHCl3 (10 mL) was then added and the mixture was extracted with chloroform (2· 50 mL) and chloroform/ethyl acetate 50/

50 (1· 50 mL) The pooled organic phases were washed with 5% NaHCO3 (2· 50 mL) and saturated brine (1· 50 mL) After anhydrification with anhydrous sodium sulfate the solvent was evaporated under reduced pressure The crude product was purified by column chromatography

on silica with chloroform as eluant to give 1.05 g N,N¢-(dithiodi-2,1-ethanediyl)bis 4-chlorobenzamide (68% yield) ESI-MS m/z: 428 (M+, < 1), 215 (33), 182 (60), 139 (100),

111 (39);1H-NMR (CDCl3/CD3OD) d: 2.81 ( t, 4H, -CH2 -S), 3.57 (t, 4H, -CH2-N), 7.23 (d, 4H, aromatic protons), 7.61 (d, 4H, aromatic protons); IR (KBr) mmax: 3302, 3236,

1638, 1628, 1597, 1541, 1489Æcm)1; UV ( CH3OH) kmax: 204, 235

2(4-Chlorobenzamido) ethanethiosulfinic acid S-2(4-chlorobenzamido) ethyl ester (DTS ¼ dimeric thiolsulf-inate) (5) A solution of N,N¢-(dithiodi-2,1-ethanediyl)bis 4-chlorobenzamide (400 mg, 0.932 mmol) dissolved in

CH2Cl2(25 mL) was stirred while m-chloroperbenzoic acid (85% purity, 147 mg, 0.932 mmol) was slowly added; it was then allowed to react for a further 3 h with continuous stirring CH2Cl2(20 mL) was then added and the mixture was washed with 5% NaHCO3(2· 30 mL) and saturated brine (1· 50 mL) After anhydrification with anhydrous

Fig 1 Reactions catalysed by (A) prokaryotic SHCand (B) eukaryotic

OSC.

Fig 2 Surface representation of SHCsliced in the middle of the

molecule with nonpolar (yellow), positively charged (blue) and negatively

charged (red) areas The large internal cavity is connected with the

hydrophobic plateau on the right by a nonpolar channel A detergent

molecule LDAO that has been found in a crystal structure of SHC [4]

is shown as ball-and-stick model The catalytic acid D376 and the

residues forming the channel constriction are indicated (V174 lying in

front of C435 was omitted for clarity) The figure was produced with

GRASP [9].

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sodium sulfate the solvent was evaporated under reduced

pressure The crude product was purified by column

chromatography on silica with CHCl3 and then CHCl3/

CH3OH 98 : 2 to give DTS (5) (220 mg, 53% yield)

ESI-MS m/z: 429 (M ± 16, 54), 214 (29), 182 (44), 156 (35), 139

(100), 111 (54);1H-NMR (CD3OD) d: 3.57 ( m, 4H, -CH2

-SO and -CH2-S), 3.82–3.93 (m, 4H, -CH2-N), 7.53 (m, 4H,

aromatic protons), 7.88 (m, 4H, aromatic protons); IR

(KBr) mmax: 3680, 3412, 2920, 1664, 1597, 1541, 1480Æcm)1;

UV (CH3OH) kmax: 203, 236

Radiochemicals

[2-14C]-mevalonate (50 mCiÆmmol)1) was from NEN [14

C]-squalene and [14C]-3S-2,3-oxidosqualene were prepared by

incubating an S10supernatant (25 mg proteins) of a pig liver

homogenate with 1 lCi [14C]-mevalonate in the presence of

the OSC inhibitor U14266A (U14) [12], essentially as

described by Popjak [14] The nonsaponifiable lipids were

separated by two-step TLC on silica gel plates (Merck)

(20· 20 cm, 0.5 mm layer) The plates were first developed

in light petroleum to a height of about 10 cm above the

origin After drying, the plates were developed to 15 cm

above the origin with n-hexane/ethyl acetate (90 : 10; v/v)

Radioactive areas corresponding to squalene and

2,3-oxido-squalene were scraped off and eluted with dichloromethane

The solvent was dried under N2 and [14C]-squalene and

[14C]-3S-2,3-oxidosqualene were dissolved in benzene The

radiochemical purity of products was evaluated by scanning

TLC plates with a System 2000 Imaging Scanner (Packard)

Radioactivity was measured by Liquid Scintillation

Count-ing (Beckman)

