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Despite a slight increase in mito-chondrial mass in mtDNA-depleted cells, the mitochondrial protein importactivity was reduced as shown by a decrease in the import of radiolabeledmatrix-

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a Ca2+-dependent pathway and a reduced mitochondrial protein import

Ludovic Mercy, Aure´lia de Pauw, Laetitia Payen, Silvia Tejerina, Andre´e Houbion,

Catherine Demazy, Martine Raes, Patricia Renard and Thierry Arnould

Laboratory of Biochemistry and Cellular Biology, University of Namur (FUNDP), Namur, Belgium

Keywords

biogenesis; calcium ⁄ CaMKIV; gene

expression; mitochondrial dysfunction;

protein import

Correspondence

T Arnould, Laboratory of Biochemistry and

Cellular Biology, University of Namur

(F.U.N.D.P.), 61 rue de Bruxelles,

mitochond-in mtDNA-depleted cells is also dependent on mitochond-intracellular calcium as itschelation reduces mitochondrial mass Despite a slight increase in mito-chondrial mass in mtDNA-depleted cells, the mitochondrial protein importactivity was reduced as shown by a decrease in the import of radiolabeledmatrix-targeted recombinant proteins into isolated mitochondria and bythe reduced mitochondrial localization of ectopically expressed HA-apo-aequorin targeted to the mitochondria Decrease in ATP content, in mito-chondrial membrane potential as well as reduction in mitochondrial Tim44abundance could explain the lower mitochondrial protein import inmtDNA-depleted cells Taken together, these results suggest that mito-chondrial biogenesis is stimulated in mtDNA-depleted cells and involves acalcium-CREB signalling pathway but is associated with a reduced mito-chondrial import for matrix proteins

Abbreviations

ANT2, adenine nucleotide translocase isoform 2; ATF2, activating transcription factor 2; b-ATPase, beta subunit of Fo-F1-ATPase; CaMKIV, calmodulin-dependent kinase IV; COX I, II, IV and VIII, cytochrome c oxidase subunit I, II, IV and VIII; CPT-1, carnitine palmitoyl transferase-1; CREB, cAMP-responsive element binding protein; cyt c, cytochrome c; DHFR, dihydrofolate reductase; FCCP, carbonyl cyanide

p-trifluoromethoxyphenylhydrazone; HA, hemaglutinin; mtDNA, mitochondrial DNA; MEF2, myocyte enhancer factor 2; mtTFA ⁄ Tfam, mitochondrial transcription factor A; NAO, nonyl acridine orange; NFAT, nuclear factor of activated T cells; NFjB, nuclear factor kappaB; NRF-1 and 2, nuclear respiratory factor-1 and 2; OXPHOS, oxidative phosphorylation; PGC-1a and b, PPARc coactivator-1 a and b; PPARc, peroxisome proliferator-activated TATA-box receptor c; PRC, PGC-1a-related coactivator; R123, rhodamine 123; ROS, reactive oxygen species; Sp1, specificity protein 1; TBP, TATA-binding protein; TNFa, tumor necrosis factor a; TIM, translocase of inner membrane; TOM, translocase of outer membrane; USF-2, upstream stimulatory factor-2; YY1, ying-yang 1; Dwm, mitochondrial membrane protential.

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Mitochondria play crucial functions in health and

diseases and many mitochondrial disorders, that

mainly affect tissues with high energy demands,

result from mutations or deletions in the

mitochond-rial genome that impair the synthesis of one or more

of the mitochondrial encoded respiratory protein

leading to a decrease in oxidative phosphorylation

(OXPHOS) capacity [1–3] Mitochondrial

prolifer-ation and increase in the expression of respiratory

proteins are a common manifestations found in

patients with mitochondrial myopathies or mtDNA

depletion that is responsible for the so-called

‘ragged-red fibers’ phenotype of skeletal muscle [4] In

addition, several studies have now shown that

mito-chondrial dysfunction leads to the stimulation of

mitochondrial biogenesis For example, muscle from

mouse with myopathy and hypertrophic

cardiomyo-pathy resulting from the targeted inactivation of the

gene encoding the heart muscle isoform of the

aden-ine nucleotide translocator (ANT 1) display abnormal

proliferation of mitochondria [5] In a conditional

knockout mice for mitochondrial transcription factor

A (Tfam), a transcription factor involved in the

regulation of the mitochondrial genome replication

and transcription [6], leading to mtDNA-depletion

and prolonged respiratory chain deficiency, Hansson

et al recently reported that the mitochondrial mass

increases in respiratory chain deficient embryos and

differentiated mouse tissues [7]

If each mammalian cell contains several hundreds

to more than a thousand mitochondria, it is thus

now clear that the size, shape, and abundance of

mitochondria vary dramatically in different cell types

and may change under different energy demand [8]

The abundance of mitochondria in a cell is

deter-mined by division and⁄ or biogenesis of the organelle

[9] that can be defined as a complex biological

pro-cess requiring the synthesis of phospholipids and

cooperative interactions between proteins encoded by

both the nuclear and mitochondrial genes [10,11], the

mitochondrial protein import and their assembly [3]

