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Cloning and functional characterization of Phaeodactylum tricornutumfront-end desaturases involved in eicosapentaenoic acid biosynthesis Fre´de´ric Domergue1,*, Jens Lerchl2, Ulrich Za¨h

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Cloning and functional characterization of Phaeodactylum tricornutum

front-end desaturases involved in eicosapentaenoic acid biosynthesis

Fre´de´ric Domergue1,*, Jens Lerchl2, Ulrich Za¨hringer3and Ernst Heinz1

1

Institut fu¨r Allgemeine Botanik, Universita¨t Hamburg, Hamburg, Germany;2BASF Plant Science GmbH, BPS-A30,

Ludwigshafen, Germany;3Forschungszentrum Borstel, Borstel, Germany

Phaeodactylum tricornutum is an unicellular silica-less

diatom in which eicosapentaenoic acid accumulates up to

30% of the total fatty acids This marine diatom was used for

cloning genes encoding fatty acid desaturases involved in

eicosapentaenoic acid biosynthesis Using a combination of

PCR, mass sequencing and library screening, the coding

sequences of two desaturases were identified Both protein

sequences contained a cytochrome b5domain fused to the

N-terminus and the three histidine clusters common to all

front-end fatty acid desaturases The full length clones were

expressed in Saccharomyces cerevisiae and characterized as

D5- and D6-fatty acid desaturases The substrate specificity

of each enzyme was determined and confirmed their

involvement in eicosapentaenoic acid biosynthesis Using

both desaturases in combination with the D6-specific

elongase from Physcomitrella patens, the biosynthetic path-ways of arachidonic and eicosapentaenoic acid were recon-stituted in yeast These reconstitutions indicated that these two desaturases functioned in the x3- and x6-pathways, in good agreement with both routes coexisting in Phaeodacty-lum tricornutum Interestingly, when the substrate selectivity

of each enzyme was determined, both desaturases converted the x3- and x6-fatty acids with similar efficiencies, indicating that none of them was specific for either the x3- or the x6-pathway To our knowledge, this is the first report describing the isolation and biochemical characterization of fatty acid desaturases from diatoms

Keywords: front-end desaturase; diatom; polyunsaturated fatty acid; eicosapentaenoic acid

Diatoms are unicellular photosynthetic microalgae of the

phytoplankton that are particularly important in ocean

ecosystems; they are thought to be responsible for as much

as 25% of global primary productivity and for an

accord-ingly significant O2production [1] Because most of diatoms

are surrounded by a highly structured silica cell wall, they

also play a key role in the biogeochemical cycling of silica

[2] Diatoms are used commercially for various purposes

such as feeds in aquaculture, sources of polyunsaturated

fatty acids (PUFAs) or pharmaceutical drugs [3]

Phaeo-dactylum tricornutum, a silica-less diatom, is one of the most

widely utilized model systems for studying the ecology,

physiology, biochemistry and molecular biology of diatoms

[4] This organism became even more attractive with the

recent establishment of a procedure for its stable

transfor-mation [4–6], which enabled the demonstration of its

sensing system [7] and its conversion into a heterotrophic

organism, opening the possibility to grow it by large-scale

fermentation for commercial exploitation [8]

As its fatty acid composition contains up to 30% eicosapentaenoic acid (EPA, 20:5D5,8,11,14,17) and only traces of docosahexaenoic acid (DHA, 22:6D4,7,10,13,16,19),

P tricornutumrepresents an interesting alternative source for the industrial production of EPA, and gram-scale purification of this particular PUFA has already been achieved [9] Very long chain PUFAs like EPA, DHA and arachidonic acid (ARA, 20:4D5,8,11,14) have received great interest as such fatty acids are required in the human diet for normal health and development, particularly in the case

of new-borns and infants [10,11] Polyunsaturated fatty acids are important constituents of membranes and precursors of several biologically active eicosanoids, like prostaglandins and leukotrienes, which regulate many physiological functions in mammals [12] For mammals lacking D12- and D15-fatty acid desaturases, 18:2D9,12and 18:3D9,12,15 are considered to be essential fatty acids that must be supplied in the diet Although humans can synthesize very-long chain PUFAs from these precursors, dietary changes over the last decades resulted in very high x6- to x3-fatty acid ratios that have negative impacts on both health and development [13,14] In order to circum-vent this deficit in x3-fatty acids and to preserve marine reserves, alternative sources have been searched, among others the production of PUFAs in transgenic oilseed crops [15] Such a goal has led to the identification of most

of the genes coding for the enzymes involved in PUFA biosynthesis (fatty acid desaturases and elongases) in several organisms, such as the nematode Caenorhabditis elegans[16], the fungus Mortierella alpina [17,18] and the moss Physcomitrella patens [19,20], but so far not in any diatom, even though they represent an important group of primary x3-fatty acid producers

Correspondence to F Domergue, Institut fu¨r Allgemeine Botanik,

Universita¨t Hamburg, Ohnhorststrasse 18, 22609 Hamburg,

Germany Fax: +49 40 42816 254, Tel.: + 49 40 42816 373,

E-mail: fredDo@botanik.uni-hamburg.de

Abbreviations: PUFAs, polyunsaturated fatty acids; GLC-MS, gas

liquid chromatography-mass spectrometry; ARA, arachidonic acid;

EPA, eicosapentaenoic acid; DHA, docosahexaenoic acid; FAMEs,

fatty acid methyl esters; FID, flame-ionization detector.

