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The aggregation propensities of this repeat peptide and its corresponding phosphorylated form were investi-gated using turbidity, thioflavin T fluorescence and electron microscopy.. Notabl

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self-aggregation ability of a peptide from the fourth tau microtubule-binding repeat

Jin-Tang Du1, Chun-Hui Yu1, Lian-Xiu Zhou1, Wei-Hui Wu1, Peng Lei1, Yong Li1, Yu-Fen Zhao1, Hiroshi Nakanishi2and Yan-Mei Li1

1 Key Laboratory of Bioorganic Phosphorus Chemistry and Chemical Biology (Ministry of Education), Tsinghua University, Beijing, China

2 Research Institute of Instrumentation Frontier, National Institute of Advanced Industrial Science and Technology, Ibaraki, Japan

Post-translational phosphorylation serves as a control

mechanism in a myriad of cellular processes including

metabolic pathway regulation, extracellular signal

transduction, ion channel regulation and cell-cycle

pro-gression [1] In other cases, abnormal phosphorylation

may be harmful; for example, hyperphosphorylation

causes the aggregation of microtubule-associated

pro-tein tau, which is implicated in Alzheimer’s disease

(AD) [2,3]

AD is the main form of dementia in today’s ageing

population [2] It is characterized by the presence of

two aberrant structures, senile plaques and

neurofibril-lary tangles The main components of neurofibrilneurofibril-lary

tangles are paired helical filaments (PHFs) [4], which

are mainly comprised of the protein tau in an

abnor-mally phosphorylated form [3] Tau protein, whose

main function is to stimulate and stabilize microtubule

assembly from tubulin subunits, is abundant in both the central and peripheral nervous systems [5] Tau stabilizes microtubules and regulates the transport of vesicles or organelles along them, it supports the outgrowth of axons and serves as an anchor for enzymes [6] Tau binds to microtubules via the micro-tubule-binding domain, which contains four copies of

a highly conserved 18-amino acid repeat, namely, R1, R2, R3 and R4, each of which is separated from another repeat by less conserved 13- or 14-amino acid inter-repeat domains [7] Although tau protein is water soluble and shows little tendency to aggregate under physiological conditions, it dissociates from microtu-bules and aggregates into PHFs in the brains of AD patients [8–12] Functionally, tau binds to tubulin, whereas PHF-tau does not [10–15] Because this aggre-gation leads to toxicity in neurons due to damage to

Keywords

aggregation; Alzheimer’s disease;

microtubule-binding repeat; phosphorylation;

tau

Correspondence

Y.-M Li, Key Laboratory of Bioorganic

Phosphorus Chemistry & Chemical Biology

(Ministry of Education), Department of

Chemistry, Tsinghua University,

Beijing 100084, China

Fax: +86 10 6278 1695

Tel: +86 10 6279 6197

E-mail: liym@mail.tsinghua.edu.cn

(Received 27 May 2007, revised 24 July

2007, accepted 30 July 2007)

doi:10.1111/j.1742-4658.2007.06018.x

Phosphorylation of tau protein modulates both its physiological role and its aggregation into paired helical fragments, as observed in Alzheimer’s diseased neurons It is of fundamental importance to study paired helical fragment formation and its modulation by phosphorylation This study focused on the fourth microtubule-binding repeat of tau, encompassing an abnormal phosphorylation site, Ser356 The aggregation propensities of this repeat peptide and its corresponding phosphorylated form were investi-gated using turbidity, thioflavin T fluorescence and electron microscopy There is evidence for a conformational change in the fourth microtubule-binding repeat of tau peptide upon phosphorylation, as well as changes in aggregation activity Although both tau peptides have the ability to aggre-gate, this is weaker in the phosphorylated peptide This study reveals that both tau peptides are capable of self-aggregation and that phosphorylation

at Ser356 can modulate this process

Abbreviations

AD, Alzheimer’s disease; PHF, paired helical filament; ThT, thioflavin T.

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the cell interior, it is important to clarify the

mecha-nism of aggregation of tau protein and develop ways

to prevent this pathological assembly

The microtubule-binding domain, located in the

C-terminal of tau protein, has been reported to assume

the core structure of PHFs and promote tau

aggrega-tion in vitro [16–18] We previously studied the

metal-binding properties and the effects of phosphorylation

on tau protein fragments Several tentative

explana-tions for PHF formation have been proposed [19–21]

It is also observed that the second (R2) and third (R3)

microtubule-binding repeats can aggregate with the

help of heparin [22] However, little such data

concern-ing the contribution of the R4 repeat to the formation

of PHFs and the modulation by phosphorylation have

been reported

Here, we investigate the aggregation propensity of

the R4 repeat using turbidity measurements,

thiofla-vin T (ThT) fluorescence and electron microscopy

Tur-bidity measurements are an excellent, widely adopted

method of quantifying aggregation in solution [23,24]

