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Báo cáo khoa học: Structural and functional evidence for a singular repertoire of BMP receptor signal transducing proteins in the lophotrochozoan Crassostrea gigas suggests a shared ancestral BMP/activin pathway docx

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The use of the zebrafish embryo as a reporter organism revealed that Cg-BMPR1, Cg-TGFbsfR2, Cg-ALR I, an activin Type I receptor or their dominant negative acting truncated forms, when ov

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repertoire of BMP receptor signal transducing proteins in the lophotrochozoan Crassostrea gigas suggests a shared ancestral BMP/activin pathway

Amaury Herpin1,2, Christophe Lelong2, Thomas Becker1, Frederic Rosa3, Pascal Favrel2

and Charles Cunningham1

1 Sars International Centre for Marine Molecular Biology, High Technology Centre, Bergen, Norway

2 Laboratoire de Biologie et Biotechnologies Marines, IBFA, Universite´ de Caen Basse-Normandie, IFREMER UMR 100, Physiologie et Ecophysiologie des mollusques marins, Caen, France

3 U 368 INSERM, Ecole Normale Supe´rieure, Paris, France

The genes governing mesoderm specification have been

extensively studied in vertebrates, arthropods and

nem-atodes The latter two phyla belong to the ecdysozoan

clade but little is understood of these molecules in the

other major protostomal clade, the lophotrochozoa

An increasing amount of comparative data from ecdysozoans as well as from vertebrates suggests that many of the proteins involved in mesodermal

Keywords

Crassostrea gigas; zebrafish; BMP;

TGF-beta; early embyogenesis

Correspondence

A Herpin, University of Wuerzburg,

Physiological Chemistry I, Am Hubland,

97074 Wuerzburg, Germany

Fax: +49 931888 4150

Tel: +49 931888 4165

E-mail: amaury.herpin@biozentrum.

uni-wuerzburg.de

(Received 15 April 2005, accepted 12 May

2005)

doi:10.1111/j.1742-4658.2005.04761.x

The transforming growth factor b (TGF-b) superfamily includes bone mor-phogenetic proteins, activins and TGF-b sensu stricto (s.s) These ligands, which transduce their signal through a heteromeric complex of type I and type II receptors, have been shown to play a key role in numerous biologi-cal processes including early embryonic development in both deuterostomes and ecdyzozoans Lophochotrozoans, the third major group of bilaterian animals, have remained in the background of the molecular survey of metazoan development We report the cloning and functional study of the central part of the BMP pathway machinery in the bivalve mollusc Cras-sostrea gigas(Cg-BMPR1 type I receptor and Cg-TGFbsfR2 type II recep-tor), showing an unusual functional mode of signal transduction for this superfamily The use of the zebrafish embryo as a reporter organism revealed that Cg-BMPR1, Cg-TGFbsfR2, Cg-ALR I, an activin Type I receptor or their dominant negative acting truncated forms, when over-expressed during gastrulation, resulted in a range of phenotypes displaying severe disturbance of anterioposterior patterning, due to strong modula-tions of ventrolateral mesoderm patterning The results suggest that Cg-BMPR1, and to a certain degree Cg-TGFbsfR2 proteins, function in

C gigas in a similar way to their zebrafish orthologues Finally, based on phylogenetic analyses, we propose an evolutionary model within the com-plete TGF-b superfamily Thus, evidence provided by this study argues for

a possible conserved endomesoderm⁄ ectomesoderm inductive mechanism in spiralians through an ancestral BMP⁄ activin pathway in which the singu-lar, promiscuous and probably unique Cg-TGFbsfR2 would be the shared type II receptor interface for both BMP and activin ligands

Abbreviations

BMP, bone morphogenetic protein; BMPR2, type II BMP receptors; TGF-b, transforming growth factor b.