*Present address: Plant Science Sweden AB, SE-26831 Svalo¨v, Sweden.

(Received 18 April 2002, revised 24 June 2002,

accepted 10 July 2002)

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Using various14C-labelled precursors, Moreno et al [21]

showed that P tricornutum synthesized EPA de novo by

elongation and aerobic desaturation of fatty acids As

shown in Fig 1, EPA can be synthesized by the classical

x6-pathway, the classical x3-pathway, a pathway relying on

intermediates of both of these pathways and by an

alter-native x3-pathway involving D9-elongation and

D8-desat-uration [22] Pulse-chase experiments with [14C]linoleic acid

suggested that the third route was the most active one,

invol-ving successively D6-desaturation (18:2D9,12to 18:3D6,9,12),

x3-desaturation (18:3D6,9,12to 18:4D6,9,12,15), D6-elongation

(18:4D6,9,12,15 to 20:4D8,11,14,17) and a final D5-desaturation

(20:4D8,11,14,17 to 20:5D5,8,11,14,17 [22]) P tricornutum is a

particularly interesting model for studies on PUFA

biosyn-thesis because EPA represents up to 30% of the total fatty

acids whereas all the intermediates of its pathway are only

present in traces This accumulation of only EPA may

indicate that the elongase and desaturases responsible for its

biosynthesis are very effective in channelling the different

intermediates towards the final product We therefore

decided to use this organism for cloning the genes encoding

the different fatty acid desaturases involved in EPA

biosynthesis and identified two sequences coding for fatty

acid desaturases with D5- and D6-regioselectivities Using

these two genes together with that of the D6-specific

elongase from P patens [20], the biosynthetic pathways of

ARA and EPA were successfully reconstituted in yeast,

showing that these desaturases were responsible for the

D5-and D6-activities of both the x3- D5-and x6-pathways

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

Materials

Restriction enzymes, polymerases and DNA modifying

enzymes were obtained from New England Bioloabs

(Frankfurt, Germany) unless indicated otherwise All other chemicals were from Sigma (St Louis, MO, USA) Phaeodactylum tricornutum culture

P tricornutumUTEX 646 was grown in f/2 culture medium supplemented with 10% organic medium [23] at 22Cwith aeration and photoperiods of 16 h of light (35 lEÆm)2Æs)1) cDNA library construction

Frozen cells of P tricornutum were ground in the presence

of liquid nitrogen and the resulting fine powder was resuspended in 2 mL of homogenization buffer (0.33M

sorbitol, 0.3M NaCl, 10 mM EDTA, 10 mM EGTA, 2% SDS, 2% 2-mercaptoethanol in 0.2M Tris/HCl pH 8.5) Phenol (4 mL) and chloroform (2 mL) were added succes-sively and the samples were shaken vigorously for 15 min at 40–50C After centrifugation (10 min · 10 000 g), the aqueous phase was successively extracted with 2 mL of phenol/chloroform (1 : 1, v/v) and 2 mL of chloroform 1/20 vol of 4MNaHCO3and 1 vol of ice-cold isopropanol were added and the sample stored overnight at)20 C Nucleic acids were precipitated (30 min· 10 000 g), washed with 70% ethanol and resuspended in 80 mM

Tris/borate pH 7.0 containing 1 mM EDTA 1/3 vol of

8M LiCl was added and the sample incubated 30 min at

4C After centrifugation (30 min · 10 000 g), the pellet was washed with ethanol 70% (v/v) and resuspended in RNase-free water Poly(A)+ RNA was isolated with Dynabeads (Dynal, Oslo, Norway) and cDNA first strand synthesis was achieved using the murine leukemia virus reverse transcriptase (Roche, Mannheim, Germany) The second strand synthesis was carried out by incubation with DNA polymerase I and Klenow enzyme, followed by RNaseH digestion cDNA was blunted with the T4 DNA

Fig 1 Possible biosynthetic routes leading to EPA biosynthesis in Phaeodactylum tricornu-tum The classical x6- and x3-pathways are framed and the alternative x3-pathway (involving D9-elongation and D8-desatura-tion) is shown with broken arrows The most active route according to Arao and Yamada [22] is shown with wide arrows and with text in bold.