In addition, it has been suggested that phosphorylation

of some specific tau sites may be a prerequisite for

aggregation [25,26] Ser356, which is located in the R4

repeat, is one likely abnormal phosphorylation sites

[27] It is not clear how abnormal phosphorylation of

tau protein modulates aggregation In vitro, the

stimu-latory effects of phosphorylation on the aggregation of

tau have been reported [28] However, different

phos-phorylation sites may have different effects on filament

formation, and it is advantageous to study the effect of

only one confined phosphorylation site on a tau

pep-tide However, analysis of the effect of phosphorylation

at defined sites is hampered by the low specificity of

protein kinases and the highly dynamic turnover of

phosphorylation in vivo Site-directed mutagenesis,

which converts serine and threonine to aspartic acid

and glutamic acid, has been used to imitate

phosphory-lation [29] In our study, synthetic phosphopeptide was

used and the effect of phosphorylation on the tau

repeat fragment assembly was also studied

Recently, Wang et al showed that AD P-tau

dephosphorylated by protein phosphatase did not

aggre-gate into filaments, whereas several protein kinases

and their combinations can abnormally

hyperphos-phate protein phosphatase dephosphorylation of AD

P-tau and induce its self-aggregation into PHF similar

to those seen in AD It is, thus, important to learn how phosphorylation modulates the self-aggregation of tau This study focused on the aggregation propensity

of the fourth microtubule-binding repeat of tau peptide

in its unphosphorylated (R4) and also phosphorylated (pR4) form [30], to try and explain how phosphoryla-tion modulates the process of aggregaphosphoryla-tion at the molecular level Peptide R4 and phosphopeptide pR4 relating to the human tau protein (Table 1) were syn-thesized according to a solid-phase synthetic strategy Phosphopeptide pR4 was phosphorylated at Ser356 The structural differences between phosphopeptide and nonphosphopeptide were analysed using CD and high-resolution NMR spectroscopy The aggregation behav-ior of peptide R4 and phosphopeptide pR4 and the structural differences between them were then exam-ined using turbidity, ThT fluorescence and electron microscopy The results from turbidity measurements, ThT fluorescence and electron microscopy show that the R4 repeat and its phosphorylated form pR4 are capable of self-aggregation It is proposed that this repeat plays an important role in the aggregation of tau protein and phosphorylation is able to modulate the process of aggregation

Results

Phosphorylation of Ser356-induced conforma-tional change in peptide R4

To investigate the effect of phosphorylation at Ser356

on the native structure of peptide R4, both CD and NMR spectroscopy were performed

In NMR spectroscopy, TOCSY and NOESY spectra

of the two peptides were recorded and compared Changes in the backbone NH and aH chemical shifts upon phosphorylation (dphosphorylated–dnonphosphorylated) were shown for each residue A comparison of the chemical shifts of NH and aH between the non-phosphorylated and non-phosphorylated peptides is sum-marized in Fig 1 The chemical shift deviations of NH and aH reflect changes in the electrostatic state and molecular structure Upon phosphorylation at Ser356, the largest proton chemical shift deviation of NH and

aH was observed for Ser356 (downfield 0.41 p.p.m for

Table 1 Synthetic peptides corresponding to the repeat domain of the human tau441 sequence p, phosphorylation.

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NH and 0.10 p.p.m for aH) In general, the chemical

shift of NH deviates was more than that of aH upon

phosphorylation Notable chemical shift deviation of

NH and aH occurs mainly at the phosphorylation site

and sites proximal to it, and may reflect both intrinsic

effects through the covalent bond and the formation

of a hydrogen bond between phosphate and the amide

group [31,32], indicating that phosphorylation may

affect the local structure in the vicinity of the

phos-phorylated site

Identification of the hydrogen-bonding partners depends on detailed investigations into the pH depen-dence of their NMR parameters over the pH range 3–8 Obviously, the pH titration curve of the amide proton and the titration curve of 31P of phosphory-lated serine residue have the almost identical pK values, which indicate hydrogen-bonding interactions between phosphate and the amide group (Fig 2) An important result is that the titration parameters of the backbone amide proton of Ser356 remain virtually

Fig 1 Comparison of chemical shift differences of NH (white bar) and aH (black bar) between peptide R4 and phosphopeptide pR4 at pH 5.6 and 278 K Changes in chemical shifts upon phosphory-lation (dphosphorylated–dnonphosphorylated) are shown for each residue, positive values are downfield shifts and negative values are upfield shifts.