However, mechanisms leading to mitochondrial

bio-genesis in cells deficient for mitochondrial activity

are still poorly understood

As the protein-coding capacity of mammalian

mtDNA is limited to 13 respiratory subunits that are

necessary for mitochondrial function and integrity,

more than 95% of the genes necessary for

mito-chondrial biogenesis are encoded in the nucleus and

their expression is regulated by the activation of a

small set of specific transcription factors and

signal-ling pathways [9,12,13] The first class of nuclear

transcriptional regulators involved in the biogenesis

of the organelle includes specific DNA-binding scription factors such as nuclear respiratory factors 1and 2 (NRF-1 and NRF-2) that act on the genescoding for constituent subunits of the OXPHOS sys-tem and mtDNA replication [14–17] Other factorssuch as CREB (cyclic-AMP responsive element-bind-ing protein) [18], PPARc (peroxisome proliferatoractivated receptor gamma) [19,20],or the muscle-spe-cific transcription factor MEF2 (myocyte enhancerfactor 2) [21,22] and general factors such as YY-1(ying yang 1) [23], USF-2 (upstream stimulatory fac-tor-2) [24], and Sp1 (specificity protein 1) [25] havebeen described to act as activators or repressors ofnuclear genes encoding mitochondrial proteins andmore particularly proteins involved in the OXPHOScomplexes A second class of regulators containscoactivators that are unable to bind DNA such asPGC-1a (peroxisome proliferator activated receptorgamma coactivator-1alpha) and related family mem-bers (PRC and PGC-1b) [26] These proteins caninteract with DNA-bound transcription factors inorder to coordinate their action in the expression ofgenes essential for cellular energetics and mitochond-rial biogenesis [27] as recently shown in exercise-induced skeletal muscle adaptation [28]

tran-Numerous signalling pathways have been reported toact upstream of these transcriptional regulators involved

in mitochondrial biogenesis by stimulating the sion of nuclear genes encoding respiratory proteins.Firstly, reactive oxygen species (ROS) have been des-cribed to promote expression of cytochromes c1 and bthrough a H2O2-dependent signalling in human cellsthat respond to defective respiratory function [29].Moreover, a treatment of human MRC-5 lung cells withantimycin A that elevated the intracellular ROS produc-tion induced an increase in the mitochondrial mass inthe cells [30] ROS have also been reported to enhancethe expression of nuclear genes involved in mitochon-drial biogenesis such as NRF-1 and Tfam in rho0HeLaS3 cells [31] Secondly, a nitric oxide (NO)-cGMP-dependent pathway has been reported to control mit-ochondrial biogenesis in several mammalian cell types[32] On the other hand, many links do exist between ahigh cytosolic calcium concentration and the increase inmitochondrial biogenesis as a treatment of muscle cellswith A23187 (a calcium ionophore) triggers the expres-sion of cyt c in a PKC-dependent manner [33] Ojuka

expres-et al also demonstrated that intermittent increases incytosolic calcium stimulate mitochondrial biogenesis inmuscle cells and suggested that calcium is the mediatorresponsible for the increase in mitochondrial population

in response to exercise [34,35] Furthermore, rial dysfunction and calcium homeostasis are closely

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mitochond-interdependent in cell signalling and cell death [36].

Indeed, it was observed that depletion of mtDNA below

a certain level as well as treatment of mammalian cells

with respiratory inhibitors increased steady-state levels

of cytosolic calcium that may change activities of several

Ca2+-dependent transcription factors such as CREB

[37], nuclear factor of activated T-cells (NFAT),

activa-ting transcription factor 2 (ATF2) and nuclear factor

kappa B (NFjB) that increase OXPHOS gene

expres-sion including subunit Vb of cytochrome c oxidase

(COXVb) and thus stimulate mitochondrial biogenesis

[38] A role of calcium and calmodulin-dependent

kinas-es (CaMKs) in the control of mitochondrial biogenkinas-esis

has also been demonstrated in skeletal muscle of

trans-genic mice that over-express a muscle-specific

constitu-tively active form of CaMKIV [39], a kinase we

previously found to be activated in L929 and 143B

mtDNA-depleted cells and responsible for CREB

activation [37]

During the mitochondrial biogenesis process, the

majority of the thousand or more mitochondrial

pro-teins are required to be imported from

nuclear-enco-ded cytosolically synthesized precursors The import of

these proteins is achieved by different mechanisms

known to operate during the import of the two major

classes of mitochondrial proteins such as the

philic proteins with cleavable presequences and

hydro-phobic proteins with multiple internal signals [40] The

mitochondrial protein import involves an important

group of proteins including translocase of the outer

membrane (TOM) such as Tom40, Tom20, Tom70

and translocase of the inner membrane (TIM) such as

Tim22 and Tim23 family members [40] as well as

numerous chaperones such as Hsp70 [41] forming

effectors, adaptors and receptors of the mitochondrial

protein import machinery Several reports mentioned

the significance of the protein import in the rate of

mitochondrial protein import as several stimuli,

inclu-ding contractile activity of skeletal muscle, thyroid

hormone treatment, and muscle differentiation can

alter the expression of the import proteins that

ulti-mately lead to a change in protein import rate and

mitochondrial phenotype [42–46]