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polymerase (Roche), and EcoRI/XhoI adapters (Pharmacia,

Freiburg, Germany) were ligated with the T4 DNA ligase

After XhoI digestion, phosphorylation with the

polynucleo-tide kinase (Roche) and gel separation, DNA molecules

larger than 300 bp were ligated into vector arms and

packaged into lambda ZAP Express phages using the

Gigapack Gold Kit (Stratagene, Amsterdam, Netherlands)

Random sequencing of the cDNA library

After in vivo mass excision of the cDNA library, plasmid

recovery and transformation of Escherichia coli DH10B

(Stratagene), plasmid DNA was prepared on a Qiagen

DNA preparation robot (Qiagen, Hilden, Germany)

according to the manufacturer’s instructions and submitted

to random sequencing by the chain termination method

using the ABI PRISM Big Dye Termination Cycle

Sequencing Ready Reaction Kit (Perkin-Elmer,

Weiters-tadt, Germany) About 8400 clones were processed and

annotated using the standard software package EST-MAX

(Bio-Max, Munich, Germany), resulting in 3860

nonredun-dant sequences

PCR amplification

In parallel, a PCR-based cloning strategy was followed

using primer mixtures corresponding to the highly

con-served histidine clusters present in membrane-bound

desat-urases [24] After in vivo mass excision of the P tricornutum

cDNA library, the resulting plasmid bank was used as

template for PCR with different combinations of degenerate

primers [19] PCR amplifications were carried out using the

Pfu DNA polymerase (Stratagene) and the following

program: denaturation for 3 min at 96C; 5 cycles of 30 s

at 96C, 30 s at 55 C(decreasing by 3 Cin each

successive cycle), 1 min at 72C; 30 cycles of 30 s at 96 C,

30 s at 40C , 1 min at 72 C; and a final extension step of

10 min at 72C

cDNA library screening

Both methods yielded several sequences which were

anno-tated to putative desaturases For full length cloning via

library screening, the sequence of interest was cloned into

the pGEM-T vector (Promega, Madison, WI, USA) and a

digoxigenin-labelled DNA probe of this fragment was

synthesized by PCR The cDNA library described above

(about 5· 105 plaques) was screened according to the

manufacturer’s instructions (Boehringer, Mannheim,

Ger-many, Stratagene) After two rounds of screening, several

clones were isolated and the longest ones sequenced on both

strands

Functional characterization inS cerevisiae

For functional characterization, the P tricornutum cDNA

clones were cloned in different yeast expression vectors For

this purpose, the different open reading frames (ORF) were

modified by PCR to create appropriate restriction sites

adjacent to the start and stop codons and to insert the yeast

consensus sequence for enhanced translation [25] in front of

the start codon The amplified DNAs were first cloned into

pUC18 using the SureClone Ligation Kit (Pharmacia) The

ORFs were then released using the restriction sites created

by PCR and cloned into the same sites of different yeast expression vectors Using SpeI and SacI sites, the ORF of PtD5 was cloned behind the galactose-inducible promoter

PGAL10of the yeast expression vector pESC-LEU (Strata-gene), yielding pESC-LEU-PtD5 The ORF of PtD6 was cloned behind the constitutive promoter PADHof the yeast expression vector pVT102-U [26] using BamHI and XhoI sites, yielding pVT102-U-PtD6 To obtain pESC-LEU-PSE1-PtD5, the ORF of pse1 was released from pY2PSE1 [20] using BamHI, cloned behind the galactose-inducible promoter PGAL1of pESC-LEU before inserting the ORF of PtD5 as indicated above

C13ABYS86 Saccharomyces cerevisiae strain (leu2, ura3, his, pra1, prb1, prc1, cps [27]) was transformed with plasmid DNA by a modified PEG/lithium acetate protocol [28] After selection on minimal medium agar plates without uracil or leucine, cells harbouring the yeast plasmid were cultivated in minimal medium lacking uracil or leucine but containing 2% (w/v) raffinose and 1% (v/v) Tergitol NP-40 The expression was induced by supplementing galactose to 2% (w/v) when the cultures had reached a D600of 0.2–0.3

At that time, the appropriate fatty acids were added to a final concentration of 500 lM, unless indicated otherwise All cultures were then grown for a further 48 h at 20C, unless indicated otherwise, and used for fatty acid analysis Fatty acid analysis

Fatty acid methyl esters (FAMEs) were obtained by transmethylation of yeast cell sediments with 0.5M sulphu-ric acid in methanol containing 2% (v/v) dimethoxypropane

at 80Cfor 1 h FAMEs were extracted in petroleum ether and analysed by gas-liquid chromatography (GLC) using a Hewlett-Packard 6850 gas chromatograph (Hewlett-Pac-kard, Palo Alto, CA, USA) equipped with a polar capillary column (ZB-Wax, 30 m· 0.32 mm internal diameter, 0.25 lm film, Torrance, CA, USA) and a flame-ionization detector (FID) Data were processed using the HP Chem Station Rev A06.03 FAMEs were identified by compar-ison with appropriate reference subtances or by GLC-MS of FAMEs and 4,4-dimethyloxazoline derivatives as described previously [29]