Fig 2 One-dimensional 31 P NMR spectra of pR4 with pH titration at 295K: (A) pH 3.0, (B) pH 3.9, (C) pH 4.9, (D) pH 5.6, (E) pH 6.6, (F) pH 7.5 (left) Changes with d1H NMR of amide protons in Ser356 and d31P NMR of the phosphate group during the pH titration of R4 and pR4 (right).

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unchanged in nonphosphopeptide R4 compared with

phosphopeptide pR4

In phosphopeptide, a phosphorylated serine acid

side chain contains a single titratable group

(phos-phate) with pKa1 and pKa2 The pKa value is

deter-mined from a fit of the phosphorus chemical shifts of

the without ionic, monoionic and diionic forms of the

phosphate group as a function of pH [33,34] The

phosphorus chemical shift change reflecting the

equi-librium between without ionic and monoionic form

(pKa1) is not observed in the pH range 3–8 [31,35]

The pKavalues of phosphate group for the equilibrium

between the monoionic and diionic form (pKa2) are

obtained from the changes of the phosphorus chemical

shift with pH titration (Fig 2)

Under acidic conditions, the phosphopeptide had

one negative charge and an intraresidue hydrogen bond

between the nearby amide proton and the phosphate

group As the pH increased, deprotonation began at

the phosphate group, and the hydrogen bond began to

surpass weakened electrostatic repulsion and led to the

amide proton chemical shift downfield Thus, the

Ser356 amide proton chemical shift downfield in the

phosphopeptide could be explained by the hydrogen

bond between the nearby amide proton and the

phos-phate group and deprotonation in the phosphos-phate

In phosphorylated peptide pR4, a hydrogen bond

between the nearby amide proton and the phosphate

group appears to be the driving force behind the

struc-tural changes that occur upon phosphorylation of

Ser356 In addition, the NMR spectra in water

sug-gested the presence, except for the major conformer, of

one or more minor conformations for the R4 peptide,

as evidenced by the appearance of additional

reso-nances of lower intensity than those in the major

con-former [21] However, only one major conformation

was observed in phosphopeptide pR4 CD spectra for

R4 and pR4 are characterized by a strong negative

apex at 198 nm (Fig 3), which indicates a large

amount of random coil structure [36] No remarkable

structural perturbation is suggested upon the

phos-phorylation of Ser356

Effect of phosphorylation on assembly

of the tau repeat

An aggregating study was performed in NaCl⁄ Pi, a

buffer widely used to mimic physiological conditions

[37,38] Electron microscopy, turbidity and ThT

fluo-rescence measurements confirm that both R4 and pR4

are capable of self-aggregation

The aggregation kinetics process was derived from

the time dependence of turbidity at 405 nm As shown

in Fig 4, both peptides showed little aggregation on day 1 However, the turbidity of both peptides increased sharply on the day 2, indicative of a nucle-ation step involved in the aggregnucle-ation Once the seed is formed, the filaments can form quickly In addition, peptide R4 aggregated more quickly than phospho-peptide pR4 on days 2–4 During day 5, phospho-peptide R4 aggregated at almost the same speed as on day 4, whereas the aggregation speed of phosphopeptide pR4 increased On day 6, the turbidity of both pep-tides had decreased somewhat, indicating that the aggregation had reached equilibrium According to the kinetic turbidity curve, a different intrinsic rate of nucleation of aggregation is suggested Filibration of R4 is considerably easier than that of pR4

In addition, the aggregation kinetics was also derived from the time dependence of the relative ThT

fluores-Fig 3 CD spectra of peptide R4 and phosphopeptide pR4.

Fig 4 Aggregation of peptide R4 and phosphopeptide pR4 as mon-itored by turbidity Peptides were dissolved in NaCl ⁄ P i , pH 7.4 (137.0 m M NaCl, 3.0 m M KCl, 10.0 m M Na2HPO4 and 2.0 m M

KH 2 PO 4 , ionic strength 160.0 m M ) to a final concentration of 1.0 mgÆmL)1 and incubated at room temperature The assembly time course of peptide R4 and phosphopeptide pR4 is plotted ver-sus the incubation time according to the turbidity at 405 nm.