All of the radiolabelled compounds were compared

chromatographically with authentic radio-inert samples

Determination of the radioactive substances and isotope

counting were carried out as already described [15,16]

Radiolabelled CNDT-squalene (1) was synthesized via

the following steps (Fig 3): (i) synthesis of [1-3

H]trisnor-squalene alcohol; (ii) synthesis of [1-3H]trisnorsqualene

thioacetate; (iii) synthesis of [1-3H]trisnorsqualene thiol;

(iv) transformation of [1-3H]trisnorsqualene thiol into [3

H]-CNDT-squalene (1)

(i) [1-3H]Trisnorsqualene alcohol: [1-3H]-(4E,8E,12E, 16E)-4,8,13,17,21-pentamethyl-4,8,12,16,20-docosapentaen-1-ol Pure trisnorsqualene aldehyde, obtained as described

by Ceruti et al [17] (20.5 mg, 0.053 mmol) was dissolved in methanol (0.5 mL) and added to the NaB3H4-containing phial (total activity 25.0 mCi, specific activity 500 mCiÆ mmol)1, total amount 0.05 mmol) After 3 h, NaBH4 (excess, 6.0 mg, 0.159 mmol) was added to complete the reaction After an additional hour, the methanol was evaporated under nitrogen and the reaction mixture was dissolved in dichloromethane, transferred to a single necked flask, and evaporated to dryness under reduced pressure to give crude [1-3H]trisnorsqualene alcohol The product was purified, after dissolution with light petroleum, by column chromatography on silica gel with 100% light petroleum to remove impurities, then light petroleum/diethylether 90 : 10

to give 18 mg (0.046 mmol) of pure [1-3H]trisnorsqualene alcohol The radiochemical purity of the alcohol was determined by radiochromatogram with light petroleum/ diethylether 80 : 20 and then revealed with iodine vapour Total activity: 4.2 mCi; specific activity: 92 mCiÆmmol)1; chemical yield: 88%

(ii) [1-3H]Trisnorsqualene thioacetate: [1-3H]-(4E,8E, 12E,16E) S-[4,8,13,17,21-pentamethyl-4,8,12,16,20-docos-apentaenyl] thioacetate A solution of diisopropyl azodi-carboxylate (71.6 mg, 0.354 mmol) in 0.5 mL anhydrous tetrahydrofuran was added to a well-stirred solution of triphenylphosphine (92.5 mg, 0.350 mmol) in 3 mL anhy-drous tetrahydrofuran at 0C The mixture was stirred at

0C for 30 min and produced a white precipitate A solu-tion of [1-3H] trisnorsqualene alcohol (18 mg, 0.046 mmol) and thiolacetic acid (37.2 mg, 0.488 mmol) in 0.5 mL anhydrous tetrahydrofuran was added dropwise under nitrogen and the mixture stirred for 1 h at 0C and 1 h

at room temperature The mixture was evaporated under nitrogen and the crude product triturated in light petroleum; the suspension was purified by column chromatography on silica gel with 100% light petroleum to remove impurities, then light petroleum/diethylether 99.5 : 0.5 to give pure [1-3H] trisnorsqualene thioacetate (16.5 mg, 0.037 mmol) The radiochemical purity of the thioacetate was determined

by radiochromatogram with light petroleum/diethylether

98 : 2 and then revealed with iodine vapour Total activity: 3.6 mCi; specific activity: 92 mCi mmol)1; chemical yield: 80%

(iii) [1-3H]Trisnorsqualene thiol: [1-3H]-(4E,8E,12E,16E) 4,8,13,17,21-pentamethyl-4,8,12,16,20-docosapentaenyl 1-thiol [1-3H]trisnorsqualene thioacetate (16.5 mg, 0.037 mmol) was dissolved in anhydrous diethylether (2 mL) and added dropwise to a suspension of LiAlH4 (11.6 mg, 0.31 mmol) in anhydrous diethylether (5 mL) under nitrogen The mixture was stirred 25 min at room temperature then 25 min under reflux LiAlH4 excess was destroyed by the careful addition of 7 mL 1MHCl solution The ether layer was separated and the aqueous phase extracted with dichloromethane The combined organic phases were dried over sodium sulfate and the solvent evaporated under reduced pressure The crude product was used without purification for the following step

(iv) [1-3H]Trisnorsqualene nitrobenzoic acid (1): [1-3 H]-6-nitro-3-[(4E,8E,12E,16E)-4,8,13,17,21-pentamethyl-4,8,12, 16,20-docosapentaenyldisulfamyl] benzoic acid; 5,5¢-dithio-bis(2-nitrobenzoic acid) (41 mg, 0.103 mmol) was dissolved

Fig 3 Scheme for the synthesis of [1-3H] CNDT-squalene The asterisk

indicates position of 3 H-label: (i) NaB 3 H 4 (ii) (Ph) 3 P, CH 3 COSH,

diisopropyl azodicarboxylate; (iii) LiAlH 4 (iv)

5,5¢-dithiobis(2-nitro-benzoic acid).

