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Jaworski Department of Chemistry and Biochemistry, Miami University, Oxford, Ohio, USA We are interested in constructing a model for the substrate-binding site of fatty acid elongase-1 3

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Studies into factors contributing to substrate specificity

of membrane-bound 3-ketoacyl-CoA synthases

Brenda J Blacklock and Jan G Jaworski

Department of Chemistry and Biochemistry, Miami University, Oxford, Ohio, USA

We are interested in constructing a model for the

substrate-binding site of fatty acid elongase-1 3-ketoacyl CoA synthase

(FAE1 KCS),the enzyme responsible for production of very

long chain fatty acids of plant seed oils Arabidopsis thaliana

and Brassica napus FAE1 KCS enzymes are highly

homo-logous but the seed oil content of these plants suggests that

their substrate specificities differ with respect to acyl chain

length We used in vivo and in vitro assays of Saccharomyces

cerevisiae-expressed FAE1 KCSs to demonstrate that the

B napusFAE1 KCS enzyme favors longer chain acyl

sub-strates than the A thaliana enzyme Domains/residues

responsible for substrate specificity were investigated by

determining catalytic activity and substrate specificity of

chimeric enzymes of A thaliana and B napus FAE1 KCS

The N-terminal region,excluding the transmembrane domain,was shown to be involved in substrate specificity One chimeric enzyme that included A thaliana sequence from the N terminus to residue 114 and B napus sequence from residue 115 to the C terminus had substrate specificity similar to that of A thaliana FAE1 KCS However,a K92R substitution in this chimeric enzyme changed the specificity to that of the B napus enzyme without loss of catalytic activity Thus,this study was successful in identifying a domain involved in determining substrate specificity in FAE1 KCS and in engineering an enzyme with novel activity

Keywords: Arabidopsis thaliana; Brassica napus; fatty acid elongation; 3-ketoacyl-CoA synthase

The very long chain fatty acids (VLCFA) found in seed

oils are derived from the elongation of products of de novo

fatty acid biosynthesis [1] The initial reaction of

elonga-tion,i.e the iterative condensation of acyl units with

malonyl-CoA,is catalyzed in the seed by the

membrane-bound fatty acid elongase-1 3-ketoacyl-CoA synthase

(FAE1 KCS) [2] Subsequent reduction and dehydration

reactions are carried out by distinct and separate enzymes

that are just beginning to be characterized [1,3,4]

FAE1 KCS was first identified in Arabidopsis thaliana [5]

and homologues have been found in oleaginous species

such as Brassica napus, B juncea,and Simmondsia

chinen-sis[6–10] The functional similarity among these enzymes

is demonstrated by the ability of the jojoba FAE1 KCS to

complement the canola fatty acid elongation mutation

even though jojoba produces wax rather than

triacylgly-cerol,as found in other seed oils [6]

Examination of the VLCFA content of the seed oils of

A thalianaand B napus reveals differences in the levels of

eicosenoic (20:1) and erucic (22:1) fatty acids In A thaliana

seed oil,20% of the total fatty acids are VLCFA of which

18% of the total fatty acids are in the form of 20:1 and 2%

in the form of 22:1 [11] In B napus seed oil,62% of the total fatty acids are monounsaturated VLCFA,10% as 20:1 and 52% as 22:1 [12] As FAE1 KCS is responsible for VLCFA production in oilseeds [2,5,6], this diversity in VLCFA content suggests that A thaliana and B napus FAE1 KCS enzymes have distinct substrate specificities with the B napus enzyme favoring longer chain length substrates than the A thaliana enzyme The high sequence identity (86%) between these two enzymes further suggests that the determinants responsible for fatty acid substrate specificity in FAE1 KCS are few and potentially identifi-able

The significant amino acid sequence homology of FAE1 KCSs with soluble condensing enzymes,such as chalcone synthase and 3-ketoacyl-acyl carrier protein synthases (KASs) is consistent with a role for FAE1 KCSs

as fatty acid condensing enzymes [5,6,13] Our understand-ing of the structure/function relationships of soluble condensing enzymes has been greatly advanced with the recent crystal structures of KAS I,-II,and -III and chalcone synthase [14–19] However,only limited information is available about the structure of the membrane-bound KCSs Secondary structural analysis of the family of FAE1 KCS enzymes reveals two putative transmembrane domains at the N termini of the proteins Recent work in our laboratory has confirmed that the amino terminus of Arabidopsis FAE1 KCS is involved in anchoring the enzyme to the membrane [20] The difficulty inherent in crystallizing membrane-bound enzymes required us to take

a different approach to probing the structure/function relationships of FAE1 KCS Here,we report utilization of a domain-swapping approach to investigate the structural domains and residues responsible for substrate specificity in FAE1 KCS

Correspondence to: B J Blacklock,Department of Chemistry and

Biochemistry,Miami University,Oxford,OH 45056,USA.