Numerous mtDNA-depleted cell lines have been

generated by long-term treatment with ethidium

bro-mide [47,48] or DNA polymerase-c inactivation [49]

to study important mitochondrial defects in

OXPHOS, calcium homeostasis alteration, ROS

pro-duction and more recently resistance to apoptosis

[37,38,50] It is also interesting to emphasize that

mtDNA-depleted cells maintain their ability to

gener-ate mitochondria-like structure and a mitochondrial

membrane potential (Dwm) [51–53] Thus, even if the

mechanisms involved in the mitochondrial biogenesis

of mtDNA-depleted cells are poorly understood, it isnow more evident that mtDNA is not essential forthe biogenesis of mitochondrial-like structure in pro-liferating cells

In this study, to address the question of rial biogenesis in cells depleted of mtDNA, we usedrho-L929 and rho0143 B cells (partially and totallydepleted of mtDNA, respectively) to evaluate the ret-rograde signalling that controls the expression ofnuclear genes encoding mitochondrial proteins andthe activity of mitochondrial matrix-tageted proteinimport We first showed that cells depleted of mtDNAnot only maintain but up-regulate the biogenesis ofmitochondria, as the mitochondrial staining with spe-cific fluroescent dyes and the expression of cyt c areboth increased in these cells We next studied theactivity status of several key transcriptional regulatorsknown to control the biogenesis of mitochondria such

mitochond-as NRF-1⁄ 2, PPARc, MEF2, CREB, Sp1 and YY-1,

as well as the abundance of the coactivator PGC1aand found that CREB is the only overactivated factor

in mtDNA-depleted cells We also showed that CREBregulates cyt c expression and could play a role inmitochondrial biogenesis in mtDNA-depleted cells asthe over-expression of dominant negative mutants(K1-CREB and M1-CREB) decreases both cyt cexpression and nonyl acridine orange (NAO) accumu-lation used to monitor mitochondrial mass in cells.The dependence of mitochondrial biogenesis on intra-cellular calcium in mtDNA-depleted cells was also evi-denced as chelation of intracellular calcium reducesthe abundance of mitochondrial population However,despite a slight increase in mitochondrial populationand cyt c abundance in mtDNA-depleted cells, themitochondrial import activity for matrix proteins isreduced in these cells as we observed a decrease in theimport of radiolabeled matrix-targeted recombinantproteins into isolated mitochondria and a lowermitochondrial localization of ectopically expressedHA-apoaequorin addressed to the mitochondria Wealso clearly showed that lower mitochondrial importfor matrix proteins in mtDNA-depleted cells is associ-ated with a decrease in ATP content, in mitochondrialmembrane potential as well as with a reduction in mit-ochondrial Tim44 abundance, an important effector

of mitochondrial import apparatus Taken together,these results suggest that mitochondrial biogenesisleading to the accumulation of ‘abnormal’ mitochon-dria in mtDNA-depleted cells could be mediated, atleast partly, by a calcium-CREB signalling pathwaybut is associated with a reduced mitochondrial importfor matrix proteins

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Maintenance of mitochondrial structure

in mtDNA-depleted cell lines

Rho-L929 cells [54] as well as rho0143B cells were

pre-viously characterized by our group for

mtDNA-deple-tion and impaired mitochondrial funcmtDNA-deple-tion [37,51] To

compare mtDNA-depletion in rho-L929 and rho0143B

cells used in this study, COXI expression was

deter-mined by western blot analysis in parental and

mtDNA-depleted cells (Fig 1A) As expected, this

mtDNA-encoded subunit of cytochrome c oxidase is

not expressed in rho0143B and its expression is barely

detectable in rho-L929 cells To investigate whether or

not mtDNA depletion leads to modifications in

mito-chondrial content, the abundance and the morphology

of mitochondria were compared in rho-L929 and L929

cells using transmission electron microscopy (TEM)

(Fig 1B) In rho-929 cells, the morphology of

mito-chondria is clearly different as they appear rounder,

swollen and less dense to electrons as already reported

for several other mtDNA-depleted cell lines [53,55]

When mitochondrial population abundance was

assessed with Mitotracker Red, a specific

mitochond-rial fluorescent probe used for mitochondmitochond-rial mass

detection [56,57], we found a punctuated pattern of

staining that is compatible with a mitochondrial

reten-tion and localizareten-tion of the fluorescent probe in both

mtDNA-depleted and parental cells (Fig 1C)

Quanti-tative analysis of Mitotracker Red accumulation using

spectrofluorimetry also revealed that staining is

dependent on loading time and suggests a slight

increase in rho-L929 cells when assessed after 30 min

in the presence of the dye (supplementary Fig S1)