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patterning are highly conserved with respect to both

structure and function, regardless of diversity and

evo-lution of body plans [1–5]

The transforming growth factor b (TGF-b)

super-family, which includes bone morphogenetic proteins

(BMPs), activin and activin-like proteins such as nodal

and their receptors, has been implicated in multiple

processes during animal development Members of the

TGF-b superfamily transduce signals through

hetero-meric complexes of ligand specific type I and II

ser-ine⁄ threonine kinase receptors [6] Type II receptors

are capable of binding ligand dimers alone, while type

I receptors can only bind ligands in cooperation with

type II receptors Ligand binding induces the

forma-tion of a heterotetracomplex in which the two type II

receptors unidirectionally transphosphorylate a dimer

of type I receptors Activated type I receptors in turn

catalyse the phosphorylation of receptor substrates,

the Smads Smad family members were originally

iden-tified through genetic screens in flies (mad Drosophila

mutants) and worms (sma Caenorhabditis mutants)

These move to the nucleus to associate with

transcrip-tional coactivators and regulate the transcription of

target genes [7] While this pathway is conserved for

most TGF-b superfamily ligands, including BMPs and

activin, nodal binds the activin specific type I receptor

and the cripto coreceptor to stimulate downstream

responses [8,9] In the absence of cripto, the type I

act-ivin receptor can mediate signal transduction

stimula-ted by activin but not nodal Mutations in the gene

encoding the mouse type IB activin receptor, ActRIB,

as well as the ActRIIA⁄ ActRIIB double mutants,

dis-play gastrulation defective phenotypes resembling

those of mouse nodal mutants [10–12]

In Drosophila, decapentaplegic (DPP), screw and a

third BMP ligand Gbb appear to share a common set

of receptors that include the type II receptor punt and

the type I receptors thick veins and saxophone

(reviewed in [13]) The activin type I receptor baboon

also signals in conjunction with punt, though the

acti-vin pathway appears to have little influence on

pattern-ing [14] While punt appears most closely related to the

vertebrate type II activin receptors, another receptor

(wishful thinking) has been identified that is

homolog-ous to the vertebrate type II BMP receptors (BMPR2)

Vertebrate BMPR2 receptors are the only ones that

bind BMP ligands exclusively, and in Drosophila

phe-notypes arising from mutations in the gene encoding

wishful thinking, wit, suggest a role for this protein in

synapse regulation and⁄ or maintenance [15,16]

As part of an ongoing project to understand the role

of the TGF-b superfamily ligands, their receptors and

signal transduction pathways in the lophotrochozoan

bivalve mollusc Crassotrea gigas, we report the cloning and functional study of the central part of the BMP pathway (the Cg-BMPR1 type I receptor and Cg-TGFbsfR2 type II receptor) This shows probably the most ancestral and unusual functional mode of sig-nal transduction for this superfamily, with a duplicate extracellular ligand binding domain TGFbsfR2 type II homologous receptor displaying a unique extracellular structure Because technical limitations relative to our model make direct functional studies difficult, we have tested whether Cg-BMPR1 and Cg-TGFbsfR2 mole-cules can function in the context of a vertebrate TGF-b superfamily signalling pathway by overexpressing them during zebrafish early embryogenesis The molecular nature of dorsoventral and anteroposterior patterning

in molluscs is discussed, in the context of Cg-BMPR1 and Cg-TGFbsfR2 expression patterns during C gigas early development

One piece of evidence from this study suggests that the molecular mechanisms controlling mesodermal pat-terning across all bilateria may be conserved through a complete, original and functional BMP⁄ activin path-way in lophotrochozoans, for which a singular and promiscuous type II receptor would be the shared interface for both BMP and activin ligands

Results

Type I and II TGFb superfamily receptor ortho-logues from C gigas

Four full length cDNA clones were obtained that encode orthologues of three type I and one type II TGFb superfamily receptor(s) from the oyster C gigas Clones encoding a type 1 activin-like receptor (Cg-ALR1: accession number AJ309316) as well as a TGFb sensu stricto type I-like receptor (Cg-TGFbR1: accession number CAD66433) have been described previously [17,18] These clones will not be discussed

in detail here, apart from within the phylogenetic and functional (Cg-ALR1) analyses of the receptor family The characteristics of the two remaining cDNA clones and the proteins their sequences infer are discussed below

A full length 1907 base pair cDNA clone containing

an open reading frame encoding 534 amino acids was isolated from a C gigas mantle edge library The pre-dicted protein contained a number of features charac-teristic of BMP type 1 receptors [19] The protein, named Cg-BMPR1, comprises a leader peptide, an extracellular domain containing 10 cysteines whose positions are conserved in comparison to those of vertebrate BMP type I receptors, and a CCX(5)CN

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cysteine knot preceding the transmembrane region

