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Akt-dependent phosphorylation negatively regulates thetranscriptional activity of dHAND by inhibiting the DNA binding activity Masao Murakami1,2, Keiichiro Kataoka1, Shigetomo Fukuhara1,

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Akt-dependent phosphorylation negatively regulates the

transcriptional activity of dHAND by inhibiting the DNA binding

activity

Masao Murakami1,2, Keiichiro Kataoka1, Shigetomo Fukuhara1, Osamu Nakagawa2and Hiroki Kurihara1,3 1

Division of Integrative Cell Biology, Department of Embryogenesis, Institute of Molecular Embryology and Genetics, Kumamoto University, Japan;2Department of Molecular Biology, The University of Texas Southwestern Medical Center at Dallas, TX, USA;

3 Department of Physiological Chemistry and Metabolism, The University of Tokyo Graduate School of Medicine, Japan

HAND2/dHAND is a basic helix-loop-helix transcription

factor expressed in the heart and neural crest derivatives

during embryogenesis Although dHAND is essential for

branchial arch, cardiovascular and limb development, its

target genes have not been identified The regulatory

mech-anisms of dHAND function also remain relatively

unknown Here we report that Akt/PKB, a serine/threonine

protein kinase involved in cell survival, growth and

differ-entiation, phosphorylates dHAND and inhibits

dHAND-mediated transcription AU5-dHAND expressed in 293T

cells became phosphorylated, possibly at its Akt

phos-phorylation motif, in the absence of kinase inhibitors,

whereas the phosphatidylinositol 3-kinase inhibitor

wort-mannin and the Akt inhibitor NL-71-101, but not the p70 S6

kinase inhibitor rapamycin, significantly reduced dHAND

phosphorylation Coexpression of HA-Akt augmented

dHAND phosphorylation at multiple serine and threonine residues mainly located in the bHLH domain and, as a result, decreased the transcriptional activity of dHAND Consistently, alanine mutation mimicking the nonphos-phorylation state abolished the inhibitory effect of Akt on dHAND, whereas aspartate mutation mimicking the phos-phorylation state resulted in a loss of dHAND transcrip-tional activity These changes in dHAND transcriptranscrip-tional activity were in parallel with changes in the DNA binding activity rather than in dimerization activity These results suggest that Akt-mediated signaling may regulate dHAND transcriptional activity through the modulation of its DNA binding activity during embryogenesis

Keywords: Akt; bHLH; dHAND; phosphorylation; tran-scription

Basic helix-loop-helix (bHLH) proteins are a highly

con-served superfamily of transcriptional factors that commit to

various developmental processes, such as cell fate

determin-ation, differentiation and tissue-specific gene expression

[1,2] bHLH proteins form homo- or heterodimers to allow

the basic region to bind to the palindromic DNA sequence,

CANNTG, termed the E-box [3–5] In general,

tissue-specific bHLH proteins heterodimerize with broadly

expressed bHLH proteins, named E-proteins [2]

The HAND proteins, HAND1/eHAND and HAND2/

dHAND are expressed in the heart, neural crest-derivatives

and extraembryonic tissues during embryogenesis [6–8]

Gene targeting experiments have revealed that the

develop-mental roles of the two HAND proteins are essential and

distinct dHAND-null mice die at embryonic day 9.5 due

to defects in cardiovascular development [9,10], whereas

eHAND-null mice have lethal defects in early extraembry-onic tissues and cardiovascular development [11,12] Despite evidence for the importance of HAND proteins during embryogenesis, the regulatory mechanisms of tran-scriptional activity of HANDs have not been analyzed in detail [13], especially in terms of post-translational modifi-cations