Similar results were also found for rho0143B cells

stained with Mitotracker Red or NAO, a lipophilic

cation that has a high affinity for mitochondrial

cardi-olipin rich membranes [58] (Figure 7A) We are aware

that in several cell types NAO staining has been

des-cribed recently to be also dependent on the

mitochond-rial membrane potential [59] As the NAO staining is

not reduced, and is even slightly increased in

mtDNA-depleted cells while the mitochondrial membrane

potential is lower in these cells [51,52], these data

sug-gest a higher mitochondrial mass in mtDNA-depleted

cells This statement is also supported by the analysis

of mitochondrial population abundance perfomed by

the quantification of the cell area occupied by

mito-chondria on transmission electron microscopy (TEM)

micrographs from L929 and rho-L929 cells Indeed,

using the nih image software free online (http://rsb

info.nih.gov/nih-image/Default.html) we analysed three

section images (10.7 square inches; magnification

15 600·) taken from random observations and foundthat the surface corresponding to mitochondria repre-sents 11.2 ± 2.3% and 18.8* ± 2.5% (*P < 0.05) forL929 and rho-L929 cells, respectively

mtDNA-deple-by the immunodetection of TBP (B) Electron micrographs of L929 and parental L929 cells showing the presence of rounder shaped mitochondria (arrows) (magnification: 25 200 X) (C) Staining for mitochondrial population with Mitotracker Red in L929, rho- L929, 143B and rho 0 143B incubated with 250 n M of the cationic dye for 30 min and processed for confocal microscopy observation Scale bars ¼ 10 lm and arrows indicate punctuated mitochondrial staining.

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rho-These data show that the abundance of

mitochond-rial population in cells without mtDNA is maintained

and even slightly increased when compared to parental

cells

Effect of mtDNA depletion on some

mitochondrial markers

As mitochondrial biogenesis is dependent on the

expres-sion of numerous nuclear-encoded genes, we next

deter-mined the expression level of several key mitochondrial

markers that cover energetic pathway or mitochondrial

protein import machinery such as the b-subunit of the

Fo-F1-ATPase (b-ATPase), the adenine nucleotide

translocator isoform 2 (ANT2), COXVb or Tom40

and Tim44 The relative mRNA abundance of

b-ATPase, COXVb and Tim44, determined by

real-time PCR, is significantly up-regulated (> twofold

increase) in rho0143B cells compared to parental cells

(Fig 2A) However, we found that some of these

genes might be variously expressed at the protein level

when assessed on cleared cell lysates Indeed, the

Fo-F1-ATPase b-subunit is similarly expressed in both

143B and rho0143B cells (Fig 2B), a data in agreement

with a previous report showing that the expression of

b-ATPase is unchanged in rho0HeLa S3 and rho0143B

[52] The reason for this discrepancy between mRNA

and protein abundance is unknown but could involve

a post-transcriptional regulation as it has been

pro-posed before for the over-expression of Tfam and

NRF-1 at the transcriptional level that was not

reflec-ted at the protein level in mtDNA-deplereflec-ted cells

[31,60] However, this regulation might also be

rela-tively specific as Tim44 was found to be over-expressed

at the protein level in rho0143 B cells, a data in

accordance with the increase in the messenger RNA

for this marker (Fig 2A)

To discriminate between a transcriptional regulation

and mRNA stabilization in the accumulation of these

transcripts, we next transfected cells with plasmids

encoding chloramphenicol acetyl transferase (CAT)

reporter gene driven by the authentic promoter of the

cyt cor the b-ATPase gene (Fig 2C) CAT activity was

significantly up-regulated (respectively three and sixfold

increase) in rho0143B, a result that is consistent with a

positive transactivation of these genes In order to

make sure that the activation of the cyt c promoter is

really the result of a mitochondrial inhibition and not a

consequence of an indirect long-term cell adjustment

to mtDNA depletion, we tested the effect of

mito-chondrial metabolic inhibitors on the promoter activity

143B cells were first transiently transfected with the cyt

c-CAT plasmid and then incubated for 24 h with 1 lm

antimycin A (a complex III inhibitor) or 10 lmcarbonyl cyanide p-trifluoromethoxyphenylhydrazone(FCCP), a mitochondrial uncoupler that both impairthe OXPHOS We found that cyt c promoter was alsoactivated in response to both treatments (Fig 2D).These results show that mitochondrial activity impair-ment per se is responsible for the up-regulation of cyt cgene expression and several other mitochondrialmarkers while ANT2 does not seem to be over-expressed in mtDNA-depleted cells (Fig 2C)

As cyt c is a common marker used to characterizemitochondrial biogenesis [32] and in order to directlyaddress both the expression and the distribution of theprotein, the endogenous expression of cyt c was firstanalysed by western blotting performed on proteinsextracted from enriched-mitochondrial fractions ofmtDNA-depleted cell lines (Fig 3A) The protein ismore abundant (two- to threefold increase) in themitochondria of both mtDNA-depleted cell lines sug-gesting that not only the protein is over-expressed but

is also imported into mitochondria These data havebeen confirmed by immunostaining of cyt c in thedifferent cell lines (Fig 3B) Quantification of fluores-cence signals in cell sections indicates both over-expres-sion and a wider distribution of the protein inmtDNA-depleted cells (Fig 3C) Taken together, thesedata strongly suggest an over-expression of cyt c thatmight be associated with a more abundant mitochond-rial population in mtDNA-depleted cells The role andthe functional significance of cyt c over-expression inmitochondria of mtDNA-depleted cells is an intriguingobservation that should be addressed in the future.The regulation of mitochondrial marker expression