R E S U L T S Isolation of two fatty acid desaturase-like cDNA clones Two full length clones encoding putative fatty acid desat-urases were isolated from the P tricornutum cDNA library using a combination of PCR amplification, mass sequencing and library screening as described in the Materials and methods The first clone was 1689 bp and contained an ORF of 1434 bp coding for a polypeptide of 477 amino acids This polypeptide showed high sequence homologies

to various D6-desaturases It was, for example, 43% identical (59% similar) to the D6-desaturase from Pythium irregulare (GenBank accession number AAL13310) and 37% identical (53% similar) to the D6-desaturase from Mortierella alpina[30] Accordingly, this clone was anno-tated PtD6 (for P tricornutum delta 6-desaturase) The second clone was 1672 bp and contained an ORF of

1410 bp coding for a polypeptide of 469 amino acids; it had

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highest sequence similarities to the two D5-fatty acid

desaturases recently cloned from Dictyostelium discoideum

For example, it was 21% identical (39% similar) to the

second D5-desaturase from D discoideum [31] This clone

was consequently annotated PtD5

Protein domains

Figure 2 shows the amino acid sequences of the proteins

encoded by PtD5 and PtD6 (PtD5p and PtD6p,

respect-ively) Both proteins contain the three conserved histidine

clusters characteristic for all membrane-bound desaturases

[24] They also contain a cytochrome b5domain fused at the

N-terminus and an H to Q substitution in the third

histidine-box, both of these features being typical of

front-end desaturases [32] Hydrophobic plots have indicated the

presence of several long hydrophobic stretches and the four

potential transmembrane helices fitting to the topological

model developed for membrane-bound desaturases by

Shanklin et al [33] are shown In good agreement with this

model, the program developed by Nakai & Horton for

prediction of cellular localization [34] indicated that both

proteins were localized in the endoplasmic reticulum, although no di-lysine retention signal was present in the sequences

Figure 2 also shows the amino acid sequence of the free cytochrome b5(PtCytb5), which was obtained in full length from the mass sequencing Whereas the cytochrome b5 domain of PtD6p contains the eight invariant amino acids

of the cytochrome b5superfamily (Fig 2, dots; [35]), PtD5p has two substitutions (W to E and Y to F), with only the last one being conserved Such substitutions have in fact already been found for four of the eight conserved amino acids as only the HPGG cluster is systematically present in all the cytochrome b5domains of front-end desaturases cloned so far Another characteristic feature of the cytochrome b5 domain of fused desaturase was observed in P tricornutum The sequence of the free microsomal cytochrome b5 between the two highly conserved W and G (marked with arrows) contains 12 acidic amino acids (aspartate and glutamate), whereas the corresponding domain sequences in PtD5p and PtD6p have only eight and five acidic residues, respectively Such a decrease in the number of acidic amino acids in fused cytochrome b5domains has been observed in

Fig 2 Amino acid sequences of PtD5p and PtD6p For alignment the CLUSTAL X program was used (gap opening 12, gap extension 0.05) and the five highest BLAST scores of each desaturase (not shown) in order to obtain correct alignment of the histidine clusters The conserved amino acids are on black back-ground The eight amino acids which are usually conserved in the cytochrome b 5

superfamily are marked with dots, the three histidine boxes framed and the potential transmembrane domains underlined The sequence data published here have been submitted to the DDBJ/EMBL/GenBank sequence data bank with the accession number AY082392, AY082393 and AF503284 for PtD5p, PtD6p and PtCytb5, respectively.

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most front-end desaturases cloned so far and may be

correlated with the necessary close interaction between this

domain and the desaturase part [32]

Functional characterization inSaccharomyces cerevisiae

The activities of the proteins encoded by these two cDNAs

were confirmed by heterologous expression in S cerevisiae

The open reading frames of PtD6 and PtD5 were cloned in

the yeast expression vectors pVT102-U [26] and pESC-LEU

(Strategene), respectively, and these constructs and the

empty vectors were transformed into the S cerevisiae strain

C13ABYS86 [27] Expression were carried out for 48 h at

20Cin the presence of the potential substrates for D6- or

D5-fatty acid desaturases, 18:2D9,12and 20:3D8,11,14,

respect-ively In the presence of the empty vector pVT102-U and

500 lMlinoleic acid, only the endogenous yeast fatty acids

and the additional substrate could be detected indicating

that yeast did not metabolize the exogenously added fatty

acid (Fig 3A) In contrast, in the yeast containing

pVT102-U-PtD6, a new fatty acid corresponding to c-linolenic acid

(18:3D6,9,12) was detected The structure of this fatty acid was

confirmed by GLC-MS analyses demonstrating that PtD6p

was a D6-desaturase In pVT102-U, the expression of PtD6

was under the control of a constitutive promoter (PADH)