Akt is a serine/threonine protein kinase activated down-stream of phosphatidylinositol 3-kinase (PI3K) [14,15], and plays central roles in cell survival, growth and differenti-ation From detailed biochemical analyses, the consensus sequence of the phosphorylation target for Akt was identified as RXRXXS/T [16] Glycogen synthase

kinase-3, BAD, and caspase-9 are known as Akt substrates [17–21] Insulin signaling upstream of Akt was previously shown to stimulate global protein synthesis in the heart [22,23] It has been reported that heart size is increased in transgenic mice that express a constitutively active form of Akt from a cardiac specific promoter [23] In some cases Akt translo-cated into nucleus after stimulation [24,25] Although it has been reported that Akt can phosphorylate transcription factors such as FKHR [26–28], CREB [29], and Nur77 [30,31], the physiological importance of Akt phosphoryla-tion in the transcripphosphoryla-tional control has not been fully established

In this study, we investigated regulatory mechanisms of dHAND transcriptional activity by Akt-mediated signaling dHAND is phosphorylated by Akt at serine/threonine

Correspondence to H Kurihara, Department of Physiological

Chem-istry and Metabolism, The University of Tokyo Graduate School of

Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.

Fax: + 81 3 5684 4958, Tel.: + 81 3 5841 3495,

E-mail: kuri-tky@umin.ac.jp

Abbreviations: bHLH, basic helix-loop-helix; PI3K,

phosphatidyl-inositol 3-kinase; GST, glutathione S-transferase; MBP, maltose

binding protein.

(Received 29 January 2004, revised 14 June 2004,

accepted 23 June 2004)

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residues mainly within the bHLH domain Although

phosphorylation of dHAND did not affect its dimerization

with E-proteins, the phosphorylation decreased the

tran-scriptional activity due to inhibition of its DNA binding

This fact may present a novel model for the regulatory

mechanism of bHLH transcription factors

Materials and methods

Plasmid construction

pCEFL-HA-Akt, that encodes HA-tagged Akt [32], was a

gift from J S Gutkind (National Institutes of Health,

USA) Mouse dHAND, eHAND, E47, and ME2/ITF2a

cDNAs were cloned by PCR using the mouse E10.5 cDNA

library (Gibco BRL) as a template Deletion and point

mutants of dHAND were made by PCR using

Quick-ChangeTMXL Site-Directed Mutagenesis Kit (Stratagene)

They were inserted into pGEX (Amersham Pharmacia

Biotech) or pMAL (NEB) for glutathione S-transferase

(GST)- or maltose binding protein (MBP)-fusion proteins,

respectively These cDNAs were also cloned into a

mam-malian expression vector, pCEFL-AU5 [32], which contains

the AU5-tag at the N-terminus, or pCMV-DBD

(Strata-gene) for fusion proteins with a Gal4 DNA binding domain

Cell culture and preparation of cell lysates

293T cells were cultured in DMEM containing 10% (v/v) fetal

bovine serum, 100 UÆmL)1penicillin G and 100 lgÆmL)1

streptomycin at 37C in 5% (v/v) CO2 The C2C12 myoblast

cell line was cultured in DMEM containing 20% fetal

bovine serum, 100 UÆmL)1penicillin G and 100 lgÆmL)1

streptomycin at 37C in 5% (v/v) CO2 Wortmannin (a PI3K

inhibitor), NL-71-101 (an Akt inhibitor), and rapamycin (a

p70 S6 kinase inhibitor) were purchased from Calbiochem

Cells were lysed in NaCl/Picontaining 1% (v/v) Triton X-100

and protease inhibitors, and whole cell lysates were prepared

for immunoprecipitation or pull-down assay For the

immunocomplex kinase assay, cells were lysed in kinase-lysis

buffer [50 mM Tris/HCl (pH 7.5), 137 mM NaCl, 1 mM

EDTA, 1 mMNa3VO4, 20 mMb-glycerophosphate, 50 mM

NaF, 1% (v/v) Triton X-100, and 10% (v/v) glycerol]