in mtDNA-depleted cells is a process that mightinvolve the activation of transcription factors described

to control the biogenesis of mitochondria

Reduced expression and activity of NRF-1, NRF-2and Tfam in mtDNA-depleted cells

It has been reported previously that mtDNA-depletedHeLa cells display increased mRNA levels of NRF-1and Tfam genes [61] We thus evaluated NRF-1 andNRF-2, two major transcription factors that controlthe expression of several nuclear genes encoding mito-chondrial proteins [6,14,62] and Tfam expression[60,63,64] Interestingly, while NRF-1 expression isonly slightly reduced in both mtDNA-depleted cells(10–20%), NRF-2 expression is strongly decreased inrho0143B and rho-L929 cells by 60 and 80%, respect-ively (Fig 4A) As both factors have been implicated

in the control of Tfam expression [6] which is known

to regulate mtDNA transcription and replication [65],

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we thus monitored the expression of Tfam in the

murine cell line [66] and show that this factor is

down-regulated in rho-L929 cells (Fig 4B) These results are

in agreement with data obtained in rho-C2C12 cells[60] and suggest that the activity of NRFs is decreased

in mtDNA-depleted cells To test this hypothesis, cells

of clear lysate proteins (35 lg) prepared from 143B and rho0143B cells using specific antibody to Tim44 and to the F1-ATPase b subunit Equal protein loading between lanes was determined by the immunodetection of a-tubulin (C) Promoter activity of ANT2, cyt c and b subunit

of F1-ATPase determined by CAT activity in transiently cotransfected 143B (white) and rho 0 143B (black) cells with CAT reporter constructs driven by the authentic promoter of these genes and a plasmid encoding b-galactosidase CAT activity (cpm: count per minute) was deter- mined 48 h post-transfection and normalized for b-galactosidase activity Results are expressed in percentages of control cells (n ¼ 4) (*,***): significantly different from control cells with, respectively, P < 0.05, and P < 0.001 (D) Effect of antimycin A and FCCP on the promoter activity of cyt c determined by CAT activity 143 B cells were transiently transfected with a CAT reporter construct driven by the cyt c promoter and were incubated or not (control, CTL) for 6 h with 1 l M antimycin A or 10 l M FCCP CAT activity (cpm) was determined

48 h post-transfection and normalized for b-galactosidase activity Results are expressed in percentages of control cells as means for n ¼ 2.

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were transiently transfected with luciferase reporter

constructs driven by a minimal TK promoter linked to

either four copies of the binding site for NRF-1 (4X

NRF-1) or the Tfam authentic promoter responsive to

NRF-1 [57] Under these conditions, a dramatic and

highly significant decrease in luciferase activity was

obtained for both constructs in rho0143 B (Fig 4C)

These results suggest that the transactivation mediated

by NRF-1 is reduced in mtDNA-depleted cells As

NRF-1 DNA-binding and activity have been shown to

be positively regulated after phosphorylation by casein

kinase II [67], the activity of this enzyme was assessed

in vitro after immunoprecipitation of the kinase from

L929 and rho-L929 Results show an importantdecrease in the activity of casein kinase II in mtDNA-depleted cells (Fig 4D) Furthermore, in human fibro-blasts, ROS production has also been reported tomediate a retrograde signalling pathway that canenhance the expression of NRF-1 and Tfam mRNA inrho0HeLa or antimycin A-treated cells [29,31] ROSproduction was thus determined in L929 and rho-L929cells using the dichlorofluorescein (DCF) probe Inthese conditions, while antimycin A, used as a positivecontrol, triggers a significant increase in ROS produc-tion in L929, we found that ROS generation wasreduced by almost 40% in rho-L929 cells (Fig 4E) as

A

B

C

Fig 3 Expression of cytochrome c protein

is enhanced in mtDNA-depleted cells (A)

Western blot analysis of mitochondrial cyt c

(mtcyt c) abundance performed on proteins

extracted from mitochondrial-enriched

frac-tions of 143B, rho 0 143B, L929, and

rho-L929 cells Equal protein loading between

mtDNA-depleted and corresponding parental

cell lines was determined by the

immuno-detection of the nuclear-encoded COXIV.

(B) Immunostaining of cyt c and confocal

microscopy analysis performed on

para-formaldehyde-fixed and Triton permeabilized

143B, rho0143B, L929 and rho-L929 cells.

(C) Analysis of fluorescence intensity

per-fomed on cell sections presented in B using

the QUANTIFY software from Leica

Fluores-cence intensity profiles are plotted from A

to B direction for the different cell lines.