Fax: +1 513 529 5715,Tel.: +1 513 529 1641,

E-mail: blacklb@muohio.edu

Abbreviations: VLCFA,very long chain fatty acid; FAE1 KCS,fatty

acid elongase-1 3-ketoacyl CoA synthase; KAS,3-ketoacyl-acyl

carrier protein synthase; cm-ura,complete minimal dropout media

lacking uracil; FAME,fatty acid methyl ester.

Note: The SWISS-PROT accession numbers for the FAE1 KCS are:

Arabidopsis thaliana,Q38860; Brassica napus,O23738.

(Received 31 May 2002,revised 2 August 2002,

accepted 12 August 2002)

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The redesign of a number of plant lipid metabolic

enzymes by swapping domains between related yet

func-tionally divergent enzymes has proven useful in obtaining

catalysts with novel substrate specificity An understanding

of the regions of enzymes that contribute to substrate

specificity and catalytic activity has also been gleaned from

these studies [21–25] By replacing only five amino acid

residues,Cahoon and coworkers engineered a soluble fatty

acid desaturase with D6-16:0 substrate specificity to one that

functions principally as a D9-18:0 desaturase [21] Similarly,

specificity for a 16:0 substrate was imparted to a D9-18:0

desaturase by replacement of a single residue [22]

An analogous approach was taken to deciphering the

architecture of the substrate-binding site of

membrane-bound desaturases and related enzymes [24,26] Libisch

et al constructed chimeras of Borago officinalis D6-fatty

acid and D8-sphingolipid desaturases and analyzed effects

on substrate specificity [24] These studies were unsuccessful

in identifying a discrete domain that can differentiate

between a phospholipid-conjugated substrate and a

cera-mide-conjugated substrate However,the authors were

successful in modifying the substrate specificity of the

D6-fatty acid desaturase to a preference for shorter chain

fatty acids [24]

A similar study demonstrated a switch in the oxidative

reactions catalyzed by membrane-bound oleate desaturases

and hydroxylases upon site-directed mutagenesis [26] When

the amino acid sequences of these highly homologous

enzymes were compared,seven residues were identified that

were conserved in the desaturases but divergent in the

hydroxylases The mutation of these residues in the

desaturases to the corresponding hydroxylase residues

resulted in the conversion of desaturase activity to

hydroxy-lase activity The reciprocal experiment allowed the

conver-sion of a hydroxylase to a desaturase [26]

The objective of our work was to examine the substrate

specificity of A thaliana and B napus FAE1 KCSs and to

study the determinants of fatty acyl chain length specificity

in 3-ketoacyl CoA condensing enzymes We were able to

map residues and regions of primary structure involved in

substrate specificity in KCS enzymes These studies

repre-sent the first steps toward a characterization of the

substrate-binding site of the membrane-bound KCS enzymes

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

Construction of yeast expression vectors and cell lines

A thaliana (var WS) FAE1 and B napus (var Golden)

FAE1.1genes were amplified from plasmids containing the

cDNAs with Vent DNA polymerase (New England

Biolabs) using primers (Table 1) containing restriction sites

convenient for subcloning into the pYES2 expression vector

(Invitrogen) PCR products and DNA fragments were

purified by agarose gel electrophoresis followed by Gene

Clean (Bio101,Vista,CA) A thaliana, B napus and

At114K92R genes were subcloned into a pYES2 vector

engineered to encode a (His)6GlySer fusion protein through

BamHI/EcoRI restriction enzyme sites Purified,digested

insert and pYES2 vector were ligated with T4 DNA ligase

(Life Technologies Gibco BRL) and transformed into

competent XL-1 Blue Escherichia coli (Stratagene) by

standard techniques [27] Insert-containing plasmids were

sequenced by in-house automated DNA sequencing to ensure they were mutation-free Plasmids were transformed into competent Saccharomyces cerevisiae (strain InvSc1, Invitrogen) by the lithium acetate method of Geitz et al [28]

Domain swapping and site-directed mutagenesis

by overlap extension Chimeric genes were constructed either by restriction enzyme digestion when convenient sites for domain swap-ping were present,or by thermostable DNA polymerase-mediated overlap extension and PCR essentially as described [29,30] Briefly, gene fragments were amplified from plasmids containing A thaliana or B napus FAE1 using 5¢ or 3¢ specific primers with restriction sites and overlapping primers either straddling the desired splice site

of the chimeric gene or containing the desired site-directed mutation (Table 1) Purified fragments were mixed and the full-length chimeric gene was constructed by extension of the overlapping fragments and PCR amplification with extreme 5¢ and 3¢ primers in the same reaction Amplifica-tion products were subcloned into pYES2 and sequenced as described above to confirm the correct sequence

Expression of FAE1 KCSs in yeast and preparation

of microsomes Transformed yeast was grown overnight with shaking in rich media at 30C and was used to inoculate complete minimal dropout media lacking uracil (cm-ura) [31] supple-mented with 2% galactose to give an initial D600of 0.01– 0.04 The cm-ura + gal cultures were grown to 1.5–2 D600 units and harvested Microsomes were prepared as des-cribed previously [32] using ice-cold isolation buffer (80 mM