which resulted in a high desaturation of linoleic acid (25–

30%) When PtD5p was expressed in the presence of

20:3D8,11,14, a peak corresponding to arachidonic acid

(ARA, 20:4D5,8,11,14) was detected (Fig 3B) The structure

was confirmed by GLC-MS analyses, demonstrating that

PtD5p was a D5-desaturase

Specificity ofPhaeodactylum tricornutum front-end

desaturases

The substrate specificity of each desaturase was

subse-quently determined in the same transgenic yeast using

different potential substrates (Table 1) The favourite

sub-strate of PtD6p was linoleic acid, but a-linolenic acid

(18:3D9,12,15) was converted to stearidonic acid (18:4D6,9,12,15)

with similar efficiency In the absence of exogenously fed

fatty acids, 5–6% of the endogenous monounsaturated fatty

acids of yeast were desaturated (16:1D9to 16:2D6,9and 18:1D9

to 18:2D6,9), similar to the D6-desaturases from P patens

[19] and M alpina [17] In order to check if PtD6p could

also be responsible for the D8-desaturation activity involved

in the alternative x3-pathway (see Fig 1), similar to the

bifunctional (D5/D6) fatty acid desaturase recently cloned

from zebrafish [36], 20:3D11,14,17was assayed as a potential

substrate No conversion of this substrate could be detected indicating that PtD6p did not display any D8-desaturase activity (Table 1) The highest activity of PtD5p was obtained with 20:3D8,11,14as substrate (24,7% conversion), but PtD5p was also active with both 20:2D11,14 and 20:3D11,14,17, as it has already been reported for the D5-desaturase from C elegans [37] PtD5p also showed low activities with 20:1D11and vaccenic acid (18:1D11), but

no activity was detected with 20:1D8(Table 1) or with oleic, linoleic and a-linolenic acid (data not shown)

Reconstitution of PUFA biosynthetic pathways

inSaccharomyces cerevisiae Using the two front-end desaturases from P tricornutum and Pse1p, the D6-specific elongase from P patens [20], the possibility of reconstituting the biosynthetic pathways of arachidonic and eicosapentaenoic acid in yeast was inves-tigated Pse1p was used as it allows the synthesis of 20:3D8,11,14 and 20:4D8,11,14,17 from 18:3D6,9,12 and 18:4D6,9,12,15, respectively [20] When PtD5p was coexpressed with Pse1p in the presence of c-linolenic acid, 20:3D8,11,14

and ARA were synthesized (Fig 4A) About 50% of 18:3D6,9,12was elongated by Pse1p and 15% of the resulting 20:3D8,11,14was converted to 20:4D5,8,11,14by PtD5p Simi-larly, when 18:4D6,9,12,15was exogenously fed, 20:4D8,11,14,17

Fig 3 Fatty acid profiles of yeast transformed

with pVT102-U-PtD6 (A) or pESC-LEU-PtD5

(B) C13ABYS86 yeast strain transformed

with either the empty vector (dashed line) or

the different constructs (full line) was

supple-mented with different fatty acids (A, 500 l M

18:2D9,12; B, 500 l M 20:3D8,11,14) and grown for

48 h at 20 C FAMEs from the whole cells

were prepared and analysed by GLCas

indi-cated under Material and methods.

Table 1 Substrate specificity of PtD5p and PtD6p expressed in Sac-charomyces cerevisiae Yeast strain C13ABYS86 was transformed with the different constructs (pESC-LEU-PtD5 or pVT102-U-PtD6) and grown for 48 h at 20 Cin the presence of different fatty acid substrates (500 l M or as indicated) FAMEs from the whole cells were prepared and analysed by GLCas indicated under Material and methods Desaturation (%) was calculated as (product · 100)/(educt + prod-uct) using values corresponding to percent of total fatty acids Each value is the mean ± SD from three to five independent experiments.

Substrate Desaturation Substrate Desaturation 18:1D11 2.0 ± 0.2 16:1D9 a 5.7 ± 0.6

20:1 D11 b 3.7 ± 0.7 18:2 D9,12 27.8 ± 3.6 20:2D11,14 b 11.8 ± 1.0 18:3D9,12,15 26.7 ± 3.3 20:3D11,14,17 10.8 ± 0.3

20:3 D8,11,14 24.7 ± 3.3 20:3 D8,11,14 0

a

In the absence of exogenously fed fatty acid.bIn the presence of

1 m M exogenously fed fatty acid.