(Fig 1A) A glycine-serine domain (GS box) did not

follow the canonical SGSGSGLP consensus sequence

but rather was encoded by a SSGCGSGPP motif The

remaining intracellular catalytic domains are highly

conserved Membership of Cg-BMPR1 to the BMP

type 1 receptor subfamily is clearly established by the

sequence of the L45 loop kinase domain The

Cg-BMPR1 L45 loop sequence differs from the

canon-ical sequence (ASDIKGT⁄ NGSW) by only a single

residue (underlined) This motif plays an important

role across phyla in determining the specificity of type

I receptors for Smad proteins [20] The gene and

inferred protein sequence of Cg-BMPR1 has been

lodged in the GenBank database with the accession

number AJ577293

The second full length cDNA clone encoded a

pro-tein with an expected length of 1174 amino acids The

inferred protein sequence bore most resemblance to

TGF-b superfamily type 2 receptors and was thus

named Cg-TGFbsfR2 Interestingly, the extracellular

domain of Cg-TGFbsfR2 is structurally divergent from

all other type II receptors that have been described

previously Uniquely, it contains two extracellular

domains that we have named C1 and C2 C1 defines

the domain closest to the amino terminal end and C2

defines the domain closest to the cell membrane A

comparison of the inferred amino acid sequence of the

C1 and C2 domains reveals that only the approximate

spacing of the 10 cysteine residues is conserved

(Fig 1B) Both domains contain a typical BMP⁄ activin

type II receptor CCCX(4)CN cysteine knot at their

N-terminal ends (Fig 1B) Phylogenetic analyses

com-paring the extracellular domains of BMP⁄ activin type

II receptors, C gigas C1 and C2 regions, as well as

sequences from sponge receptors for which such

extra-cellular dupli⁄ triplications are observed, showed that

Cg-TGFbsfR2 C1 and C2 domains were not clustering

together but were branching at the root defining BMP

and activin type II receptor clades (Fig 2A) This

characteristic was also shared with the duplicated

domains of the sponge Ephydatia fluviatilis ALK-6

type II receptor (Fig 2A) The C1 and C2 domains

were not directly adjacent but were joined by a linker

sequence The intracellular kinase domain conforms to

the canonical sequence of serine⁄ threonine protein

kin-ase domains seen for these receptors, and exhibits a

singularly long C-terminal extension similar to many

BMP type 2 receptors [21]

A more general phylogenetic tree was generated

using a conserved kinase cytoplasmic protein sequence

of all four C gigas receptors together with selected

protostome and deuterostome TGF-b superfamily

receptor orthologues (Fig 2B) BMPR1 and Cg-TGFbsfR2 cluster reliably with BMP type I and II receptors, respectively, and are closely associated with the Drosophila orthologues thick vein and wishful think-ing, respectively Cg-ALR1 and Cg-TGFbR1 were most closely related to activin and TGF-b type I recep-tors, respectively

The intron–exon organization of the genes encoding Cg-BMPR1 and Cg-TGFbsfR2 is shown in Fig 2C The serine⁄ threonine kinase domain in both proteins is encoded by two exons equivalent to kinase subdomains

X and XI [22] In addition, the GS box and L45 loop

of Cg-BMPR1, as well as the C-terminal extension

of Cg-TGFbsfR2, are encoded by unique exons The C1 and C2 domains of the extracellular region of Cg-TGFbsfR2 are each encoded by one or two exons Interestingly these two domains are separated by a short linker encoded by its own exon (Figs 1B and 2B) Both genes show high levels of phase conservation

in comparison to other oyster TGFb superfamily re-ceptors as well as orthologous rere-ceptors from other species (data not shown)

Expression patterns of Cg-BMPR1 and Cg-TGFbsfR2 in adult tissues, during early embryogenesis and larval development The early origin and high degree of conservation of TGF-b signalling protein orthologues during animal evolution from radiata to highly evolved bilateria sug-gest that they are involved in key biological processes common to most metazoans [23] To gain insight into

a possible physiological role of Cg-BMPR1 and Cg-TGFbsfR2, temporal gene expression patterns in early larval developmental stages and adult tissues were investigated using real time quantitative PCR (Fig 3) mRNAs from adult tissues (haemocytes, man-tle edge, adductor muscle, digestive tract, gills, heart and labial palp) including female gonads (oocytes), and from various stages of embryonic and larval devel-opment (blastula, gastrula, trochophore larvae, D lar-vae, 7 and 14 days post fertilization larlar-vae, pediveliger larvae and metamorphosing larvae) were used as sam-ples Although Cg-BMPR1 and Cg-TGFbsfR2 tran-scripts were ubiquitously expressed at reasonable levels

in all adult tissues, interestingly Cg-BMPR1 transcripts were always expressed about 10-fold more than Cg-TGFbsfR2 basal levels (respectively around 0.1 and 0.01 copies per 1 copy of GAPDH; Fig 3B) Remark-ably, this propensity is even more pronounced (up to