Hepes/KOH pH 7.2,5 mMEGTA,5 mMEDTA,10 mM

KCl,320 mM sucrose,2 mM dithiothreitol) Protein con-centrations were determined after the method of Bradford [33] using BSA as a standard and adjusted to 2.5 lgÆlL)1by the addition of glycerol to 15% and isolation buffer Microsomes were frozen on dry ice,stored at)80 C until use and,once thawed,were not refrozen

GC/MS analysis of yeast lipids Yeast transformed with pYES2 or pYES2 with FAE1 insert were grown in cm-ura plus 2% raffinose and were induced

by 2% galactose as described above Cells were harvested by centrifugation and washed with dH2O; methyl esters of cellular lipids were prepared by incubation of the cell pellet

in 2% H2SO4in methanol at 80C for 1–2 h Fatty acid methyl esters (FAMEs) were extracted into hexanes, concentrated by evaporation under an N2 stream and dissolved in a small volume of hexanes FAMEs were separated by GC (Thermoquest Trace GC) on an RTX-5MS 0.25 lm column (Restek Corp Bellefonte,PA) and identified by MS on an inline Finnigan Polaris mass spectrometer

Assay of elongation activity of FAE1 KCSs Fatty acid elongase activity was measured essentially as described previously [34] The elongation reaction consisted

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of 20 mM Hepes/KOH pH 7.2,20 mM MgCl2,500 lM

NADPH,10 lM CoASH,100 lM malonylCoA,15 lM

[1-14C]18:1CoA,and 6 lg protein of prepared microsomes

in a final volume of 25 lL [1-14C]18:1CoA was synthesized

from [1-14C]18:1 free fatty acid (50–55 lCiÆlmol)1; ICN,

Costa Mesa CA) as described by Taylor et al [35] Methyl

esters of the radiolabeled acyl CoA elongation products

were prepared as described above,separated by reversed

phase silica gel TLC (Alltech,Deerfield,IL) with

acetonit-rile/methanol/H2O (65 : 35 : 0.5,v/v) developing solvent

[36] and analyzed by phosphorimaging; each band was then

quantitated by ImageQuant software (Molecular

Dynam-ics,Inc.)

Solubilization and isolation of (His)6-tagged fusion

proteins

(His)6 fusion proteins were solubilized and isolated as

described [20] Microsomes (2 lg proteinÆlL)1) expressing

(His)6-tagged fusion proteins were solubilized by incubation

on ice for 2 h in solubilization buffer (320 mMNaCl,0.5%

Triton X-100) and insoluble material was pelleted by

ultracentrifugation at 4C for 1 h at 235 000 g Superna-tants were combined with binding buffer (25 mMsodium phosphate pH 8.0,0.5% Triton X-100,150 mMNaCl,10% glycerol) at a ratio of 0.43 : 1 (supernatant : binding buffer) and applied to a 300-lL column of Ni+2-pentadentate chelator (Ni-PDC,Affiland,Ans-Liege,Belgium) The column was washed with 1 mL binding buffer,1 mL wash buffer (25 mM sodium phosphate pH 8.0,0.5% Triton X-100,500 mMNaCl,10% glycerol,20 mMimidazole) and

1 mL binding buffer Proteins were eluted from the column with 300 lL elution buffer (25 mM sodium phosphate

pH 8.0,0.5% Triton X-100,150 mMNaCl,10% glycerol,

300 mMimidazole),dithiothreitol was added to 2 mM,and samples were frozen on dry ice and stored at)80 C Condensation assay of (His)6-FAE1 KCS

Condensation activity of (His)6-FAE1 KCSs was assayed as previously described [37] Briefly,2.5 lL purified sample was incubated with condensation reaction mix (10 mM

sodium phosphate,pH 7.2,0.05% Triton X-100,15 lM

acyl CoA,20 l [3-14C]malonyl CoA) where the acyl CoA

Table 1 Primers used in subcloning and overlap PCR.

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was either 18:1CoA or 20:1CoA for 10 min at 30C.

Radiolabeled malonyl CoA was prepared as described

previously [38] 3-ketoacyl CoA reaction products were

reduced to the diols with NaBH4,extracted into petroleum

ether,concentrated by evaporation under an N2stream,and

quantified by liquid scintillation analysis

R E S U L T S

This report describes studies of the fatty acid chain length

substrate specificity of FAE1 KCS We tested the

hypothe-sis that A thaliana and B napus FAE1 KCS enzymes have

divergent substrate specificity and that determinants of that

specificity can be identified by domain swapping

experi-ments

We have developed a facile biochemical method to

characterize fatty acid elongase activities using an S

cere-visiaeexpression system Endogenous yeast fatty acids serve

as elongation substrates for in vivo analysis [2] and

exogenously supplied radiolabeled 18:1CoA is readily taken

up by microsomal fractions for in vitro assays [39]