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cence intensity at 485 nm in NaCl⁄ Pi (Fig 5) As

shown in Fig 5, the rate of filament formation was

much greater for R4 than for pR4, indicating

non-iden-tical filament formation for the R4 and pR4 peptides

Electron microscopy was also used to evaluate the

aggregation of peptide R4 and the effect of

phosphory-lation moduphosphory-lation on the process In contrast to the

typical long filament of peptide R4, negatively stained

images of polymerized phosphopeptide pR4 revealed

some thinner filaments (Fig 6) Electron microscopy

confirmed that phosphorylation in Ser356 was able to

modulate the aggregation form of R4 in vitro

Discussion

Knowing what regions of the protein tau are involved

in its aggregation into aberrant filaments and what

molecular structure is induced by aggregation are

criti-cal steps towards understanding the mechanisms

involved in the pathological aggregation of tau Tau

protein purified from brain extracts or

recombin-ant tau is able to aggregate in vitro at high protein

concentrations [39–41] However, it is difficult to study the mechanism of tau aggregation using the full-length tau molecule because some regions act as inhibitors of polymerization Furthermore, even if full-length tau obtained by recombinant means was used, it does not mimic the phosphorylation state of tau molecules com-prising PHFs [42] Therefore, despite the growing body

of data suggesting that different domains of the pro-tein may have different secondary structures [43], we decided to approach the problem by studying these factors in small tau fragments It has reported that fragments from the tubulin-binding motif of tau can assemble into filaments in vitro

At present, the contribution of the R4 repeat to PHF formation remains to be elucidated, even though the roles of the R2 and R3 repeats in the aggregation of tau have been reported [22] Moreover, there is no firm con-clusion concerning the effect of phosphorylation on aggregation In this study, we have shown that both peptide R4 and phosphopeptide pR4 are capable of self-aggregation without the need to add aggregation inducer in NaCl⁄ Pi, according to the results of electron microscopy, ThT fluorescence and turbidity experi-ments This leads to the suggestion that the R4 repeat might also play an essential role in PHF formation

in vivo The ability of the R4 repeat to self-aggregate implies that R4 repeats in the microtubule-binding domain might recognize each other and facilitate aggre-gation of the tau protein

To better understand the mechanism of PHF for-mation, the effects of phosphorylation on the confor-mation and aggregation of the R4 repeat were studied Introduction of the phosphate ion, which predominantly carries a double negative charge at neutral pH, affects the electrostatic potential and quite often the conformation of the modified protein Even in the absence of rearrangement, the change

in the electric field and steric hindrance from a phosphate group can have biologically significant

Fig 6 Electron microscopy images of

in vitro filaments of peptide R4 (left) and phosphopeptide pR4 (right) The black bar in the figure represents 100 nm.

Fig 5 Time profiles of peptide R4 and phosphopeptide pR4

aggre-gations in NaCl ⁄ P i as monitored by relative ThT fluorescence

inten-sity at 485 nm.

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consequences, e.g promoting or opposing protein–

protein interactions Phosphorylated side chains

typi-cally carry a )2 charge at physiological pH, although

the pKa of the phosphate group is  6, and the )1

species may be present in certain proteins or at low

pH Phosphorylation is a key cause of modification

in cellular regulation There is increasing evidence

that phosphorylation may influence filament

forma-tion in peptides and proteins [28,29] In this study,

phosphorylation at Ser356 exhibited a modulated

effect on aggregation compared with peptide R4 This

modulated effect of phosphorylation on aggregation

from the tubulin-binding motif might offer some clues

on its role in the progression of AD The modulation

of phosphorylation on aggregation might be essential

for the aggregation of tau protein in vivo The peptide

concentration used in this study is much higher than

in vivo, so the process of assembly is very clear in our

experiments, that is, the time needed for aggregation

is much shorter than in vivo It is likely that

phos-phorylation exerts its toxic effects in AD via different

aggregation behavior of the tau protein

The different aggregation behavior of peptide R4

and phosphopeptide pR4 might be explained by

con-sidering the different conformations of R4 and pR4 It

has been reported that phosphorylation can modulate

the structure of the first and third tau

microtubule-binding repeat, which in turn results in a change in

aggregation behavior [42,44] For R4 and pR4, a local

conformational difference was deduced from the

pro-ton chemical shift deviation of NH and aH However,

there was no remarkable structural perturbation from

the CD spectra Furthermore, our study has confirmed

that a hydrogen bond is formed between the phosphate

and the amide proton of the phosphorylated serine

res-idue in phosphopeptide pR4 [21] The hydrogen bond

is supposed to be the driving force behind the

struc-tural changes that occur upon phosphorylation So

how does phosphorylation alter the aggregation

behav-ior of peptide R4? A possible explanation is that

phos-phorylation might affect the kinetics of conversion of

the native structure to a filament-like structure [45] In

other words, phosphorylation might act through the

hydrogen bond to alter the structural proclivity among

different conformational states, which results in

differ-ent aggregation behavior

In conclusion, it is shown that the R4 repeat is

capa-ble of self-aggregation and phosphorylation at Ser356

can modulate the aggregation in the process of

assem-bly, implying that R4 repeat might also play an

impor-tant role in PHFs formation and phosphorylation at

Ser356 might serve as an aggregation modulation in

the progression of AD Study such as this may be

valuable in future research undertaken to clarify the pathophysiology of AD

Experimental procedures

Peptide synthesis

Peptides were synthesized on Fmoc-Wang resin using the standard Fmoc⁄ tBu chemistry and HBTU ⁄ HOBt protocol [46] For phosphopeptide, phosphoserine was incorporated