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and EPA were detected (Fig 4B) In the presence of

a-linolenic acid (18:3D9,12,15), the yeast containing the three

heterologous genes synthesized 18:4D6,9,12,15, 20:3D11,14,17,

20:4D8,11,14,17and 20:5D5,811,14,17(EPA, Table 2) The

pres-ence of 20:3D11,14,17 resulted from the elongation of

18:3D9,12,15by Pse1p Although the activity of Pse1p upon

18:3D9,12,15 is usually low, the high proportion of the

exogenously fed a-linolenic acid in the medium lead to a

significant production of 20:3D11,14,17(Table 2) In addition

to the unexpected synthesis of this fatty acid, traces of

16:2D6,9, 18:2D6,9and 20:4D5,11,14,17were detected (data not

shown), in agreement with the specificities of both

desatu-rases (Table 1) EPA was present and accumulated up to

0.23% of the total fatty acids, confirming that its complete

biosynthetic pathway from a-linolenic acid, involving

D6-desaturation, D6-elongation and D5-desaturation

(x3-pathway), had been successfully reconstituted About

16% of 18:3D9,12,15was converted by PtD6p, 24% of the

resulting 18:4D6,9,12,15 was then elongated by Pse1p and

about 14% of the elongated product was finally desaturated

to EPA by PtD5p When 18:2 was the exogenously fed

substrate, the synthesis of arachidonic acid (20:4D5,8,11,14)

was achieved, confirming that the three proteins were also

active in the x6-pathway (Table 2) PtD6p converted about 23% of 18:2D9,12to c-linolenic acid, Pse1p elongated 14% of 18:3D6,9,12 to 20:3D8,11,14 and finally, PtD5p desaturated about 10% of the elongated product to ARA Arachidonic acid represented 0.16% of the total fatty acids (Table 2) and, similar to the results obtained with the reconstitution of the EPA biosynthetic pathway, several side-products (20:2D11,14 and traces of 16:2D6,9, 18:2D6,9and 20:3D5,11,14) were present in the fatty acid profiles (data not shown)

Selectivity ofPhaeodactylum tricornutum front-end desaturases

In order to evaluate if EPA was preferentially synthesized in

P tricornutumthrough the x6- or x3-pathway, the select-ivity of both front-end desaturases was investigated In the x6-pathway, the D6-fatty acid desaturase acts on 18:2D9,12 before the action of the D6-elongase followed by D5- and x3-desaturases, whereas in the x3-pathway, the D6-desat-urase converts the product of the x3-desatD6-desat-urase, 18:3D9,12,15,

to 18:4D6,9,12,15 (see Fig 1) The selectivity of PtD6p was assayed in the presence of 125 lM of both 18:2D9,12and 18:3D9,12,15 so that the four potential substrates of PtD6p

Fig 4 Fatty acid profiles of yeast transformed with pESC-LEU-PSE1-PtD5 C13ABYS86 yeast strain transformed with either the empty vector (dashed line) or pESC-LEU-PSE1-PtD5 (full line) was supplemented with

500 l M 18:3D6,9,12(A) or 18:4D6,9,12,15(B) and grown for 48 h at 20 C FAMEs from the whole cells were prepared and analysed

by GLCas indicated under Material and methods.

Table 2 Reconstitution of pathways for EPA and ARA biosynthesis in yeast C13ABYS86 yeast strain was transformed with pVT102-U-PtD6 and pESC-LEU-PSE1-PtD5 or the corresponding empty vectors The transformants were grown for 96 h at 20 Cin the presence of 250 l M 18:3 D9,12,15

or 18:2D9,12 FAMEs from the whole cells were prepared and analysed by GLCas indicated under Material and methods Each value corresponds

to the percent of total fatty acids and is the mean ± SD from three independent experiments.

18:3 D9,12,15 exogenously supplied 18:2 D9,12 exogenously supplied Fatty

acid

Empty vectors

PtD6 + PSE1 + PtD5

Empty vectors

PtD6 + PSE1 + PtD5

18:3 D9,12,15 42.6 ± 1.2 36.7 ± 1.9 – –

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(16:1D9, 18:1D9, 18:2D9,12 and 18:3D9,12,15, Table 1) were

present in similar proportions (Fig 5A) PtD6p desaturated

the intermediates of the x3- and x6-pathway, 18:3D9,12,15

and 18:2D9,12, respectively, with similar efficiency At the

same time, it was also active on the monounsaturated fatty

acids (16:1D9and 18:1D9) Interestingly, the conversions of

the four potential substrates by PtD6p observed in this

experiment (6.3, 5.8, 33.5 and 25.6% for 16:1D9, 18:1D9,

18:2D9,12 and 18:3D9,12,15, respectively) were very close to

those obtained when feeding a single substrate (see Table 1)