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in ethanol (9 mL) To this solution [1-3H] trisnorsqualene

thiol dissolved in ethanol (10 mL) was added under

nitrogen The mixture was stirred overnight at room

temperature and then the solvent evaporated under reduced

pressure The resulting yellow oil was purified by column

chromatography on silica gel with

dichloromethane/meth-anol 92 : 8 as eluent to give [1-3H] trisnorsqualene

nitro-benzoic acid (1) (11.1 mg, 0.0185 mmol) The radiochemical

purity of the disulfide was determined by

radiochromato-gram with dichloromethane/methanol 85 : 15 and then

revealed with iodine vapour Total activity: 0.91 mCi;

specific activity: 92 mCiÆmmol)1; chemical yield: 50%

Expression and purification of recombinant SHC

Wild-type SHC was kindly provided by Prof K Poralla

(Universita¨t Tu¨bingen) [18]

For production of recombinant SHC, the overexpression

system described elsewhere [19] was used Mutants D376C/

C435S, C455S and C50S had been generated for structure

analysis [5] utilizing the phosphorothioate method

(Sculp-torTM, Amersham)

To generate the quadruple mutant, gene fragments

containing mutations C455S and C50S were introduced

into expression plasmid pKSHC1 using restriction sites

SacI/HindIII and EcoRI/ApaI, respectively Mutations

C25S and C537S were created with the megaprimer method

[20,21] The first round of PCR amplification was

per-formed with Pwo polymerase (Peqlab, Erlangen, Germany)

and primers MP-C25S and MP-ApaI or MP-C537S and

MP-HindIII, respectively The PCR products were purified

by agarose gel electrophoresis and gel extraction (QIAquick`

Gelextraction-Kit, Qiagen) and were used as megaprimers

in the second round of PCR with the additional primers

MP-EcoRI or MP-SacI Sequences of the synthetic

oligonucleotides (MWG, Ebersberg, Germany) were as

follows (with changes from the wild-type sequence

under-lined): Mp-C25S, 5¢-CTCCTCTCCAGCCAAAAGG-3¢;

ApaI, 5¢-GTACAGGGCCCACGTGCCG-3¢;

TG-3¢; MP-HindIII, 5¢-CAGCCAAGCTTGCATGCCTG

-3¢; MP-SacI, 5¢-CATGCAGAGCTCGAAC GGCG-3¢

The purified PCR products were digested with EcoRI/

ApaI and SacI/HindIII, respectively, purified by agarose gel

electrophoresis and gel extraction, and were ligated into the

vector fragments obtained in an analogous manner Ligation

products were transformed into Escherichia coli JM105 cells

according to standard protocols [22] Mutagenesis results

were validated by DNA sequencing (SeqLab, Go¨ttingen,

Germany) Expression and purification of the mutant SHC

was performed as described by Wendt et al [19]

Enzyme assay

Cyclization of squalene Purified SHC (3–5 lg) was

incubated at 55C for 30 min in 1 mL 0.1M Na citrate

buffer (pH 6.0) containing 1.5 mgÆmL)1 polidocanol and

10 lM [14C]squalene (3000 c.p.m.) The reaction was

stopped by adding 1 mL 10% KOH in MeOH, and the

nonsaponifiable lipids were extracted twice with 1 mL

petroleum ether The extract was chromatographed on silica

gel plates developed in petroleum ether The radioactivities

of squalene, hopene and diplopterol ( 15% of products formed) were evaluated by a System 2000 Imaging Scanner (Packard)

Cyclization of oxidosqualene Purified SHC (3–80 lg) was incubated at 55C for 30 min in 1 mL 0.1M Na citrate buffer (pH 6.0) containing 1.5 mgÆmL)1 polidocanol and