As a first step,we established that the A thaliana and

B napus FAE1 KCSs were active in the S cerevisiae

expression system and indeed had distinct substrate

speci-ficities Elongation of yeast endogenous fatty acids by

FAE1 KCSs was examined by expressing plant

FAE1 KCSs in yeast and then analyzing the fatty acid

content of cellular lipids Table 2 shows the C20 to C26

fatty acid content of cellular lipids when yeast transformed

with pYES2 with A thaliana or B napus FAE1 inserts or

the empty vector was grown under galactose induction

conditions The VLCFA content of yeast carrying the

empty vector was principally limited to 26:0 with little or no

C20,C22 or C24 fatty acids present In contrast,expression

of either A thaliana or B napus FAE1 KCS resulted in the

production of significant levels of both saturated and

unsaturated C20 to C26 VLCFA A thaliana FAE1 KCS

expression caused an increase in VLCFA methyl esters to

32% of the total FAMEs: 19.3% C20,5.8% C22,2.6% C24

and 4.3% C26 B napus FAE1 KCS expression,on the

other hand,produced 11% of the total FAMEs as VLCFA:

3.5% C20,2.1% C22,0.8% C24 and 4.1% C26 These data

demonstrate that plant FAE1 KCS enzymes were expressed

and have activity in this yeast system Further,these results

show that in yeast, A thaliana FAE1 KCS produces more

C20,C22 and C24 fatty acids than B napus FAE1 KCS

and that the majority of the VLCFA products are C20

B napus FAE1 KCS appeared to have more activity

toward C20 than A thaliana FAE1 KCS as indicated by

near equal levels of C20 and C22 products when B napus FAE1 KCS was expressed While these results are,in general,consistent with the apparent substrate specificity of the A thaliana and B napus FAE1 KCS enzymes in seeds, the B napus enzyme appeared to be less active than the

A thalianaFAE1 KCS in yeast

The substantial levels of saturated and unsaturated fatty acid methyl esters demonstrated that FAE1 KCSs have activity toward both monounsaturated and saturated fatty acids The FAE1 KCS-derived saturated fatty acid prod-ucts appear to feed into the yeast saturated VLCFA pathway VLCFA up to C26 as 24:0 and 26:0 were produced at elevated levels when either A thaliana or

B napus FAE1 KCS were expressed compared to the empty vector control

While in vivo assays indicated that the plant FAE1 KCSs were able to couple to the yeast fatty acid elongation complex,an assay of the actual catalytic activity of the FAE1 KCSs was required to characterize the enzymes accurately Microsomes were prepared from galactose-induced yeast transformed with empty vector (pYES2) or pYES2 with A thaliana or B napus FAE1 insert Elonga-tion of [1-14C]18:1CoA to [3-14C]20:1CoA and [5-14C]22:1CoA by the microsomes was measured by incubation with malonyl CoA and required cofactors, followed by transacylation of the CoA conjugates to methyl esters [34,39] Elongation activity of both A thaliana and

B napusFAE1 KCS reached a plateau by 20 min but the catalytic activity of B napus FAE1 KCS was lower than that of A thaliana FAE1 KCS (Fig 1) When the activities

of the two enzymes were compared in numerous experi-ments with individual transformants,this difference between A thaliana and B napus FAE1 KCSs was consis-tently observed As the same expression vector and yeast strain were used,this appears to reflect actual differences in catalytic activity rather than differences in expression level although we do not know the amount of FAE1 KCS protein present in the microsomes It appears that the

A thaliana FAE1allele codes for a more active enzyme than the B napus FAE1 allele used here Subsequently,we were able to isolate (His)6-tagged fusion proteins and directly assay condensation activity of A thaliana and B napus (His)6-FAE1 KCSs [A thaliana,538.5 ± 68.1 pmolÆlg)1 protein (± SD) 20:1 product and 126.8 ± 14.7 22:1 product;

B napus 135.0 ± 17.5 20:1 product and 64 ± 4.4 22:1 product] These observations are consistent with results obtained in in vivo experiments

Comparison of total elongation activities demonstrated that the A thaliana enzyme was more active than the

Table 2 Effect of the expression of A thaliana and B napus FAE1 KCS on yeast cellular lipids S cerevisiae transformed with expression vectors encoding A thaliana or B napus FAE1 KCS or the empty vector (pYES2) were pre-grown on raffinose (2%) and induced with galactose (2%) for

2 days Total fatty acid composition was determined by GC/MS of FAMEs prepared by transacylation Results are reported as the percentage total fatty acid methyl esters and are the mean ± SD of five independent transformants.