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already reported for other cell lines depleted of

mtDNA [68,69] These cells are also less-responsive to

an antimycin A treatment Taken together, these

results support a lower expression and activity of

NRF-1 and Tfam in mtDNA-depleted cells

Activity of YY1, Sp1, PPARc, MyoD, MEF2 and

CREB in mtDNA-depleted cellsBeside the crucial role of NRF-1 and NRF-2 in theregulation of OXPHOS genes [15], the transcriptionalcontrol of numerous nuclear genes encoding mito-chondrial proteins also involves other transcriptionfactors such as YY1, Sp1, PPARc, MyoD, MEF2 andCREB [13,70–74] Using a sensitive colorimetric assaysystem as previously described for NF-jB [75], we thusmeasured the DNA-binding activity of these transcrip-tion factors to specific synthetic DNA consensussequence in nuclear protein extracts prepared from143B L (L929) and rho0143B cells (Fig 5A) or fromL929 and rho-929 cells (Fig 5B) The amount of Sp1,PPARc and MyoD that binds to DNA is reduced inboth mtDNA-depleted cell lines while MEF2 DNA-binding activity is unchanged in these cells Theseresults suggest that a chronic inhibition of mitochond-rial activity impairs the DNA-binding activity of

mtDNA-of proteins from clear lysates mtDNA-of L929 and rho-L929 cells Equal loading between lanes was determined by the immunodetection of a-tubulin (C) mtDNA-depletion decreases the activity of a NRF-1- responsive synthetic promoter as well as the activity of the authen- tic Tfam promoter 143B and rho 0 143 B cells were transiently cotransfected with 0.25 lg of a CMV ⁄ b-gal expression plasmid and 0.5 lg of the 4X NRF-1-Luc construct or 0.5 lg of the Tfam promo- ter-Luc construct Luciferase activity was determined 24 h post- transfection and normalized for b-galactosidase activity Results are expressed in percentages of control 143B cells as means ± 1 SD for n ¼ 3 (**: significantly different from control cells with

P < 0.01) (D) Casein kinase II activity is reduced in rho-L929 cells The enzyme was immunoprecipitated from cleared lysates of L929 and rho–L929 cells In vitro activity was then determined in the presence of a synthetic peptide and [c- 32 P]ATP as described in the

‘experimental procedures’ Results represent the radioactivity ciated with the substrate and are expressed in cpm as means for two samples The amount of immunoprecipitated kinase in the dif- ferent conditions is shown on the western blot below (E) ROS pro- duction is reduced in rho-L929 cells Cells were incubated for

asso-30 min at 37 C with 5 l M DCF and then incubated or not with

1 l M antimycin A for 60 min Cells were then lysed before associated fluorescence was measured with a spectrofluorimeter Results are expressed in arbitrary fluorescence units as means ± S.D for n ¼ 4 **, ***: significantly different from L929 cells as determined by an ANOVA I and Sheffe´’s contrasts with, respectively,

cell-P < 0.01 and cell-P < 0.001.

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several key transcription factors involved in the control

of genes encoding mitochondrial proteins

In order to study the activity of YY1 and PPARc

further, cells were transiently transfected with

con-structs encoding a luciferase reporter gene driven bypromoters responsive to these factors (Fig 5C) Thetranscriptional activity of these factors was eitherunchanged (YY1) or slightly decreased (PPARc) inrho0143B cells Using luciferase constructs that are specifically activated by Sp1 or NRF-2, we also observed adecrease in the transcriptional activity of these factors

in both mtDNA-depleted cells (data not shown) On thecontrary, CREB, a transcription factor we previouslyidentified as specifically activated in cells with impairedmitochondrial activity [37], is activated in rho0143Bcells as shown by a 2.5-fold increase in the luciferaseactivity encoded by a reporter construct driven by thea-inhibin promoter that contains several CRE sites [76].Several of the nuclear transcription factors that con-trol the expression of genes encoding mitochondrialproteins are coordinated by PGC-1a, which inducesNRF-1 and NRF-2 expression and coactivates severalmitochondrial regulatory factors such as NRF-1,MEF2 or PPARc [76a] In skeletal muscle, it has beenshown that a p38 MAPK signalling stimulates PGC1aexpression and promotes mitochondrial biogenesis [28].Indeed, consequently to its activation, PGC1a causes

an increase in mRNA for several genes encoding ochondrial proteins such as cyt c, COXII and COXIV,the b-ATPase, CPT-1 and uncoupling proteins (UCPs)

mit-in a cell type-selective manner [19,57,77] In both L929 and rho0143B cell lines, PGC1a expression isdecreased, as shown by a strong reduction of PGC-1apromoter activity and protein abundance analysed bywestern blotting and immunostaining (supplementaryFig S2)

rho-Role of a CREB⁄ CaMKIV pathway in themitochondrial biogenesis of mtDNA-depletedcells

We showed previously that a CaMKIV-CREB ling pathway is specifically activated in cells withimpaired mitochondrial activity [37] and more recentlyseveral studies reported the importance of this pathway

signal-in the regulation of mitochondrial biogenesis signal-in etal muscle [39,78] To test the potential role of CREB

skel-in the biogenesis of mitochondria skel-in mtDNA-depletedcells, we over-expressed K-CREB and M1-CREB, twodominant negative mutants of CREB [79] and meas-ured their effect on the CAT reporter gene driven bythe cyt c promoter, containing two functional CREsites [18] While inhibition efficiency is rather differentfor both dominant negative forms that could beexplained by either their different mechanism of action

or their respective level of expression, the sion of both dominant mutants significantly reduces

over-expres-Fig 5 Effect of mtDNA-depletion on Sp1, PPARc, MyoD and MEF2

DNA-binding activity and transactivation Microwells containing the

DNA probes were incubated with 10 lg of nuclear proteins prepared

either (A) from 143B (white) and rho 0 143B (black) or (B) from L929

(white) and rho-L929 (black) After the colorimetric reaction,

absorb-ance was measured at 490 nm and the results were expressed in

percentages of corresponding controls as means ± 1 SD for n ¼ 3.