10 lM[14C]oxidosqualene (3000 c.p.m.) The reaction was stopped with KOH and the nonsaponifiable lipids were extracted as described for squalene The extract was chromatographed on silica gel plates developed in CH2Cl2 The radioactivities of chromatographic bands (oxidosqua-lene and hop-22(29)-en-3-ol) [23] were evaluated as des-cribed for squalene

Time-dependent inactivation SHC (0.12–3.2 mgÆmL)1) was preincubated at 55C in 0.1M

Na citrate buffer (pH 6.0) containing 1.5 mgÆmL)1 polido-canol and different concentrations of reagents After the preincubation period, the inhibitor concentration was de-creased by 40-fold dilution, and the squalene or oxidosqua-lene cyclizing activity was determined as described above

Labelling with radioactive CNDT-squalene (1) SHC wild-type and mutants (40 lg) were incubated at 55C for 1 h in 0.1M Na citrate buffer (pH 6.0) containing 1.5 mgÆmL)1polidocanol and 2 mM [3H]-CNDT-squalene (1) ( 10· 106d.p.m., 5.26· 1010d.p.m./mmol) The enzyme was precipitated with 5 vol cold acetone The precipitate was washed twice with cold acetone and resuspended in sample buffer for SDS/PAGE with or without 2-mercaptoethanol The samples were then analysed by 10% SDS/PAGE, the gel was stained, enhanced with 20% 2,5-diphenyloxazole in acetic acid, washed in water, dried and exposed to a Kodak X-OMAT XAR-5 film at)80 C for 7–10 days

Digestion and MS analysis of labelled protein For tryptic proteolysis, labelled protein (1 mg) dissolved in buffer-B (20 lL, 20 mM Tris/HCl, pH 8.0; 0.6% C8E4;

200 mMNaCl) was precipitated with 80 lL EtOH at 0C

to eliminate any detergent present Precipitated protein was resuspended in 50 lL buffer-D (10 mM N-ethyl-morpho-line-HOAc, pH 7.8, 2 mMCaCl2) and digested with 10 lg trypsin (Promega) at 37C and occasional agitation for 2 h Trypsin addition and incubation were repeated, the protease was heat inactivated (5 min at 98C) and fragments were analysed by LC-ESI-MS Ten lL digested SHC were applied onto a Phenomenex RP column (Jupiter 5 l C4300 A, 150 mm· 2.0 mm), the fragments were eluted in

a gradient 0–50% CH3CN in 0.1% formic acid and mapped

by ESI-MS (Finnigan TSQ7000, scanzone 200–2300 amu/z) Deconvolution and data analysis were performed with the programBIOWORKS8.2 (Finnigan)

R E S U L T S

Blocking substrate access to the active centre The idea of inhibiting the enzyme by blocking substrate access to the active centre stemmed from the observation

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that one of the four amino-acid residues present at the

constriction of the hypothetical access channel is a cysteine

(C435), an amino-acid residue that is easy to modify

(Fig 2) The possible inhibitory effect of labelling the C435

residue with a series of substrate analogues or other thiol

modifying agents ( Fig 4) was then studied As SHC

possesses five cysteine residues and no disulfide bridges,

labelling experiments were performed not only on the native

protein but also on two mutants obtained by site-directed

mutagenesis: C435S, lacking C435 at the channel

constric-tion, and the C25S/C50S/C455S/C537S-mutant (quadruple

mutant), bearing C435 as its only cysteine residue The

mutants were first characterized for their optimal

tempera-ture and kinetic parameters (Table 1) All of the mutants

showed the optimal temperature at 60C like wild-type

SHC (data not shown) The quadruple mutant proved to be

less active than either the wild-type or the single mutant, as

indicated by the values of kcatand kcat/KM

A radioactive thiol modifying squalene-analogue [(CNDT-squalene (1)] was first used to test the ability of a squalenoid molecule to reach the channel constriction Native SHC and quadruple mutant (40 lg protein) were incubated separately in 0.1M Na citrate buffer (pH 6) containing 1.5 mgÆmL)1polidocanol, for 60 min at 55C with 0.2 mM[1-3H]-CNDT-squalene (1) ( 10· 106 d.p.m., 5.26· 1010 d.p.m.Æmmol)1) SDS/PAGE of modified enzyme followed by fluorography were then used to verify labelling of the protein by the inhibitor An aliquot of incubated protein was treated with 2-mercaptoethanol followed by electrophoretic analysis to verify formation of disulfide bridges between thiol residues of the protein and the squalenoid radioactive moiety of the inhibitor

As shown by the results reported in Fig 5, both wild-type protein and mutant were covalently labelled by the radio-active inhibitor The unambiguous labelling of the quad-ruple mutant, bearing only C435, indicates that inhibitor has reached and modified the cysteine residue at the channel constriction Inactivation experiments carried out at con-centrations of inhibitors up to 0.5 mMshowed that CNDT-squalene (1) behaves as a poorly irreversible inhibitor of the quadruple mutant

Fig 4 Structures of synthesized inhibitors.