containing protease inhibitors

Preparation of GST- or MBP-fusion proteins

GST- or MBP-fusion proteins were expressed in Escherichia

coliDH5a and were induced by adding 0.4 mMisopropyl

thio-b-D-galactoside The cells were suspended in lysis buffer

[NaCl/Pi containing 1% (v/v) Triton X-100 and 1 mM

phenylmethanesulfonyl fluoride] After sonication, crude

cell lysates were centrifuged at 4C and the supernatant was

used for the experiments GST-fusion and MBP-fusion

protein was purified using GSH-Sepharose beads and

Amirose resin, and eluted by 20 mM glutathione or

30 mMmaltose, respectively

Immunocomplex kinase assay

Cell lysates were prepared from 293T cells transfected

with pCEFL-HA-Akt Twenty-four hours after

transfec-tion, the cells were starved for 24 h and stimulated by adding fetal bovine serum at a final concentration of 20% (v/v) for 40 min HA-Akt was immunoprecipitated using

a monoclonal antibody raised against HA, and HA-Akt bound protein-G conjugated sepharose beads were washed by kinase reaction buffer [10 mM Tris/HCl (pH 7.5), 25 mM MgCl2, 10 mM b-glycerophosphate, 0.33 mM Na3VO4, and 0.33 mM dithiothreitol not con-taining ATP] The substrate, GST- or MBP-dHAND and its mutants, and 5 lCi [32P]ATP[cP] were added to the beads The kinase reaction was performed at 37C for

30 min and the reaction was stopped by adding 2.5· sam-ple buffer followed by boiling for 5 min These samsam-ples were applied on 10% (w/v) SDS/PAGE followed by autoradiography

Pull-down assay GST- or MBP-fusion proteins bound to the beads were incubated at 4C for 6 h with cell lysates prepared from 293T cells expressing HA-Akt The beads were washed three times with NaCl/Picontaining 1% (v/v) Triton X-100 and protease inhibitors, and bound proteins were eluted by adding 2.5· sample buffer followed by boiling for 5 min These samples were applied on 10% (v/v) SDS/PAGE and proteins were detected by Western blotting

Immunoprecipitation, Western blotting, and antibodies The procedure of immunoprecipitation and Western blot-ting was described previously [33] Cell lysates were incubated with protein G sepharose beads and the mono-clonal antibody (anti-HA or anti-AU5) at 4C for 6 h The beads were washed with NaCl/Pi containing 1% (v/v) Triton X-100 and protease inhibitors three times and bound proteins were eluted by adding 2.5· sample buffer followed

by boiling for 5 min Antibodies were purchased from Covance (anti-HA and anti-AU5), Zymed (anti-phospho-serine and anti-phosphothreonine), and Cell Signaling [anti-(phospho-Akt substrate) (RXRXXS/T)]

Gel shift analysis Double strand oligonucleotide probes were end-labeled with [32P]ATP[cP] by T4 polynucleotide kinase The binding sequence of eHAND/E47 heterodimer, reported previously [34], was used as the probe The sequence of each probe was as shown below Underlining indicates the E-box sequence: CANNTG Probe E¢ (E¢); 5¢-TTTGCAAGGGG CATCTGGCATTCGCCC-3¢, and mutant probe E¢ (mE¢); 5¢-TTTGCAAGGGGCGAACAGCATTCGCCC-3¢ Two microliters of cell lysate prepared from 293T cells was incubated with 1 lg poly (dI-dC) and labeled probe at room temperature for 30 min These samples were applied

on 4% (w/v) native PAGE followed by autoradiography Transfection and reporter assay

Transfection into 293T or C2C12 cells was carried out using Lipofectamine Plus reagent (Life Technologies) Gal4-DBD

or Gal4-DBD constructs, pFR-Luc (Stratagene), pRL-SV40 (Promega), and pCEFL-HA-Akt were transfected