Therefore, PtD6p showed much higher activities towards

the dienoic and trienoic intermediates of PUFA biosynthesis

than towards the monounsaturated fatty acids, but it was

not confined to either the classical x6- or x3-pathway

The D5-fatty acid desaturase is the last enzyme involved

in the x3-pathway, converting 20:4D8,11,14,17 to EPA,

whereas in the x6-pathway, it converts 20:3D8,11,14 to

20:4D5,8,11,14 before an x3-desaturase synthesizes

20:5D5,8,11,14,17(see Fig 1) To check the activity of PtD5p

on both substrates, PtD5p was coexpressed with the

elongase Pse1p in the presence of both c-linolenic acid

and stearidonic acid (Fig 5B) Pse1p activity led to the

synthesis of 20:3D8,11,14 and 20:4D8,11,14,17, both of them

being further desaturated by PtD5p In good agreement

with Zank et al [20], the elongase displayed no selectivity

when facing two of its favourite substrates Fifty percent of

18:3D6,9,12and 45% of 18:4D6,9,12,15were elongated by Pse1p,

which is nearly identical to the data obtained upon feeding

the substrates separately [20] Similarly, PtD5p did not show

any preference for 20:3D8,11,14 or 20:4D8,11,14,17, as about

15% of each elongation product was desaturated

Conse-quently, like PtD6p, the D5-fatty acid desaturase from

P tricornutum has no preference for the x6- or the

x3-pathway These experiments confirmed that both

front-end desaturases were acting simultaneously in the

x3- and x6-pathway because they accept every potential

substrate encountered

When experiments similar to those reported in Fig 5

were conducted with the D5-desaturases from M alpina or

other D6-desaturases (from M alpina, Homo sapiens,

Borago officinalis, Ceratodon purpureus and P patens), none

of these front-end desaturases was specific for the x3- or the

x6-fatty acids (data not shown) Although these desaturases

differed in their level of activity and in substrate preference,

all the D5- and D6-desaturases tested showed similar

activities towards the two substrates provided

simulta-neously (20:3D8,11,14 and 20:4D8,11,14,17 or 18:2D9,12 and

18:3D9,12,15, respectively) These results concerning the

selectivity of front-end desaturases suggest that such enzymes are in general not specifically restricted to one of the two classical x3- or x6-pathways as depicted in Fig 1 but that the same enzymes are involved in both routes

D I S C U S S I O N

In the present study, we report the cloning and functional characterization of a D5- and a D6-fatty acid desaturase from P tricornutum Both contain the typical features of membrane-bound desaturases and a cytochrome b5domain fused to their N-terminal extremity (Fig 2), similar to other front-end desaturases with the exception of those from cyanobacteria [32,33] Such fused domains are also found at the C-terminal end of some D9-desaturases and in several hydroxylases, sulfite oxidases and nitrate reductases, all these proteins being members of the cytochrome b5 super-family [38] It should be noted that in a phylogenetic tree with the D5- and D6-desaturases from various organisms, PtD5p and PtD6p fell into different branches like the front-end desaturases from M alpina, whereas in the case of

C elegans or man, each pair of front-end desaturases formed a separate branch (data not shown) This may indi-cate that the D5- and D6-desaturases from P tricornutum and M alpina have evolved separately a long time ago while

a common ancestor has been functioning for a longer time

in the case of man and C elegans

Heterologous expression in S cerevisiae was used to confirm the D5- and D6-regioselectivity of PtD5p and PtD6p, respectively (Fig 3), and to determine each sub-strate specificity (Table 1) PtD6p desaturated 25–30% of both 18:2D9,12and 18:3D9,12,15(Table 1), while PtD5p was as active on 20:4D8,11,14,17as on 20:3D8,11,14when coexpressed with the D6-elongase from P patens, Pse1p (Fig 4) These specificities fit perfectly with their involvement in EPA biosynthesis Because their coexpression with Pse1p in the presence of 18:2D9,12or 18:3D9,12,15led to the synthesis of ARA or EPA (Table 2), respectively, PtD5p and PtD6p can function in both the x3- and x6-pathway Concerning selectivity, it was shown that neither PtD5p nor PtD6p showed any preference for x3- or x6-fatty acids (Fig 5) Moreover, each desaturase displayed similar activities towards the different substrates, when they were provided

in a mixture or fed as a single substrate As corresponding results were obtained with several D5- and D6-desaturases from different organisms, indiscriminate use of x3- and x6-fatty acids may be a general feature of front-end desaturases

Fig 5 Fatty acid profiles of yeast transformed

with pVT102-U-PtD6 (A) or

pESC-LEU-PSE1-PtD5 (B) C13ABYS86 yeast strain

transformed with either the empty vector

(dashed line) or the different constructs (full

line) was supplemented with different fatty

acids (A, 100 l M 18:2D9,12and 100 l M

18:3D9,12,15; B, 250 l M 18:3D6,9,12and 250 l M

18:4 D6,9,12,15 ) and grown for 48 h at 20 C.

FAMEs from the whole cells were prepared

and analysed by GLCas indicated under

Material and methods.