(C) Effect of mtDNA-depletion on the transcriptional activity of YY1,

PPARc and CREB 143B and rho0143B cells were transiently

transfected with 0.25 lg of a CMV ⁄ b-gal plasmid and 0.5 lg of

responsive luciferase constructs responsive to either YY1

(Msx2SS-Luc), PPARc (3X-PPRE-TK-Luc) or CREB Luciferase activity was

determined 24 h post-transfection and normalized for

b-galacto-sidase activity Results are expressed as percentages of controls as

means ± 1 SD for n ¼ 3 *, **, ***: significantly different from

corresponding controls as determined by an ANOVA I and Sheffe´’s

contrasts with, respectively, P < 0.05, P < 0.01, and P < 0.001.

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the activity of cyt c promoter in rho0143B cells

(Fig 6A) The over-expression of K-CREB and

M1-CREB also decreases the expression of endogenous

cyt c in rho-929 cells (Fig 6B,C) Furthermore, the

over-expression of a CaMKIV dominant mutant

(CaMKIVT200A) [80] is also able to repress cyt cexpression in rho–L929 cells (Fig 6B,C), suggestingthat a calcium⁄ CaMKIV-CREB pathway might beinvolved in the induction of cyt c expression inmtDNA-depleted cells As a single mitochondrial pro-tein marker is not enough to characterize mitochond-rial biogenesis, we next used NAO dye to monitortotal abundance of the mitochondrial population inrho0143 B cells that over-express either K-CREB orM1-CREB After 48 h, we consistently found a reduc-tion of about 15–20% in the NAO signal in these cells(Fig 7A), suggesting that global mitochondrial abun-dance can be reduced by inhibiting CREB activity.Taken together, these data suggest that the presence ofmitochondria in mtDNA-depleted cells could bedependent on an active CaMKIV-CREB pathway AsmtDNA-depletion causes a sustained increase in cyto-solic calcium that activates cell signalling such asCaMKIV-CREB or JNK pathway [37,38], and becauseintermittent or sustained increase in cytosolic calcium

of skeletal muscle during exercise results in an increase

A

B

C

Fig 6 Cytochrome c up-regulation is dependent on CREB in

mtDNA-depleted cells (A) cyt c promoter activity in transiently

cotransfected 143B (white) and rho 0 143B (black) cells with

plas-mids encoding K-CREB, M1-CREB, a CREB-sensitive CAT reporter

construct driven by the cyt c promoter and an expression plasmid

encoding the b-galactosidase CAT activity was determined in cell

lysates 48 h post-transfection Substrate-associated radioactivity

(cpm) was normalized for b-galactosidase activity and results are

expressed in percentages of 143B control cells as means ± 1 SD.

for n ¼ 3 (***: significantly different from 143B control cells with

P < 0001; + and + + + : significantly different from rho 0 cells with,

respectively, P < 0.05 and P < 0.001) (B) Representative western

blot image of cyt c expression assessed in L929 and rho-L929 cells

transiently transfected with either plasmids encoding K-CREB,

M1-CREB, CaMKIV(T200A) or a pGL2 empty vector (L929 and

rho-L929 control cells) Equal loading was determined by the

immu-nodetection of a-tubulin (C) Quantification of cyt c expression after

optical density determination of the different signals and

normaliza-tion by the abundance of a-tubulin The mean value in L929 cells

was set as a reference for comparison and results are expressed in

fold-increase as means ± 1 SD (n ¼ 3) *: significantly different

from L929 cells with P < 0.05. Fig 7 Mitochondrial mass is dependent on CREB and calcium in

mtDNA-depleted cells (A) Spectrofluorimetric determination of mitochondrial abundance measured by NAO accumulation in 143B (white) and rho0143B (black) cells transiently transfected with a plasmid encoding K-CREB or M1-CREB for 48 h or (B) in cells incu- bated in the presence of BAPTA (10 l M ) for 72 h Results are expressed in arbitrary fluorescence unit normalized for protein con- tent as means ± 1 SD for n ¼ 3 (A) or means for n ¼ 2 (B).