100 fold) when considering embryonic and larval development (Fig 3A) Then, Cg-BMPR1 was around 10-fold more expressed during early development

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B

Fig 1 Deduced amino acid sequence of

Cg-BMPR1 and Cg-TGFbsfR2 (A) The

implied amino acid sequence of Cg-BMPR1

contains a leader peptide shown in italics.

Cysteine residues characteristic of the TGFb

superfamily type I receptors are in bold and

underlined, and the cysteine knot is boxed.

Also boxed are the transmembrane domain,

the ATP binding site, the L45 loop and the

serine ⁄ threonine kinase domain (B) The

implied amino acid sequence of

Cg-TGFbsfR2 contains a leader peptide

shown in italics Two extracellular domains

were present in Cg-TGFbsfR2 The first (C1)

contained 10 cysteine residues whose

spa-cing was characteristic of TGFb superfamily

type II receptors These are in bold and

underlined, and the cysteine knot is boxed.

The second extracellular domain (C2) also

contained 10 cysteines and these are also

shown in bold and the cysteine knot is

boxed The C1 and C2 domains appeared to

be joined by a ‘linker’ sequence Also boxed

are the transmembrane domain and the

serine ⁄ threonine kinase domain.

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Daf-1 C elegans

Crassostrea gigas C2 domain

ALK-6 E fluviatilis C2 domain

Crassostrea gigas C1 domain

Wit D melanogaster

Punt D melanogaster ActR-2b H sapiens ActR-2b D rerio ActR-2b C auratus BMPR-2 X laevis BMPR-2 H sapiens Daf-4 C elegans ALK-6 E fluviatilis C1 domain

ALK-4 E fluviatilis C1 domain ALK-4 E fluviatilis C2 domain

Activin

BMP

100

100 100 92

100 94

79

74

88 77

69 76

64

Daf-4 C elegans

ActR-2b D rerio ALK-6 E fluviatilis

ALK-1 E fluviatilis C32D5.2(actr) C elegans

Crassostrea gigas

Cg-BMPR-1 Crassostrea gigas

Wit D melanogaster

ALK-4 E fluviatilis

Cg-ALR1 Crassostrea gigas

Saxophone D melanogaster ALK-8 D rerio Acvrl-1 D rerio ALK-1 H sapiens Hr-BMPR H roretzi

Cg-TβR-1Crassostrea gigas

Baboon (AtR-I) D melanogaster

TβR1 H sapiens

TARAM D rerio STKR1 T rubripes Thick vein D melanogaster

Punt D melanogaster

TGFR B pahangi STPK A caninum

ALK-2 E fluviatilis

ActR-2b C auratus

TβR-II H sapiens

TβR-II G gallus

TβR-IIa X laevis

BMPR-2 X laevis BMPR-2 H sapiens ActR-2b H sapiens

Daf-1 C elegans

BMP-RIa H sapiens BMP-RIa D rerio BMP-RIb D rerio

Raf D melanogaster (out group) B-raf H sapiens (out group)

Activin

TGF-Activin

BMP

BMP

TGF-100 99

100

100 100

100

100

100

98 100

96

88

87 83

91 86 69

86

86 62

87 95 77

82 71

79

95 78

66 87

87

58 62

78

97

A

B

Fig 2.