Table 1 Kinetic parameters for the wild-type and mutant SHCs with squalene or oxidosqualene as substrates The initial rates were measured at 55 C

as described in Material and methods The kinetic values were determined from double-reciprocal plots NA, not applicable.

Protein

Substrate: squalene Substrate: oxidosqualene

K M

(l M )

k cat

(min)1)

k cat /K M

(min)1l M )1 )

K M

(l M )

k cat

(min)1)

k cat /K M

(min)1l M )1 )

C25S/C50S/C455S/C537S 13.6 ± 5.4 0.39 ± 0.16 0.03 1.0 ± 0.5 0.042 ± 0.01 0.042

Fig 5 SDS/PAGE and fluorography of SHCwild-type and quadruple mutant incubated with [1- 3 H] CNDT-squalene (1) Coomassie stained SDS/PAGE (lanes 1 and 2) and fluorography (lanes 3–6) Samples without 2-mercaptoethanol treatment (lanes 3 and 5) and with 2-mercaptoethanol treatment (lanes 4 and 6) M, markers.

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The effect of obstructing the channel constriction bearing

C435 was then evaluated by treating the quadruple mutant,

having C435 as the only thiol residue, with other

thiol-modifying agents of different shapes and sizes (Fig 4)

Some of them [squalene-maleimide (2) and

dodecyl-malei-mide (3)] were designed to link a cysteine residue with a

maleimide ring bearing a flexible lipophilic chain, others

[CPTO (4) and DTS (5)] to modify the thiol residue with an

arm bearing the bulky and rigid chlorophenylketone group

at its ends The effect of the inhibitors on the quadruple

mutant was compared with that observed on the C435S

mutant, lacking only the cysteine residue of the channel

constriction (Table 2)

Inhibitors proved to have little effect on the mutant

lacking the cysteine at the channel constriction, whereas

they were all good inactivating agents for the mutant

bearing only the cysteine residue of the channel constriction

DTS (5) was the most effective inactivating agent of the

quadruple mutant, as indicated by t½inactivation values

(Table 2 and Fig 6) Covalent modification of C435 by

DTS (5) was confirmed by tryptic digestion and MS analysis

of the quadruple mutant treated with the inhibitor The

DTS-labelled tryptic peptide comprising C435 has a

theor-etical molecular mass of 6895.8 Da Deconvoluted mass

spectra (Fig 7B) indicated a molecular mass of 6893.0 Da

and refined data analysis a molecular mass of 6894.2 Da for

the expected peptide recorded by scans nos 1481–1486 The

corresponding peak with elution time 47.85 min was the most prominent peak of the chromatogram (Fig 7A) A difference between the theoretical and the experimental values of 1.6 Da can be tolerated due to the systematic error

of the mass spectrometer (0.01–0.05%) Even if an incom-plete tryptic digest of SHC with up to two missed cleavages

is taken into account, it can be ruled out that other peptides caused the observed MS signals, because potential tryptic peptides are residues 403–466 (one missed cleavage, 7042.6 Da instead of the observed value 6894.2 Da), the unlabelled peptide containing C435 (6682.2 Da) and resi-dues 274–332 (two missed cleavages, 6500.4 Da) Further-more, due to the high intensity of the chromatogram peak assigned to the labelled peptide it is unlikely that peptides originating from unspecific cleavage of the labelled SHC and having a molecular mass close to that of the labelled peptide contributed to the deconvolution peak Therefore the identification of the labelled peptide could be interpreted

as unambiguous

Binding of a squalene analogue inside the active centre Labelling a specific amino-acid residue at the active centre with a substrate analogue is a crucial step in studying the

Table 2 Inactivating effect t ½ of thiol-modifying inhibitors on

enzy-matic activity of mutant C435S and quadruple mutant C25S/C50S/

C455S/C537S with squalene as substrate Experimental conditions

were as described in Materials and methods Data are mean values

from three independent experiments with a mean deviation of ± 10%.