FAME (%)

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B napusenzyme (Table 3) Analysis of the individual acyl

products indicated differences in the substrate specificity

of the two FAE1 KCSs Relative substrate specificity of

FAE1 KCSs can be compared by expressing the ratio of

22:1 produced over 20:1 produced An enzyme which favors

the production of 22:1 would therefore have a higher 22:1/

20:1 product ratio than one which favors the production of

20:1 fatty acids Table 3 shows the product ratios of

A thaliana and B napus FAE1 KCSs after 10 min The

larger 22:1/20:1 product ratio of B napus FAE1 KCS

demonstrated that B napus FAE1 KCS was indeed

pro-portionally more active toward 20:1 as a substrate than the

A thaliana FAE1 KCS A thaliana FAE1 KCS had a

substrate specificity directed primarily toward an 18:1

substrate

Both in vivo and in vitro data indicate that A thaliana

and B napus FAE1 KCS enzymes have distinct substrate

specificities and that differences in seed oil composition

reflect these substrate specificities The primary sequence

alignment (Fig 2) demonstrates that there is a high degree

of homology between A thaliana and B napus

FAE1 KCS (86% identity) This similarity suggested to

us that factors involved in substrate specificity were

potentially identifiable As little is known about the

structure of FAE1 KCSs,we approached the problem

with no attempt to predict where residues or regions

important in substrate specificity would be found

Swap-ping of domains between A thaliana and B napus

FAE1 KCSs by ligation of restriction digest fragments or

by overlap PCR produced cognate full-length chimeric FAE1 genes Fig 3 is a schematic representation of a number of the chimeric enzymes engineered in this study Chimeric enzymes were characterized based on activity and the 22:1/20:1 product ratio Our goal was to identify the smallest domain required to retain a particular substrate specificity and to engineer an enzyme with novel activity Twenty-nine chimeras were prepared for this study The first group of constructs produced pairs of chimeras with switchover points between A thaliana FAE1 KCS sequence and B napus FAE1 KCS sequence at residues 399,254 and 173 These constructs represent swaps in the C-terminal domain,at the midpoint and in the N-terminal domain (Fig 3) Chimeras were named based on the origin

of the N terminus and the residue at which the switchover occurred For example,for At254,residues 1–254 are derived from A thaliana FAE1 KCS and residues 255–506 are derived from B napus FAE1 KCS When in vitro elongation activity was measured,the initial FAE1 KCS chimeras segregated into two classes: those with measurable elongase activity and those with little or no activity (Fig 4A) All of the chimeric enzymes with activity had

A thalianasequence at the N terminus while enzymes with

B napuscoding sequence in the N terminus had little or no activity All of the active chimeras had A thaliana-like substrate specificity as indicated by low 22:1/20:1 product ratios (Fig 4B) The FAE1 KCS chimera with the smallest region containing A thaliana FAE1 KCS sequence in this group was At173 indicating that at least one determinant of

Table 3 Elongation activity and product ratio (22:1/20:1) for A thaliana and B napus FAE1 KCS Reactions were carried out for 10 min and results presented are the mean ± SD of five individual assays using four separate microsomal preparations.

16

14

12

10

8

6

4

2

0

50 40

30 20

10

0

time (min)

Fig 1 Elongase activity of microsomes prepared from S cerevisiae

expressing A thaliana or B napus FAE1 KCS Microsomes prepared

from induced S cerevisiae transformed with empty vector (pYES2, n)

or vectors encoding A thaliana (h) or B napus (s) FAE1 KCSs were

were taken between 5 and 45 min and are plotted as total elongation

results are the mean of five assays using four separate microsomal

preparations and error bars indicate standard deviation.

FAE1 KCS sequences Identical residues are included in the shaded box.

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fatty acyl chain length specificity in FAE1 KCSs resides in

the N terminal one-third of the protein

We further dissected the N-terminal region of the

FAE1 KCSs by preparing chimeras with switchover

points at residues 114 and 74 (At114 and At74) Although

the catalytic activity was lower in these chimeras,At114

had A thaliana FAE1 KCS-like substrate specificity while

At74 more closely resembled B napus FAE1 KCS in

substrate specificity (Table 4) At74 had primarily

B napussequence (85%) with A thaliana sequence

inclu-ded only in the extreme N-terminal putative

transmem-brane domains Thus,a shift in substrate specificity from

A thaliana FAE1 KCS-like to B napus FAE1 KCS-like

occurred between chimera At114 and At74 indicating that

determinants of substrate specificity reside between

resi-dues 74 and 114 Furthermore,as At74 is encoded entirely

by B napus sequence except for the transmembrane

domain,the transmembrane domain appears to have

little or no role in the determination of substrate

specificity in FAE1 KCS

The stretch of primary sequence between residues 74 and

114 contains nine nonidentical residues (Fig 2)

Site-direc-ted mutagenesis of chimera At114 was utilized to dissect this

region further in an attempt to reveal specific residues

involved in imparting specificity toward the 20:1 substrate in

FAE1 KCSs Some of these chimeras were inactive

(At114D81E,At114P89T,At114L91C,At114V93S),while

others had activity similar to that of the parent enzymes

(Fig 5A) When the 22:1/20:1 product ratio of the active

chimeras were compared,all chimeras in this group had

A thaliana-like product ratios except At114K92R,which

had the substrate specificity of B napus FAE1 KCS (Fig 5B) This suggests that residue 92 has some role in determining substrate specificity of FAE1 KCSs Catalytic activity of At114K92R,however,was similar to that of