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in mitochondria [34,35], we next incubated

mtDNA-depleted cells for 72 h with 10 lm BAPTA, an

intra-cellular calcium chelator, before the mitochondrial

abundance was assessed with NAO staining (Fig 7B)

In these conditions, NAO fluorescence was reduced by

almost 40% in both mtDNA-depleted cell lines,

sug-gesting a decrease in mitochondrial population

Mitochondrial protein import for matrix-targeted

proteins is reduced in mtDNA-depleted cells

As mitochondrial biogenesis in mtDNA-depleted cells

most likely requires mitochondrial protein import, we

next assessed this process by two different

experimen-tal approaches We first adapted an in vitro assay,

that has been used mainly in yeast [81], to

quantita-tively determine the import of radiolabeled

mito-chondrial proteins targeted to the matrix in purified

mitochondria as visualized on the electron micrograph

of enriched mitochondrial fractions (Fig 8A) Two

precursor fusion proteins targeted to the

mitochond-rial matrix, the subunit-9 of the ATPsynthase–

dihidrofolate reductase (DHFR) and a truncated form

of the cytochrome b2 (b2(167)D-DHFR), have been

translated and radiolabeled with [35S]methionine in vitro

(Fig 8B) The mitochondria-associated radioactivity

was then measured on mitochondrial fractions of 143B

and rho0143B cells treated with proteinase K after

the import assay The global mitochondrial importwas reduced by 66% and 85%, respectively, forSu9-ATPase-DHFR and b2(167)D-DHFR proteins(Fig 8C,D) We next wondered if the reduced globalmitochondrial import of matrix proteins in mtDNA-depleted cells could be due to a decrease in theb-barrel Tom40 core of the TOM complex, throughwhich the precursor proteins are passing before beingtransferred to other mitochondrial compartments [82].This is not likely the case as the amount of Tom40 inpurified mitochondria is comparable in rho0 andparental 143B (Fig 8E) despite a strong increase in theexpression of Tom40 in both mtDNA-depleted cell

Fig 8 The mitochondrial protein import is reduced in mitochondria

isolated from mtDNA-depleted cells (A) Electron micrograph of an

enriched mitochondrial fraction prepared for the import assay and

illustrated for mitochondria purified from 143B cells analysed by

transmission electron microscopy Scale bar: 100 nm (B)

Autoradi-ography of the cytochrome b 2 and the ATPase subunit-9 chimeric

proteins translated and radiolabeled in vitro (10% of the output).

b2(167D)-DHFR consists of the first 167 amino acids of the

cyto-chrome b 2 precursor fused to the full-length mouse DHFR by a

lin-ker of two amino acids The cytochrome b2presequence consists

of an amino-terminal matrix-targeting sequence (residues 1–31) and

a sorting sequence (residues 32–80) Su9-DHFR contains the first

66 amino acids of the subunit-9 of Neurospora crassa ATPase

fused to DHFR (C,D) For the mitochondrial protein import assay,

isolated mitochondria (30 lg) from 143B and rho 0 143B cells were

incubated for 10 min at 25 C with reticulocyte lysate containing

35 S-labelled Su9-DHFR (C) or b2(167D)-DHFR (D) The import assay

was then stopped by the addition of 1 l M valinomycin To remove

nonimported preproteins, all samples were treated with proteinase

K (40 lgÆmL)1) for 15 min on ice After mitochondria isolation,

asso-ciated radioactivity was counted Results are presented as

repre-sentative data for three independent experiments and expressed in

c.p.m as means ± 1 SD (E) Western blotting analysis of b-ATPase,

Tom40 and Tim44 abundance performed on mitochondrial purified

fractions of 143B and rho 0 143B cells.

C

D

E

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lines as shown by western blot analysis of clear cell

lysates and immunostaining (supplementary Fig S3)

In addition, western blot analysis of mitochondrial

fractions prepared from 143B and rho0143B cells

revealed that the abundance of b-ATPase and Tom40

is similar in both cell lines while Tim44, an important

effector of mitochondrial protein import that interacts

with mtHsp70 (mitochondrial heat-shock protein 70)

[41], could only be detected in parental cells (Fig 8E)

While we cannot rule out that the abundance of the

various markers in the mitochondria of

mtDNA-deple-ted cells may result from a different degradation of the

different proteins in the mitochondria of cells depleted

of mtDNA, these results indicate that endogenous

mit-ochondrial proteins might be differentially imported in

the mitochondria of mtDNA-depleted cells

In order to extend our data on the mitochondrialprotein import in mtDNA-depleted cells in situ, theimport activity was also determined in rho-L929 cellstransfected with a cDNA encoding a chimeric proteincontaining HA-tagged apoaequorin and the mito-chondrial presequence of the COXVIII subunit thatspecifically targets the fusion protein to the mitochond-rial matrix [83] Confocal microscopy observations(Fig 9A) and quantitative analysis of fluorescence sig-nals on sections of cells immunostained for HA-taggedapoaequorin and cyt c, used as a mitochondrial mar-ker, revealed a decrease in the colocalization betweenboth proteins in the mitochondria of rho-L929 as evi-denced by the reduced match of fluorescence signalsfound in the overlapping fluorescence profiles for thesecells (Fig 9B)

of HA-apoaequorin in a transfected cell (green), abundance of endogenous cyt c (red), and colocalization (overlay) were then visualized by confocal microscopy after the immunostaining of both proteins (B) Analy- sis of fluorescence intensity perfomed for HA-apoaequorin (green) and cyt c (red) on cell sections using the QUANTIFY software from Leica Fluorescence intensity profiles showing expression level and colocalization are plotted from A to B direction for L929 and rho-L929 cells (representative of about

30 analyses).

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