Trang 8

The results presented in Fig 5B also show that the

D6-elongase converted equally well 18:3D6,9,12and 18:4D6,9,12,15

The fact that the presence or absence of an x3-double bond

has no effect on front-end desaturase and elongase activities

may be correlated with the regiochemistry of the reactions

catalysed Such enzymes are acting at the carboxyl end of

the molecule, whereas the structural difference between

x3-or x6-fatty acids resides in the methyl end Accx3-ordingly, it is

probable that neither the positioning of the substrate in the

reaction center nor the catalysis is affected by the presence

of an x3-double bond In this regard, the recent

demon-stration that the human D6-desaturase is not only active on

18:2D9,12and 18:3D9,12,15 but as well on 24:4D9,12,15,18 and

24:5D9,12,15,18,21[39] suggests that front-end desaturases may

tolerate some differences at the methyl end of their

substrates and only require an appropriate carboxylic end,

where the new double bond is to be inserted It should be

noted that the inverse situation was demonstrated in the

case of x3-desaturases Expression of the x3-desaturases

from Brassica napus and C elegans (FAT-1) in yeast clearly

showed that both were insensitive to the fatty acid chain

length and to the presence of double bonds proximal to the

carboxyl end [40,41] Similarly, a very low selectivity was

demonstrated for the x3-desaturase FAT-1 as this

desatur-ase expressed in mammalian cells converted almost all

x6-fatty acids to the corresponding x3-fatty acids

(18:2D9,12 to 18:3D9,12,15, 20:2D11,14 to 20:3D11,14,17,

20:3D8,11,14 to 20:4D8,11,14,17, ARA to EPA and even

22:4D7,10,13,16to 22:5D7,10,13,16,19[42])

In P tricornutum, the different intermediates of the EPA

biosynthetic pathway are only present in trace amounts,

suggesting that P tricornutum has developed highly efficient

mechanisms to achieve this specific fatty acid composition

Using in vivo labelling techniques, Arao & Yamada [22]

showed that four different routes led to the synthesis of EPA

in P tricornutum and that the preferred route relied on

intermediates of both the x6- and the x3-pathway (see

Fig 1) The results presented in Table 2 show that PtD5p

and PtD6p are involved in both pathways and they support

the preferred route, as the activity of PtD6p is higher with

18:2D9,12than with 18:3D9,12,15and that of PtD5p higher

with 20:4D8,11,14,17 than with 20:3D8,11,14 Nevertheless, the

substrate specificities and selectivities of PtD5p and PtD6p

cannot account for the nearly exclusive accumulation of

EPA observed in P tricornutum Moreover, and in good

agreement with Beaudoin et al [43], the synthesis of side

products suggests that all the enzymes involved in PUFAs

biosynthesis are rather unspecific and modify all the

different fatty acids they encounter (Table 2 and Fig 5)

Because of the relative insensitivity of front-end desaturases

and elongases to the presence of an x3-double bond and of

x3-desaturases to the structure of the carboxyl end of the

fatty acids, the existence of separate x3- and x6-pathways as

depicted in Fig 1 becomes questionable The results

presented here on front-end desaturases together with those

concerning x3-desaturase [42] and D6-elongase [20] are all in

favour of a scenario in which the same enzymes are

contributing to both pathways, which in fact do not exist

separately under these conditions As the activities of the

enzymes modifying the carboxyl end (D5- and

D6-desatu-rases and D6-elongase) and the methyl end of PUFAs

(x3-desaturase) do not depend on the structure of the opposite

end of the substrate, it is more likely that these enzymes act

simultaneously at several steps of interconnected pathways The resulting complex reaction network makes it impossible

to separate an x6- from an x3-pathway as the x3-desatur-ase is pulling all the intermediates into the x3-pathway when simultaneously, the front-end desaturases and elongase are pushing towards the end-product Accordingly, if these enzymes are expressed simultaneously in the same cellular compartment, it may not be appropriate to divide such a complex reaction network into separate x6- and x3-path-ways as depicted in Fig 1

To conclude, we have cloned and functionally charac-terized a D5- and a D6-fatty acid desaturase involved in EPA biosynthesis In addition, several lines of evidence presented in this study strongly suggest that front-end desaturases are not specific for the desaturation of a single fatty acid in a straight biosynthetic pathway but that they rather act simultaneously in both the x3- and x6-pathway and on other potential substrates This low specificity leads in yeast to the synthesis of undesirable side-products, which implies that the organisms accumulating a single PUFA like P tricornutum have developed highly effective strategies to channel all biosynthetic intermediates towards the accumulation of a single end-product In view of these results, elucidating and understanding the regulatory mechanisms leading to these highly selective accumula-tions becomes a clear prerequisite in order to implement PUFA biosynthesis in oilseed crops such as linseed or rapeseed

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

This research has been supported by a Marie Curie Fellowship of the European Community programme Human Potential under the contract number HPMF-CT-1999-00148 We thank Dr T K Zank for providing the pY2PSE1 clone and BASF Plant Science GmbH (Ludwigshafen, Germany) for providing the k-ZAP Express library and for performing the random sequencing.

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