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(1.2 Cg-BMPR1 copies for 1 of GAPDH in oocytes)

when compared to adult tissues Cg-BMPR1

expres-sion steadily dropped during early and larval

develop-ment After D larvae stage and up to metamorphosis,

expression levels returned to the basal adult state

(0.1–0.15 copies relative to GAPDH) Although

Cg-TGFbsfR2 transcripts were only detected at moderate

levels, two peaks of expression were observed, the first

during gastrulation and the second just before

meta-morphosis In all cases, Cg-TGFbsrR2 average

expres-sion level is around 10-fold lower than Cg-BMPR1

when referring to adult tissues

Cg-BMPR1 transduces a ventralizing signal

during zebrafish mesoderm induction

To determine whether Cg-BMPR1 and Cg-TGFbsfR2

are able to function in a manner similar to their

ortho-logues, we employed the zebrafish embryo as a ‘repor-ter organism’ Specifically, we wished to analyse how expression of these two molecules was able to perturb the TGFb superfamily ligand–receptor signalling path-way during zebrafish early development Examples of the range and severity of the phenotypes recorded in the following experiments are shown in Fig 4

Injection of 5–200 pg per embryo of full length Cg-BMPR1 transcript produced a range of ventralized embryos (Figs 4A and 5A) Whole mount in situ hybridization showed that tbx6 expression was expan-ded towards the dorsal part of the embryo while gsc expression was slightly reduced and not seen ectopi-cally (Fig 6B1–4) When mRNA encoding a truncated version of Cg-BMPR1 (DN-Cg-BMPR1) was injected,

a range of dorsalized embryos was observed at increas-ing concentrations (Figs 4B and 5B) The tbx6 and gsc expression patterns were congruent with these

observa-Cg-ALR1

(6Kb, 6 introns)

0 1 1 1 1 1 1

0 1

Cg-TGFβR1

(10,5Kb, 9 introns)

Cg-BMPR1

Cg-TGFβsfR2

(>15Kb, 9 introns)

0 1

0

Linker

GS Box

I

Extracellular Domain TM L45 loop

Domain

GS

1

TGF β type 1 receptor

prototype

C

Fig 2 (A) Phylogenetic relationship of the extracellular domain of TGFb superfamily type II receptors Sequences used for the alignment of extracellular parts were truncated to strictly embed the 10 conserved cysteines upstream of the characteristic activin ⁄ BMP cysteine knot CCCX(4)C Split duplicated extracellular domains are reported as C1 and C2 domains from the N-terminal part of the protein This tree was generated by using CLUSTAL X From this alignment a distance-based phylogenetic tree was constructed using the minimum evolution method

of the PAUP package The percentage recovery of the branch in 1000 bootstrap replications is indicated ActR2b Carassius auratus (ABB58749)Daf-1 Caenohabditis elegans (P20792), Daf-4 Caenohabditis elegans (P50488), Cg-TGFbsfR2 C gigas (CAD20574), ActR-2b Danio rerio (NP_571285), Punt Drosophila melanogaster (AAC41566), Wishful thinking D melanogaster (AAF60175), ALK-4 Ephydatia fluvatilis (AB026827), ALK-6 E fluvatilis (AB026829), ActR-2b Homo sapiens (NP_001097), BMPR-2 H sapiens (NP_001195), BMPR-2 Xenopus laevis (AAB39883) (B) Phylogenetic tree showing the relationship of Cg-ALR1, Cg-BMPR1, Cg-TGFbR1 and Cg-TGFbsfR2 to other TGFb superfamily ligand receptors This tree was generated by using the alignment in CLUSTAL X From this alignment a distance-based phylogenetic tree was constructed using the minimum evolution method of the PAUP package The percentage recovery of the branch in 1000 bootstrap repli-cations is indicated STPK Ancylostoma caninum (AAL06642), TGFR Brugia pahangi (ACC47801), C32D5.2(Actr) Caenohabditis ele-gans (NP_495271), Daf-1 Caenohabditis eleele-gans (P20792), Daf-4 Caenohabditis eleele-gans (P50488), ActR2b Carassius auratus (ABB58749), Cg-ALR1 Crassostrea gigas (AJ309316), Cg-TbR1 C gigas (AJ544074), Cg-BMPR1 C gigas (CAE11917), Cg-TGFbsf2 C gigas (CAD20574), ActR-2b Danio rerio (NP_571285), Acvrl-1 Danio rerio (AAM53074), ALK-8 Danio rerio (NP_571420), RIa Danio rerio (BAA32748), BMP-RIb Danio rerio (BAA76408), TARAM Danio rerio (NP_571065), Baboon (Atr-I) Drosophila melanogaster (A55921), Punt D melanogaster (AAC41566), Saxophone D melanogaster (I45712), Thick vein D melanogaster (XP_079689), Wishful thinking D melanogaster (AAF60175), ALK-1 Ephydatia fluvatilis (BAA82601), ALK-2 E fluvatilis (BAA82602), ALK-4 E fluvatilis (AB026827), ALK-6 E fluvatilis (AB026829), TbR-II Gallus gallus (I50429), HrBMPR Halocynthia roretzi (BAB87725), ActR-2b Homo sapiens (NP_001097), ALK-1 H sapiens (CAA80255), BMP-RIa H sapiens (NP_004320), BMPR-2 H sapiens (NP_001195), TbR1 H sapiens (P36897), TbR-II H sapiens (P37173), STKR1 Takifugu rubripes (AAC34382), BMPR-2 X laevis (AAB39883), TbR-IIa X laevis (AAG40577) Outgroups: Raf D melanogaster (X07181), B-raf H sap-iens (M95712) (C) Exon structure and domain organization of TGFb superfamily type I and II receptor genes The intron phase (0, 1 or 2) is indicated above each intron–exon boundary Boxes I, X and XI are representative of kinase subdomains [22] Extracellular and transmem-brane (TM) domains are also shown The L45 loop and the GS box are specific to type I receptors The type II receptor contains two extra-cellular domains (C1 and C2) joined by a linker sequence C1 and the linker are encoded by single exons, C2 by two exons.