Inhibitor

Inhibitor concentration (l M )

t ½ (min)

C435S

C25S/C50S/

C455S/C537S Dodecyl-maleimide (3) 500 > 60 30

Squalene-maleimide (2) 200 > 60 45–60

Fig 6 Half-logarithmic plot of time-dependent inactivation of mutant

C25S/C50S/C455S/C537S by DTS (5) Data are shown for DTS (5)

concentrations of 100 l (r) and 20 l (j).

Fig 7 LC-ESI-MS results: RP-HPLC separation of tryptic digested mutant C25S/C50S/C455S/C537S labelled with DTS (5) Elution time [min] is denoted above the peaks (A) Deconvoluted spectra of ESI-MS scans nos 1481–1486 corresponding to the elution time 47.85 min (B).

Trang 7

complex interaction between substrate and enzyme This

approach was successfully adopted with yeast

oxidosqua-lene cyclase, which was irreversibly inhibited by

CNDT-squalene (1), a thiol-reacting CNDT-squalene-like molecule [24]

SHCs, unlike OSCs, bear no cysteine residues at the active

centre, as they lack the cysteine residue present in the

conserved active site motif DCTA of eukaryotic OSCs (in

prokaryotic cyclases the motif is DDTA) No other cysteine

residues appear at the active centre cavity of SHC The goal

of binding a squalene analogue inside the active site of SHC

covalently may thus be pursued by introducing a critical

cysteine residue into the active centre cavity by site-directed

mutagenesis, able to serve as a sticky point for squalene

analogues with thiol-modifying activity The D376C/C435S

mutant, already used in crystallization experiments of SHC

[5], seemed to fit the above purpose In this mutant, the

D376 at the reaction initiation site of the central cavity has

been replaced by a cysteine residue, and C435 at the channel

constriction has been replaced by serine The latter

substi-tution was required to allow thiol-reacting molecules to

move to their target located in the active site cavity, without

interacting with the cysteine residue at the channel

constric-tion

A series of thiol-reacting agents were tested as

time-dependent inhibitors of the D376C/C435S mutant The

SHC mutant C435S was used as control Mutant D376C/

C435S lost the ability to cyclize squalene due to the absence

of one of the two aspartate residues in the crucial DDTA

motif [25], but it still shared the ability to cyclize

oxido-squalene with wild-type SHC [23] and with the control

C435S mutant Therefore, the inhibitory properties of thiol

reagents were assayed towards the oxidosqualene cyclizing

activity First, enzymatic activity of the mutants with

oxidosqualene as a substrate, was characterized and

compared with wild-type enzyme Both the D376C/C435S

and the C435S mutants showed the same temperature

profile (data not shown) for oxidosqualene cyclizing

activ-ity, with maximum activity at 60C, coincident with the

optimal temperature for squalene cyclization by wild-type

SHC [3] Comparison of kinetic parameters showed that the

double mutant was less efficient in cyclizing oxidosqualene

than either the wild-type or the mutants bearing the native

DDTA motif (Table 1)

All thiol-reacting agents tested had a stronger inhibitory

effect on the D376C/C435S mutant, which was

time-dependent, than they did on the C435S mutant with intact

initiation site motif DDTA (Table 3) The reactive

sub-strate-analogue squalene-maleimide appeared to be the most effective inhibitor of the D376C/C435S mutant bearing a cysteine residue at the active site

D I S C U S S I O N

A series of thiol modifying agents were used as tools to elucidate some structural/functional features of squalene-hopene cyclase The study started from the observation that C435 of the enzyme, is located on the putative path of the substrate from the membrane interior to the active centre C435 is in fact located at a constriction formed by four amino-acid residues, which separates the large central cavity containing residues critical for catalysis from a lipophilic channel open towards the inner surface of the protein (Fig 2) This constriction appears to be sufficiently mobile

to act as a gate for substrate passage, due to the flexibility of

a loop bearing two of the four amino-acid residues as indicated by the higher crystallographic B-factors [5] The ability of the inhibitor CNDT-squalene (1) to modify C435 covalently provided the first evidence that a substrate analogue can move along the lipophilic channel and reach the enzyme’s putative gate-constriction, establishing that this is in fact the entrance to the active centre