A thalianaFAE1 KCS (Fig 5A) while At114 had lower catalytic activity than A thaliana FAE1 KCS This dem-onstrated a novel activity in At114K92R and suggested that residue 92 is involved in catalytic activity as well as substrate specificity

We further examined the role that residue 92 plays in substrate specificity by replacing K92 with R in wild-type

A thaliana FAE1 KCS Both catalytic activity and

25

20

15

10

5

0

A thaliana B napus

At399 Bn399 At254 Bn254 At173 Bn173

A

0.6

0.5

0.4

0.3

0.2

0.1

0.0

A thaliana B napus

At399 At254 At173

B

A thaliana, B napus, At399, Bn399, At254, Bn254, At173, and Bn173 FAE1 KCS and (B) product ratio (22:1/20:1) for A thaliana, B napus, At399, At254, and At173 FAE1 KCS (A) Reactions were carried out for 10 min and results presented are the mean of one to three indi-vidual assays using three microsomal preparations (± SD) (B) Reactions were carried out for 10 min and results presented are the mean of one to three individual assays using three microsomal preparations (± SD).

Fig 3 Schematic representation of chimeric FAE1 KCS polypeptides.

and B napus FAE1 KCS sequence is represented as a shaded bar.

The chimeric alleles were named for the FAE1 KCS sequence in

the N-terminal domain followed by the residue number at which the

sequence shifts to the other FAE1 KCS sequence Point mutations are

named by the convention of the wild-type residue followed by the

residue number and the amino acid that has been substituted at that

residue.

Table 4 Elongation activity and product ratio (22:1/20:1) for A thali-ana, B napus, At114 and At74 F AE1 KCS Reactions were carried out for 10 min and results presented are the mean ± SD of two or three individual assays for each of four microsomal preparations.

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substrate specificity of AtK92R were essentially identical to

the wild-type A thaliana FAE1 KCS (Fig 5)

A procedure for the isolation of (His)6-tagged

FAE1 KCSs was developed in our laboratory,subsequent

to the analysis of the entire set of chimeras prepared in this

study,which allowed us to assay directly the condensation

activity of the isolated (His)6-FAE1 KCSs [20] We used this

assay to verify that the product ratios observed in the

elongation assay of microsomal preparations were an actual

measure of the activity of the FAE1 KCS and were not an

artifact of differential interactions with yeast enzymes

required to produce the elongation product When the

condensation activity of isolated (His)6-tagged A thaliana,

B napus,and At114K92R FAE1 KCSs were measured

with 18:1CoA and 20:1CoA substrates,22:1/20:1 product

ratios were: (His)6-A thaliana FAE1 KCS,0.25 ± 0.07;

(His)6-B napus FAE1 KCS,0.78 ± 0.13; (His)6

-At114K92R,0.71 ± 0.10 (product ratio ± SD,n¼ 9)

The product ratio of condensation activity of (His)6

-B napusFAE1 KCS and (His)6-At114K92R was therefore

similar and distinct from that of (His)6-A thaliana

FAE1 KCS as was demonstrated by the elongation assay

of FAE1 KCSs in the yeast microsomal system

D I S C U S S I O N

In this study,we attempted to gain insights into the structural basis for substrate specificity in FAE1 KCS enzymes As no crystal structure of any membrane-bound FAE1 KCS is available,we used a biochemical approach with molecular genetic tools We reasoned that the difference in oil content of A thaliana and B napus seeds is a consequence of divergent substrate specificity of the key enzyme responsible for VLCFA production in seeds,FAE1 KCS The high degree of homology between these enzymes allowed us to use a domain-swapping approach to identify regions/residues involved in substrate specificity

Our first step was to establish the substrate specificity of

A thalianaand B napus FAE1 KCSs with both in vivo and

in vitroassays of elongation activity Analysis of the effect of expression of A thaliana and B napus FAE1 KCS on yeast cellular lipids indicated that these enzymes have activity toward both monounsaturated and saturated fatty acids This is consistent with the observation by Millar and Kunst that over-expression of FAE1 KCS in Arabidopsis resulted

in an increase in elongation products of both 18:0 and 18:1 fatty acids [2] In addition,James et al showed that disruption of expression of FAE1 KCS in Arabidopsis resulted in a decrease in the levels of both saturated and monounsaturated VLCFA in seed [5] In the in vivo experiment presented here,C18 and C20 monounsaturated fatty acids were elongated by the FAE1 KCSs to a greater degree than were saturated fatty acids This may reflect the available substrates in this yeast system and/or the ability of the enzymes further down the metabolic pathway to use the products of the FAE1 KCS condensation activity Indeed,