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tions: tbx6 was considerably repressed while gsc was

up-regulated and ectopically expressed throughout the

embryo (Fig 6C1–4)

Expression of Cg-ALR1 results in both posterior

and anterior defects in zebrafish embryos

Expression of Cg-ALR1 resulted in a dose-dependent

range of anterior defects, including in some embryos a

lack of otic vesicles (Fig 7A,B) These defects were

always combined with mild posterior defects In

addi-tion, a significant fraction of the Cg-ALR1 injected

embryos (between 5 and 10% depending on the

mRNA concentration) displayed a bifida chordata

phenotype in combination with severe anterior defects

(Fig 7A,Bc) Cg-ALR1 expression resulted in an

expression of gsc in ventral regions of the embryo

(Fig 6D3,D4) The expression domain of tbx6 was

restricted to the ventral regions and fragmented at the

gastrula stage (Fig 6D1,D2)

When mRNA encoding a truncated version of

Cg-ALRI (DN-Cg-ALR1) was injected at a range of

2–400 pg per embryo, posterior structure defects were observed in a dose-dependent manner (Fig 7C,D) The tbx6 expression pattern was restricted to the ventral side (Fig 6E1,E2) while gsc expression in the dorsal mesoderm was almost completely abolished (Fig 6E3,E4)

Cg-TGFbsfR2 transduces a dorsalizing signal during zebrafish mesoderm induction When injected at concentrations of between 10 and

200 pg per embryo, Cg-TGFbsfR2 induced dorsaliza-tion in a concentradorsaliza-tion-dependent manner (Figs 4B and 8A) Expression of tbx6 was dramatically repres-sed, even if in some cases its expression at the mar-gin of the blastoderm was expanded (Fig 9A1,A2) Expression of gsc was clearly expanded in all cases (Fig 9A3,A4) mRNA encoding a truncated Cg-TGFbsfR2 (DN-Cg-Cg-TGFbsfR2) was generated by inserting a stop codon at the C-terminal side of the transmembrane domain This protein included both extracellular C1 and C2 domains as well as the

Cg-BMPR1

0

0.2

0.4

0.6

0.8

1.0

1.2

1.4

s t y O

a l u t s l B

a l u r s G e r o o r T

.

r a D f p

r e il e V

L f p 1

L r e il e V r e il e i d P

L

a t e M m

h r o o

L g i s

0 0.001 0.002 0.003 0.004 0.005 0.006 0.007

s t y O

a l u t s l B

a l u r s G e r o o r T

.

r a D

L r e il e V f

L r e il e V r e il e i d P

L

a t e M m h r o o

L g i s

0

0.05

0.1

0.15

0.2

0.25

Cg-BMPR1

0 0.005 0.01 0.015 0.02 0.025 0.03 0.035 0.04

A

B

Fig 3 Differential Cg-BMPRI and Cg-TGFbsfR2 expression patterns during early development (A) and in adult tissues (B) measured by real

time quantitative RT-PCR Each value is the mean ± SE of three animals (tissues) or the mean of a pool of embryos or larva (L) from one spawn ME, mantle edge; DG, digestive gland; LP, labial palps; PAM, posterior adductor muscle; G, gills; He, heart; H, haemocytes The rel-ative level of receptor expression was calculated for one copy of the GAPDH housekeeping gene by using the following formula: N ¼

1 · 2(Ct GAPDH – Ct target).