 FEBS 2004 dHAND phosphorylation by Akt (Eur J Biochem 271) 3331

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and firefly luciferase units were determined 48 h after

transfection Transfection efficiency was normalized on the

basis of renila luciferase activity All these assays were

performed in triplicate

Results and Discussion

Phosphorylation of dHAND by Akt

Although gene targeting analyses in mice demonstrated the

importance of HAND proteins during development, the

regulatory mechanisms of HAND transcriptional activity

are not well understood In this study, we examined the

possibility that Akt might regulate dHAND activity,

because dHAND has a consensus motif for Akt

phos-phorylation (RXRXXS) at amino acids 108–114 First, we

analyzed the phosphorylation status of dHAND in 293T

cells in the absence or presence of several kinase

inhibi-tors AU5-dHAND was immunoprecipitated by

anti-AU5 Ig and the phosphorylation status of dHAND was

analyzed by Western blotting using antibody raised against

the phospho-Akt substrate As shown in Fig 1A,

AU5-dHAND expressed in 293T cells became phosphorylated

possibly at its Akt phosphorylation motif in the absence of

kinase inhibitors This signal was decreased by treatment

with 200 nMwortmannin, a PI3K inhibitor (Fig 1A) Fifty

micromoles of NL-71-101, an Akt inhibitor, also

signifi-cantly reduced dHAND phosphorylation (Fig 1A) In

contrast, 20 nMrapamycin, a p70 S6 kinase inhibitor, did

not largely affect the phosphorylation status of dHAND

(Fig 1A) These results suggest that dHAND is

phosphory-lated in a PI3K/Akt-dependent, but p70 S6

kinase-inde-pendent manner

To determine whether dHAND was phosphorylated by Akt in vivo, we transiently expressed AU5-dHAND and HA-tagged Akt in 293T cells Western blotting with anti-(phospho-Akt substrate) Ig revealed that overexpression of HA-Akt upregulated dHAND phosphorylation (Fig 1B)

Fig 1 Phosphorylation status of dHAND in 293T cells (A) Effect of kinase inhibitors on the basal phosphorylation of dHAND 293T cells expressing AU5-dHAND were treated with 200 n M wortmannin, 50 l M NL-71-101 or 20 n M rapamycin for 120 min Dimethylsulfoxide was used as a vehicle AU5-dHAND was immunoprecipitated using anti-AU5 Ig and applied on 10% SDS/PAGE The phosphorylation status of dHAND was analyzed

by Western blotting using anti-(phospho-Akt substrate) Ig (top) The same membrane was reblotted by anti-AU5 Ig (bottom) (B) Effects of Akt overexpression on dHAND phosphorylation Cell lysates were prepared from 293T cells expressing AU5-dHAND and HA-Akt, and the phos-phorylation status of dHAND was analyzed by immunoblotting with anti-(phospho-Akt substrate) Ig (top) The same membrane was reblotted by anti-AU5 Ig (bottom) (C) Effects of Akt overexpression on dHAND phosphorylation on serine/threonine residues Cell lysates were prepared from 293T cell expressing AU5-dHAND and/or HA-Akt Phosphorylation status of dHAND was analyzed by Western blotting using anti-phosphoserine

Ig (top) or anti-phosphothreonine Ig (middle) The protein amount of AU5-dHAND was estimated by Western blotting using anti-AU5 Ig (bottom).

Fig 2 Akt phosphorylated dHAND in vitro HA-Akt was immuno-precipitated from the cell lysate prepared from 293T cells expressing HA-Akt, and immunocomplex kinase assay was performed in the presence of [ 32 P]ATP[cP] using GST or GST-dHAND as a substrate Protein sample was applied on 10% SDS/PAGE and incorporation of

32

P was detected by autoradiography.

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We also analyzed the phosphorylation status of