in the S cerevisiae strain used in these studies,monoun-saturated C16 and C18 fatty acids were at least twice as abundant as the saturated C16 and C18 fatty acids The in vivo activities presented here demonstrated that both FAE1 KCS enzymes were active in the yeast expres-sion system and were able to couple to the yeast fatty acid elongation complex These results show the usefulness of this in vivo system as a quick screen for activities of FAE1 KCSs However,the results are reflective of the entire yeast metabolic pathways from the synthesis of 3-ketoacyl CoAs by a condensing enzyme to the incorporation of fatty acids into lipids such as triacylglycerol or membrane phospholipids This in vivo system is therefore inadequate for assigning substrate specificity and catalytic activity to an exogenous KCS as activities and specificities of subsequent yeast enzymes,potential compartmentalization and avail-ability of substrates could interfere with interpretation of the results This may be especially important in examining the activity of other plant KCS enzymes such as those encoded

by KCS1 and CER6 which use longer VLCFA as substrates [39,40] A detailed examination of activity and substrate specificity of a KCS is possible only with an in vitro approach

We found that in both in vivo and in vitro assays,

A thaliana FAE1 KCS had more activity toward a C18 substrate than toward a C20 substrate The B napus enzyme,on the other hand,had similar activity toward C18 and C20 fatty acyl groups The data presented here demonstrate that A thaliana and B napus FAE1 KCS enzymes have distinct substrate specificities

20

15

10

5

0

0.5

0.4

0.3

0.2

0.1

0.0

B

A

At114K92R, At114V93S, At114V95I, At114I105 V, At114T110P,

At114S112-, AtK92R FAE1 KCS and (B) product ratio (22:1/20:1) for

At114T110P, At114S112-, AtK92R FAE1 KCS (A) Reactions were

carried out for 10 min and results presented are the mean of one to

three individual assays each of at least seven separate microsomal

preparations (± SD) (B) Reactions were carried out for 10 min and

results presented are the mean of one to three individual assays each of

at least seven separate microsomal preparations (± SD).

Trang 8

and are consistent with our hypothesis that differences in

seed oil composition reflect these substrate specificities

Through the preparation and assay of chimeric enzymes,

we were able to define the region between residue 74 and 173

as an important domain in conferring substrate specificity to

FAE1 KCSs This domain excludes the putative

transmem-brane domain predicted to be to the N-terminal side of

residue 72 It is not surprising that the transmembrane

domain of FAE1 KCSs is not involved in substrate

specificity and therefore substrate binding because the fatty

acyl CoA substrates are expected to be delivered from the

cytosol and available at the membrane interface [1] This is

in contrast to membrane-bound fatty acid- and

sphingo-lipid-desaturases,which appear to utilize phospholipid- or

sphingolipid-conjugated fatty acids Chimerigenesis studies

of the borage D6-fatty acid and D8-sphingolipid desaturases

indicate that a transmembrane portion of these enzymes is

involved in substrate binding which is consistent with the

membrane localization of the substrates of these desaturases

[24]

If the region from the end of the transmembrane domain

to residue 173 is indeed involved in imparting substrate

specificity to KCS condensing enzymes,we would expect

this region to be of particular heterogeneity among the

family of plant ketoacyl-CoA condensing enzymes The

completion of the sequence of the Arabidopsis genome [41]