Even stronger support for the position of the entrance gate came from the inactivating experiments with the C25S/ C50S/C455S/C537S mutant, which bears C435 as the only cysteine of the protein When this SHC-mutant was exposed

to thiol-modifying agents, especially to the inhibitor DTS (5), rapid time-dependent inhibition was observed (Fig 6) Such inhibition can be explained as a consequence of an obstruction of the channel constriction Other explanations, such as a direct influence of the inhibitor on the catalytic process, may be ruled out since C435 is not involved in the reaction mechanism as shown by the essentially unchanged activity of the C435S mutant compared to wild-type (Table 1) Moreover, when the inhibitors could in principle overcome the barrier of the channel constriction and act directly in the active site cavity, as in the case of the C435S mutant, poor inhibition effect was observed (Table 2) Interestingly, the inhibitors squalene- and dodecyl-malei-mide, which modify thiol residues with a group bearing a mobile and flexible chain, proved to be less active than CPTO (4) and DTS (5) The reason for the different effectiveness of the inhibitors could, of course, simply result from their different reactivity or, as in the case of DTS (5), from some enhancement effect due to the formation of reactive intermediates during the reaction between the intact inhibitor and thiol groups [26,27] Moreover, a difference depending on size and rigidness of groups modifying C435 may occur

The series of thiol-reacting agents used to study access of the substrate to the active site of SHC was also found to be a useful tool for studying the possibility of forming an enzyme–inhibitor complex with the inhibitor covalently bound inside the active centre cavity The mutant used for the study was the D376C/C435S mutant bearing a cysteine residue at the reaction initiation site in the central cavity and

a serine substituting the cysteine at the channel constriction This mutant is unable to cyclize squalene [25], but recognizes 2,3-oxidosqualene as a substrate, an ability shared with wild-type SHC and with mutants bearing at least one of the two aspartate residues of the conserved sequence DDTA

Table 3 Inactivating effect t ½ of thiol-modifying inhibitors on

enzy-matic activity of mutant C435S and mutant D376C/C435S with

oxidosqualene as substrate Experimental conditions were as described

in Materials and methods Data are mean values from three

inde-pendent experiments with a mean deviation of ± 10%.

Inhibitor

Inhibitor concentration (l M )

t ½ (min) C435S D376C/C435S Dodecyl-maleimide (3) 200 > 60 12

Squalene-maleimide (2) 200 > 60 1.5

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[28] Recently, the preference for oxidosqualene of such

mutants was confirmed with a SHC mutant bearing the

eukaryotic DCTAEA OSC-motif instead of the DDTAVV

SHC-motif [28] The exchange of the prokaryotic by the

eukaryotic motif was carried out in [23]

The strong time-dependent inactivation of inhibitors on

the D376C/C435S mutant, and the poor inhibition of the

C435S mutant, indicate that inactivation occurs at C376

Interestingly, squalene-maleimide (2) [11] which should have

a higher ability to deliver a reactive group to the

squalene-hosting cavity of the enzyme, proved to be the most

powerful inactivating agent It appears possible that, for the

first time, a covalent SHC–inhibitor complex has been

formed, in which a squalene analogue in a noncyclized form

is bound to the squalene-hosting cavity covalently These

results open the fascinating prospect of solving the structure

of a SHC with a complexed squalenoid molecule, and

determining in detail the interactions between residues at the

active site and the squalene skeleton in its not-yet cyclized

conformation

In summary, rationally designed mutants of SHC, C25S/

C50S/C455S/C537S (quadruple mutant) and D376C/

C435S, obtained by site-directed mutagenesis, have been

effectively inhibited by thiol-reacting molecules DTS (5) and

squalene-maleimide (2) in a time-dependent manner

Ex-perimental evidence suggests that DTS (5) inhibits the

quadruple mutant by obstructing the substrate access to the

active site, while squalene-maleimide (2) inactivates the

D376C/C435S mutant by irreversible occupation of the

active centre cavity These results, in particular those

relating to the D376C/C435S mutant, may be regarded as

the first step towards the goal of preparing stable covalent

complexes for structural analysis

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

This work was supported by the Ministero dell’Universita` e della

Ricerca Scientifica e Tecnologica (MURST), Italy (ex 60%), and by the

Deutsche Forschungsgemeinschaft under SFB-388 The authors thank

Prof K Poralla (Universita¨t Tu¨bingen) for providing wild-type SHC,

D Kessler and B Fu¨llgrabe for help with mutagenesis and C Warth

for ESI-MS measurements.

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