AU5-dHAND by immunoprecipitation and Western blotting

methods using antibodies specific to phosphoserine or

phosphothreonine In the cells expressing AU5-dHAND

alone, the anti-AU5 immunoprecipitants gave signals for

both anti-phosphoserine and anti-phosphothreonine

immu-noreactivity, suggesting that dHAND may be basally

phosphorylated at serine and threonine residues in the cells

(Fig 1C) These results indicate that the Akt signal may

pos-itively modulate the phosphorylation status of dHAND

We further examined whether Akt directly

phosphory-lates dHAND using immunocomplex kinase assay

HA-Akt was transiently expressed in 293T cells and cells were

starved and stimulated by 20% (v/v) fetal bovine serum for

40 min to activate HA-Akt HA-Akt was

immunoprecip-itated using anti-HA Ig and the kinase reaction was started

by adding GST-dHAND to the immunoprecipitants in the

reaction buffer containing [32P]ATP[cP] As shown in

Fig 2, strong incorporation of 32P into GST-dHAND

was detected when incubated with HA-Akt

immunoprecip-itates Autophosphorylation of Akt was also detected as

described previously [35] In contrast, GST was not

phosphorylated at all, and immunoprecipitates from the mock transfected cell lysates did not phosphorylate GST-dHAND, indicating that Akt specifically phosphorylates dHAND

To locate the dHAND phosphorylation sites by Akt, we constructed MBP-dHAND mutants in which the C-terminal region was serially deleted (dHAND-(1–102),-(1–132), and -(1–196) (Fig 3A) Comparable phosphorylation was detected in dHAND-(1–196) and dHAND-(1–132), in which the bHLH domain was preserved and partially deleted, respectively (Fig 4A) In contrast, no significant phosphory-lation was detected in dHAND(1–102) (Fig 4A) This result indicates that the major phosphorylation sites reside in the region of amino acids 103–132 of dHAND

The region of amino acids 103–132 contains several serine and threonine residues and Ser114 matches the consensus motif for Akt phosphorylation (RXRXXS/T) (Fig 3B) Thus, to identify the phosphorylation site of dHAND, we first substituted Ser114 with alanine and examined whether this mutant (named dHAND-3SA; Fig 3A) can be phosphorylated by Akt Unexpectedly, the phosphorylation signal was comparable with that of

Fig 3 Structures and putative phosphorylation

sites of dHAND mutants (A) Schematic

representation of the structure of MBP- or

GST-fused dHAND mutants Serine (S) and

threonine (T) residues that were substituted

with alanine (A) or aspartic acid (D) are

indicated by circles Hatched box, black boxes,

and gray box indicate basic region, helix motif,

and loop structure, respectively (B) Amino

acid sequence of mouse dHAND The

posi-tion of the bHLH domain is indicated The

mutated sites in this study are shown by

asterisks (Ser114, Thr103, Thr112, Thr140,

Thr145, and Thr204).

 FEBS 2004 dHAND phosphorylation by Akt (Eur J Biochem 271) 3333

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wild type dHAND (dHAND-WT) (Fig 4B, lanes 1 and

4), leading us to speculate that additional serine/threonine

residues are phosphorylated by Akt There are no sites

other than Ser114 that match completely to the canonical

consensus motif (Fig 3B) However, five additional

threonine residues in the C-terminal half of dHAND fit

the R/KXXS/T motif, which is similar to the consensus

of Akt phosphorylation (Fig 3) Therefore we substituted

Ser114 and all of the five threonines with alanine or

aspartic acid (dHAND-Ala and dHAND-Asp,

respect-ively; Fig 3A) and examined whether these mutants can

be phosphorylated by Akt No phosphorylation was

detected in these mutants, suggesting that these six

residues contain the targets for Akt phosphorylation

(Fig 4B) Then we substituted each of the six serine/

threonine residues one by one with alanine

(dHAND-1TA, 2TA, 3SA, 4TA, 5TA and 6TA; Fig 3A) Among

these mutants, dHAND-1TA demonstrated partial but

substantial decrease in phosphorylation (Fig 4B) In

addition, further decreases in phosphorylation were

detected in mutants X and

dHAND-Ala-XZ (Fig 4B) These results indicated that the major

phosphorylation sites of dHAND were located within

three sites (Thr102, Thr112, and Ser114) mutated in dHAND-Ala-X

Akt binds to dHANDin vitro and in vivo

To examine whether Akt can directly interact with dHAND, we performed pull-down assay using

GST-Fig 4 In vitro kinase assay using MBP-dHAND mutants

Immuno-complex kinase assay was performed using dHAND deletion mutants

(A) or dHAND point mutants (B) as described in Fig 2 Each protein

used as a substrate was subjected to 10% SDS/PAGE and bands were

detected by staining with Coomassie Brilliant Blue (bottom)

Arrow-heads indicate the positions of dHAND mutants.