presents an opportunity to compare the sequences of all

predicted KCS-like genes in the genome A recent database

search revealed at least 15 distinct KCS-like genes in the

Arabidopsisgenome The gene product of four of these have

been assigned physiological functions in mutant analysis

and expression disruption studies; FAE1,CER6,KCS1,

and FDH [2,5,39,40,42,43] Alignment of these sequences

demonstrated regions of high homology distributed

throughout the enzymes The region corresponding to

residues 74–173 of A thaliana FAE1 KCS,however,is

relatively heterogeneous Recent work in our laboratory has

identified the active site cysteine of A thaliana FAE1 KCS

as residue 223 and has suggested that His391 is also involved

in the active site [44] These two catalytically important

residues are found in regions of high homology and are

distant from the region that has been identified to be

important in substrate specificity in this study

Given the similarity of the two interchanged residues,it is

surprising that the change of K92 to R in At114 resulted in a

shift of substrate specificity from A thaliana-like to one

more specific for a 20:1 substrate When the substitution of

amino acids in families of proteins such as globins and

cytochrome c was calculated,arginine and lysine were often

substituted for each other and were considered safe

substitutions [45] The absence of an effect of the K92R

mutation in wild-type A thaliana FAE1 KCS points to a

role for residue 92 in determining substrate specificity that is

specific to At114 FAE1 KCS Arg92 in At114K92R

appears to interact with B napus residues that are not

present in A thaliana FAE1 KCS These results also

indicate that residue 92 is not the sole residue involved in

conferring substrate specificity in FAE1 KCS The chimera

At114K92R will therefore be invaluable in further studies of

the domains/residues that are involved in substrate

speci-ficity in FAE1 KCS as this enzyme may now be utilized in

domain-swapping experiments that focus on the C termini

of the proteins

We noted the levels of enzyme activity of A thaliana and

B napusFAE1 KCSs with interest B napus seed oil has a larger proportion of VLCFA compared to total fatty acids than A thaliana seed oil The incongruity of the level of seed oil VLCFA and the activity of the B napus FAE1 KCS assayed here may have several explanations A less active FAE1 KCS in B napus seeds could be compensated by the efficiency of the remainder of the biosynthetic pathway At least five very similar genes encoding FAE1 KCS enzymes have been found in B napus cultivars [7,8,46,47] The fatty acid content of the seed oils of the cultivars from which these genes were cloned may reflect differences in elongation activity The FAE1 KCS from B napus (var Golden) used

in this study may have a relatively low level of activity compared to other B napus FAE1 KCS homologues In addition,the amphidiploidy of Brassica species such as

B napus[12] may result in a higher seed oil VLCFA level than that predicted from the in vitro activities of individual FAE1 KCSs In the plant,one highly active FAE1 KCS may dominate or the additive effect of expression of two different FAE1 KCSs may result in high VLCFA production

In this work we also noted the level of activity found in many of the chimeric enzymes Many of the changes we made resulted in chimeric enzymes with substantially lower activity than the wild-type parents This was especially apparent when the N terminus of the chimeras was derived from B napus FAE1 KCS In addition, chimeras At74 and At114 had relatively poor activity compared to the wild-type enzymes When similar experi-ments were conducted with plant acyl-acyl carrier protein thioesterases and acyl-acyl carrier protein desaturases,a decrease in the activity of the engineered enzymes often resulted,regardless of a high level of identity between the two enzymes examined [21–23] On the other hand, several of the changes made in our study resulted in enzymes with excellent retention of activity For example, At114K92R had even more activity than the At114 parent chimera

The crystal structures of related condensing enzymes,

E coliKAS I,-II,and -III,alfalfa chalcone synthase and

S cerevisiae3-ketoacyl-CoA thiolase,have been solved [15– 19,48] Although the overall sequence homology is very low, these enzymes exhibit a common fold with a five-layered core structure; a-b-a-b-a,where a comprises two a-helices and each b is a five-stranded,mixed b-sheet [16,18,19] Alignment of the secondary structural features of the crystal structures with PHD predicted secondary structure of FAE1 KCS (data not shown) suggesting that there are common structural elements among these condensing enzymes The substrate-binding site of KAS II may repre-sent the best available model for that of FAE1 KCS,as KAS II catalyzes the condensation of a 16:1 moiety with malonyl-ACP The crystal structure of KAS II alone and with the mycotoxin inhibitor,cerulenin,revealed that the substrate binding pocket of KAS II is lined with hydro-phobic residues predominantly from the N-terminal domain

of the enzyme that are essential for the binding of long chain substrates such as 16:1 [16,49] The research presented here demonstrates that residues important to substrate binding for FAE1 KCS also include N-terminal residues and may suggest similar substrate-binding pockets for the two enymes

Trang 9

In the redesign of a soluble fatty acid desaturase from one

with D6-16:0 activity to one with D9-18:0 activity,Cahoon

et al replaced only five amino acids in the D6-16:0 specific

enzyme with corresponding residues from the D9-18:0

specific desaturase [21] The X-ray crystal structure of the

D9-18:0 desaturase revealed that many of the residues which

were identified in the mutagenesis study to be responsible

for chain length substrate specificity,line the

substrate-binding pocket [21,50] The substitution of only two residues

is sufficient for the conversion of an 18:0-specific desaturase

to one that strongly prefers a 16:0 substrate albeit with less

than half of the total catalytic activity of the parent enzyme

[21] Taken together with our studies,these results suggest

that the substrate-binding site of the soluble desaturases is

more rigid in the nature of acceptable substrates than that of

FAE1 KCS The KCS enzymes studied here appear to have

a flexible substrate-binding pocket as demonstrated by the

in vivoactivities in yeast The conversion of an 18:1-specific

condensing enzyme to one that uses only 20:1 substrates

may not therefore be feasible with the replacement of a

small number of residues

In summary,this work was successful in identifying,for

the first time,regions and residues important in fatty acyl

chain length specificity in a membrane-bound condensing

enzyme The identification of At114K92R as an enzyme

with novel activity will be useful for the future identification

of other residues involved in fatty acyl chain length substrate

specificity in FAE1 KCS This study will also serve as a basis

for progress toward further understanding the structure–

function relationships for FAE1 KCS and other

membrane-bound fatty acid elongase condensing enzymes

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

We thank Dr Hugo Dooner,Rutgers University,for permission to use

the A thaliana FAE1 gene and Dr Ljerka Kunst,University of British

Columbia,for the generous gift of the B napus FAE1 cDNA This

work was supported by a grant from Cargill,Inc.

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