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transmembrane region Ectopic expression of this

protein led to phenotypes comparable to those

obtained after injection of truncated Cg-BMPR1

(Figs 8B and 4B) At concentrations of up to 100 pg

mRNA per embryo, the range of dorsalization

observed (Figs 4B and 8B) was comparable with that

obtained after Cg-TGFbsfR2 injection D4 and D5

phenotypes were observed solely with concentrations

of 200 pg mRNA per embryo (Figs 4B and 8B) As

was observed with full length Cg-TGFbsfR2 mRNA,

when the truncated protein was expressed tbx6 was

repressed even if in some cases its expression at

the margin of the blastoderm was expanded

(Fig 9B1,B2) In all cases gsc expression was clearly

expanded (Fig 9B3,B4)

The C1 and C2 domains of TGFbsfR2 have different ligand binding properties

Although the C1 binding domain of Cg-TGFbsfR2 clustered with its BMP type II Drosophila wit homo-logous receptor (Fig 2A), phylogenetic analyses suggested that both C1 and C2 were unspecified (Fig 2A) To clarify the binding properties of each of these domains we generated synthetic mRNA encoding only the C1 or C2 domains Expression of only the C1 domain resulted in the dorsalization of embryos in a concentration-dependent manner (Fig 8C) Similarly, tbx6 and gsc expression (Fig 9C1–4) were repressed and expanded, respectively, through dorso–ventral ter-ritories Although the majority of embryos expressing the C2 domain exhibited weakly dorsalized phenotypes (Figs 8D and 4C), a sizeable minority were weakly ventralized and showed the bifida chordata phenotype

in a manner similar to those obtained after Cg-Tolloid,

a C gigas Tolloid-like orthologue; (A Herpin et al., unpublished results), injections but with additional anterior defects It is not clear from the tbx6 and gsc expression patterns observed in these embryos whether they are dorsalized or ventralized (Fig 9D1–4)

Ventralized embryos

24 Hpf

A

Dorsalized embryos

24 Hpf

B

Fig 4 The range of zebrafish phenotypes observed on

overexpres-sion of TGF-b superfamily receptors (A) Examples showing the

ven-tralized phenotypes obtained after overexpression of Cg-BMPR1.

These phenotypes ranged from the least (Vt1) to the most severe

(Vt3) (B) Examples showing the dorsalized phenotypes obtained

after overexpression of intact and truncated Cg-TGFbsfR2 and its C1

and C2 domains and truncated Cg-BMPR1 These phenotypes

ran-ged from the least (D1) to the most severe (D5).

0 25 50 75 100

2 10 50 100 200

D4 D5 D3 D2 D1 Normal

DN-Cg-BMPR1

n=195 n=209 n=167 n=114 n=182

pg/embryo

Proportion of embryos (%)

Phenotypes

Vt3 Vt2 Vt1 Normal

5 50 100 150 200

0 25 50 75 100

Cg-BMPR1

n=77 n=96 n=80 n=73 n=101

pg/embryo

Proportion of embryos (%)

Phenotypes

A

B

Fig 5 Histograms showing the phenotype distribution after over-expression of (A) Cg-BMPR1 and (B) truncated Cg-BMPR1 (DN-Cg-BMPR1) The proportion of embryos showing an individual phenotype is indicated by colour The number of embryos injected for each concentration of mRNA is indicated above each bar of the histograms.

Trang 9

We have described the cloning and functional analyses

of three TGFb superfamily type I and one type II

receptor orthologues These are the first molecules of

this kind to be identified in lophotrochozoans Below

we discuss some of the questions that arise from our

experiments and their analysis

Did the evolution of TGF-b superfamily receptors

occur episodically or gradually?