Fig 5 Analysis of the interaction between dHAND and Akt (A) GST-pull down assay was performed using cell extract of 293T cells expressing HA-Akt (top) GST or GST-dHANDs used in this assay were applied on 10% SDS/PAGE and protein was detected by staining with Coomassie Brilliant Blue (bottom) Arrowheads indicate the positions of dHAND mutants (B) Coimmunoprecipitation assay of dHAND and Akt AU5-dHAND was immunoprecipitated from the cell lysate of 293T cells expressing AU5-dHAND and HA-Akt These samples were applied on 10% SDS/PAGE and bound proteins were detected by Western blotting using anti-HA Ig.

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dHAND and cell extracts of 293T cells expressing HA-Akt.

As shown in Fig 5A, HA-Akt interacted with

GST-dHAND but not with GST To identify the domain of

dHAND interacting with Akt, we performed pull-down

assay using dHAND deletion mutants As shown in

Fig 5A, HA-Akt was also found to interact with

GST-dHAND-(1–132) and -(1–196) In contrast, Akt did not

bind to GST-dHAND-(1–102) efficiently, indicating that

dHAND may bind to Akt via its bHLH domain

To detect the interaction between dHAND and Akt

in vivo, we coexpressed AU5-dHAND and HA-Akt in 293T

cells and performed a coimmunoprecipitation experiment

As shown in Fig 5B, interaction between HA-Akt and

AU5-dHAND was detected This result indicated that Akt

could bind to dHAND in the cells

Transcriptional activity of dHAND was decreased

by Akt phosphorylation

Interestingly, major phosphorylation sites of dHAND are

located within the bHLH domain Therefore, we speculated

that phosphorylation of these sites might affect the DNA

binding and/or dimerization activities of dHAND We first

analyzed the effect of phosphorylation on the transcriptional

activity of dHAND using reporter assay (Fig 6A)

AU5-dHAND, -dHAND-Ala-X, -dHAND-Ala, and -E47 were

cotransfected into 293T cells together with reporter plasmid driven by three E-box sequences Although AU5-dHAND, -dHAND-Ala-X, -dHAND-Ala, and E47 alone showed relatively low transcriptional activity, coexpression of E47 significantly enhanced the activity of dHAND-WT, -Ala-X,

or -Ala (Fig 6A and data not shown) It was of interest that coexpression of Akt reduced the transcriptional activity of dHAND-WT/E47 The activity of dHAND-Ala-X/E47 was partially reduced by coexpression of Akt But this inhibitory effect of Akt was not detected in the case of dHAND-Ala/E47 (Fig 6A)

Luciferase assay was performed using dHAND mutants

to estimate the effect of phosphorylation As shown

in Fig 6B, WT, Ala-X, and dHAND-Ala showed strong transcriptional activity in the presence

of E47 But dHAND-Asp-X, that mimics a phosphoryla-tion form, showed weak transcripphosphoryla-tional activity (Fig 6B) The expression level of dHAND-Asp-X was lower than those of others in the absence of E47 But in the presence of E47, the expression level of this mutant was equivalent to wild type dHAND or other mutants (Fig 6B, lower panel) This indicated the transcriptional activity of dHAND-Asp-X/E47 was much lesser than those of wild type These results indicated that phosphorylation of dHAND decreased the transcriptional activity of dHAND/E47 heterodimer

Fig 6 The effects of Akt expression on the transcriptional activity of dHAND (A) AU5-dHAND, -dHAND-Ala-X, -dHAND-Ala, and -E47 were cotransfected into 293T cells with reporter plasmid encoding luciferase gene, whose expression is driven by three E-box sequences (CATCTG) The effect of Akt expression was monitored by luciferase assay The expression levels of dHAND and its mutants were analyzed by Western blotting using anti-AU5 Ig (bottom) Note that dHAND transcriptional activity requires the presence of E47 (B) Transcriptional activity of dHAND mutants was analyzed by luciferase assay using 293T cells The expression levels of dHAND, its mutants, and E47 were analyzed by Western blotting using anti-AU5 Ig (bottom).

 FEBS 2004 dHAND phosphorylation by Akt (Eur J Biochem 271) 3335

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Phosphorylation of dHAND did not affect the dimerization activity with E47

To clarify the mechanisms of the inhibition of dHAND activity by Akt phosphorylation, we examined whether dimerization activity of dHAND with E47 could be affected by Akt phosphorylation or not We selected the Gal4-fusion system because we can estimate the dimeri-zation activity with E47 and the transcriptional activity of the dHAND/E47 heterodimer independently of their DNA binding activity (Fig 7, upper panel) As shown

in Fig 7, coexpression of E47 enhanced the transcrip-tional activity of Gal4-dHAND-WT, indicating that E47 bound to Gal4-dHAND and functioned as a strong transcriptional activator dHAND-Ala-X and Gal4-dHAND-Ala also showed similar results The transcrip-tional activity of dHAND-Asp-X was also enhanced

by coexpression of E47 This result suggested that phosphorylated dHAND could dimerize with E47 and function as a transcriptional activator complex in a Gal4-fusion system

DNA binding activity of dHAND was decreased

by Akt phosphorylation Because we did not detect the effects of Akt phosphoryla-tion on dimerizaphosphoryla-tion activity of dHAND, we next examine whether the DNA binding activity of dHAND could be affected by Akt phosphorylation The influence of phos-phorylation by Akt on the DNA binding activity was examined by gel shift analysis We included the E-protein

Fig 7 Transcriptional activity of dHAND/E47 was analyzed using

Gal4-fusion system Gal4 DNA binding domain (DBD)-fused

dHAND and reporter plasmid containing the luciferase gene, whose

expression was driven by five Gal4 binding sites, were transfected to

C2C12 cells, and luciferase assay was performed Fold activation is the

ratio of the luciferase activity in cells transfected with E47 construct to

cells transfected with empty vector.

Fig 8 Gel shift analysis of dHAND (A) DNA binding activity of dHAND/ME2 or dHAND-Ala/ME2 to probe E was compared after in vitro phosphorylation procedure in the presence (+) or absence (–) of Akt Protein samples of AU5-dHAND or AU5-ME2 were mixed with 32 P-labeled oligonucleotide probe containing E-box sequence, probe E After incubation at room temperature for 30 min, samples were applied on 4% native PAGE followed by autoradiography (B) Protein amounts of dHAND and dHAND-Ala used

in this experiment were estimated by Western blotting using anti-AU5 Ig (C) DNA binding activities of the heterodimers between dHAND mutants and ME2 were compared to that of wild type dHAND using probe

E Protein amounts of dHAND, dHAND-Asp-X, and dHAND-Asp used in this experiment were estimated by Western blotting using anti-AU5 Ig (bottom).

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ME2/ITF2a tagged with AU5 as a heterodimeric partner in

this experiment

We phosphorylated dHAND by Akt in vitro, mixed with

ME2, and performed gel shift analysis As shown in

Fig 8A, DNA binding activity of wild type dHAND/

ME2 was reduced after phosphorylation by Akt In

contrast, dHAND-Ala showed a shifted band with higher

intensity, and this was not affected by the phosphorylation

procedure (Fig 8A,B) The higher DNA binding activity of

dHAND-Ala may be due to escaping endogenous

phos-phorylation To investigate the effect of phosphorylation on

DNA binding activity, we performed the same assay using

phosphorylation mimicking mutants As shown in Fig 8C,

dHAND-Asp-X and -Asp almost lost their DNA binding

activity These results indicated that the phosphorylation of

Thr102, Thr112, and Ser114 inhibited DNA binding activity

of dHAND

In this study, we showed that Akt could bind to dHAND

and phosphorylate it at serine and threonine residues within

the bHLH domain Phosphorylation by Akt inhibited the

transcriptional activity of dHAND We analyzed the

mechanisms of this inhibitory effect of Akt-dependent

phosphorylation on the transcriptional activity of dHAND

focused on these three aspects: (a) dimerization activity with

E-protein, (b) DNA binding activity of dHAND/E-protein,

and (c) transcriptional activity of dHAND/E-protein

heterodimer Our results indicated that the effect of

Akt-dependent phosphorylation acted on (b), but not (a) and (c)