Phylogenetic analysis of TGFb superfamily receptors

shows them to be clearly divided into two major

clus-ters, containing either type I or type II receptors Each

cluster is further divided into individual clades contain-ing TGF-b sensu strico (s.s.), activin or BMP receptors This observation is congruent, structurally, with the subfamilies already defined by the ligands and suggests

a concerted evolution between ligands and receptors [23] According to the phylogenetic tree shown in Fig 2B, type (I or II) and subtype (TGF-b s.s., activin

or BMP) duplications that gave rise to all known types and subtypes, would predate the divergence between parazoans–eumetazoans and protostomes–deutero-stomes for types and most subtypes, respectively In addition, although the observation of a second extra-cellular domain in the Cg-TGFbsfR2 receptor is unique among protostome and deuterostome type II receptors, multiple extracellular domains are observed

80% epiboly

tbx6

B-80% epiboly

goosecoid

E2 E1

A-D2

Fig 6 In situ hybridization of zebrafish embryos using the ventro-lateral mesoderm marker tbx6 and the dorsal mesoderm marker goosecoid

at 80% epiboly Two examples are shown for each group and each marker Changes in the localization of the tbx6 expression pattern is highlighted DN (dominant negative) indicates that truncated receptor was overexpressed in these experiments.

Trang 10

among sponge (parazoan) molecules [24] At this time,

the basic receptor repertoire may have already

consis-ted of BMP and activin type I and II receptors [24]

The type II TGFb s.s receptor has only been identified

in deuterostomes It may therefore have been lost

during protostome evolution or alternatively have been

acquired during the gene explosion that occurred prior

to the emergence of the chordates Finally, detailed

phylogenetic analyses of duplicated extracellular

domains (Fig 2A) observed in sponges and C gigas

receptors showed them to be more closely related to

other extracellular domains than to their duplicated

counterpart, suggesting a very early duplication event,

probably before the one that gave rise to BMP and

activin subtypes

The gene organization of TGF-b superfamily type I

and II receptors suggests evolution by exon

shuffling

Type I and II TGF-b superfamily receptor gene

organ-ization across protostomes and deuterostomes reveals

that domain distribution among exons is conserved

Usually, intron boundaries do not interrupt functional domains Indeed, for both type I and II receptors, both the phase and position of the exon boundaries of the core kinase domain are highly conserved suggesting that these genes were derived from a common ances-tral kinase gene that encoded sections X and XI of the receptor serine⁄ threonine kinase domain [22] Another striking point is the phase conservation of the intron– exon boundaries that lie either side of the exon enco-ding the extracellular domain This lends support to the theory that the ligand specificity of these receptors may have been achieved by exon shuffling

Cg-BMPR1 and Cg-TGFbsfR2 transcripts are maternally supplied and make the oyster early embryo susceptible to respond to a BMP/activin signal

In many animal species members of the TGF-b super-family of growth factors play a crucial role in specific developmental events [25,26] During early embryo-genesis both Cg-BMPR1 and, to a certain degree, Cg-TFGbsfR2 show an apparent accumulation in

C

A1

A2

A3

A4

P1

P2

P3

Bc A

DN-Cg-ALR1

0 25 50 75 100

dead A4

A2 A1 Normal

10 50 100 200 400pg/embryo

n=177 n=250 n=207 n=197 n=218

D

Phenotypes

Proportion of embryos (%)

0 25 50 75 100

P3 P2 P1 Normal Bc

Cg-ALR1

n=99 n=123 n=108 n=99 n=118

pg/embryo

B

Proportion of embryos (%)

Phenotypes

Fig 7 Distribution of phenotypes after

over-expression of Cg-ALR1 and its truncated

form DN-Cg-ALR1 (A) A dose-dependent

range of anterior defects (P1-3) combined

with mild posterior defects was observed

after overexpression of Cg-ALR1 A

signifi-cant fraction of the embryos also displayed

a bifida chordata (Bc) phenotype in

combina-tion with severe anterior defects (B)

Histo-gram showing the proportion of embryos

displaying each phenotype after injection

with Cg-ALR1 The number of embryos

injected for each experiment is also

indica-ted (C) A dose-dependent range of range of

posterior defects (A1-4) was observed after

overexpression of truncated Cg-ALR1

(DN-Cg-ALR1) (D) Histogram showing the

proportion of embryos displaying each

phenotype after injection with DN-Cg-ALR1.

The number of embryos injected for each

experiment is also indicated.

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