After phosphorylation by Akt, dHAND/E-protein

hetero-dimer can be present, but this heterohetero-dimer can not bind to

DNA, leading to a decrease in the transcriptional activity

(Fig 9)

Functional modulation by phosphorylation has been

reported in some bHLH proteins For example, the amino

acid sequences of the various myogenic regulatory factors

contain consensus phosphorylation motifs for

cAMP-dependent protein kinase, protein kinase C and casein

kinase II [36–42] The activation of cAMP-dependent

protein kinase or protein kinase C can inhibit muscle

differentiation, whereas casein kinase II stimulates

myogen-esis by increasing the transcriptional activities of MRF4 and

MyoD [43] In these cases, however, phosphorylation or

mutagenesis of each site does not affect the transcriptional

activity with an exception that phosphorylation of the

protein kinase C site of myogenin blocks its DNA binding

activity [40,43], suggesting that the effects of protein kinases

are likely to be indirect Our present study is unique in that

the phosphorylation sites exist within the bHLH domain and

their phosphorylation can directly affect the function as a

transcriptional factor Although p70 S6 kinase can

phos-phorylate the R/KXXS/T motif, rapamycin did not inhibit

dHAND phosphorylation This result and the evidence that

Akt can bind to dHAND and phosphorylate it strongly

suggest that Akt directly regulates dHAND activity

Akt signaling is known to be involved in not only many

developmental processes but also homeostasis in adults [44–

47] It has been reported that heart size is increased in

transgenic mice that express a constitutively active form of

Akt [23], and that down regulation of HAND gene

expression is observed in rodent hypertrophy and human

cardiomyopathy [48] The modulation of dHAND

tran-scriptional activity by Akt phosphorylation may explain a

part of this involvement because there is the report that Akt

is expressed in developing heart [49] Interestingly, the sequence of phosphorylation sites in the bHLH domain is well conserved within the Twist-related bHLH subfamily, to which dHAND and eHAND belong [6] The activity of some of these bHLH family proteins might also be regulated

by Akt signaling in vivo

In conclusion, dHAND was phosphorylated by Akt and the phosphorylation inhibited the transcriptional activity of dHAND Although the phosphorylated form of dHAND could dimerize with E-protein, this complex could not activate the transcription due to a loss of the DNA binding activity The present finding may be an important clue of the regulation mechanisms of HAND proteins

Acknowledgements

We thank Dr J S Gutkind for plasmids, Ms S Okamura, Ms K Shin-Fukuhara, Ms M Yonemitsu, and Dr M Nakagawa for technical assistance, Dr H Saya and Dr T Hirota for advice and discussion on the phosphorylation analysis, and Dr E N Olson and

Dr H Iba for critical comments on this paper This work was supported

by JSPS (Japan Society for the Promotion of Science) Research for the Future Program; Grants-in-Aid for Scientific Research from the Ministry of Education, Science and Culture, Japan; and the Research Grant for Cardiovascular Diseases (14C-1) from the Ministry of Health, Japan.

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Fig 9 A model of the regulation mechanisms of dHAND activity Phosphorylation of dHAND by Akt does not affect on the dimeriza-tion with E-proteins Phosphorylated dHAND can dimerize with E-protein (1) and this complex can function as a transcriptional acti-vator if recruited to DNA (3) But, the heterodimer of phosphorylated dHAND can not bind to the E-box sequence (2) As a result, the transcriptional activity of dHAND is inhibited by Akt signaling.

 FEBS 2004 dHAND phosphorylation by Akt (Eur J Biochem 271) 3337

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