as Fmoc-Ser(PO3HBzl)-OH [47] Peptides and all protecting groups were cleaved from the resin with trifluoroacetic acid containing phenol (5%), thioanisole (5%), ethanedithiol (2.5%) and water (5%) for 120 min [48] Crude peptides were purified by reverse-phase HPLC using an ODS-UG-5 column (Develosil) with a linear gradient of 20–50% aceto-nitrile containing 0.06% trifluoroacetic acid as an ionpairing reagent The integrity of the peptide and phosphopeptide was verified by ESI-MS and NMR spectroscopy The synthetic peptides are listed in Table 1

CD

The peptides (1.0 mgÆmL)1) were dissolved in phosphate buffer, pH 7.6 (10.0 mm Na2HPO4) CD spectra were recorded on a Jasco model J-715 spectropolarimeter (Jasco, Tokyo, Japan) at 298 K under a constant flow of nitrogen gas Typically, a quartz cell with a 0.1 cm path length was used for spectra recorded between 190 and 250 nm with a 1-nm scan interval CD intensities reported in the figure are expressed in mdeg

NMR spectroscopy

Peptide samples for NMR measurements were dissolved in

H2O⁄ D2O 9 : 1 (v⁄ v) in 10.0 mm phosphate or sodium d4 -acetic acid buffer The pH value was adjusted by adding HCl or NaOH Sodium d4-2,2-dimethyl-2-silapentonate in a capillary tube was used as the external standard for 1

H NMR chemical shifts Standard NOESY [49] and

TOC-SY [50] experiments were collected on a Varian Inova-600 spectrometer (Palo Alto, CA, USA) or a Jeol ECA-600 spectrometer (Tokyo, Japan) The 31P NMR spectra were acquired on a Bruker ACP200 spectrometer with 85% phosphoric acid as the external reference Two-dimensional NMR data were processed using the nmrpipe⁄ nmrdraw program [51] A sinesquared window function shifted by

p⁄ 4) p ⁄ 2 was applied in both dimensions, with zero filling

in f1–2K points Quadrature detection in f1 was achieved using time proportional phase incrementation [52] H2O res-onance was suppressed either by presaturation of the sol-vent peak during the relaxation delay (and the mixing time

in the NOESY spectra) or by using a pulsed-field gradient technique with a WATER-GATE sequence [53,54] In

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general, spectra were collected with 2K points in f2 and 512

in f1

Identification of hydrogen bond using pH

titration experiments

The protocol to identify hydrogen-bonding interactions

between phosphate and the amide group was based on

changing the pH from acidic to basic [33,34] When a

cer-tain amide proton was involved in such a hydrogen bond

and downfield chemical shifts were observed during the pH

variation, which indicated the hydrogen bond between the

amide proton and phosphate pH values were measured

with a microcombination pH⁄ sodium electrode (Orion

Research, Inc., Beverly, MA) attached to an Orion 520A

pH meter Calibration of the pH meter was carried out at

room temperature using pH 4.00 ± 0.01, pH 7.01 ± 0.01,

and pH 10.00 ± 0.01 calibration buffers

Monitoring the aggregation of R4 and pR4 using

turbidity

Peptides (1.0 mgÆmL)1) were dissolved in NaCl⁄ Pi, pH 7.4

(137.0 mm NaCl, 3.0 mm KCl, 10.0 mm Na2HPO4, and

2.0 mm KH2PO4, ionic strength  160.0 mm) Identical

methods were used to prepare peptide samples utilized for

electron microscopy and ThT fluorescence experiments To

study aggregation, peptides (1.0 mgÆmL)1) were incubated

at room temperature in a nonbinding surface 96-well plate

The aggregation was monitored each day at the same time

via turbidity measurements at 405 nm on Wellscan MK3

instrument (Labsystems Dragon Co., MA, USA)

Monitoring of aggregation of R4 and pR4 using

ThT fluorescence

Peptides (1.0 mgÆmL)1) were dissolved in NaCl⁄ Pi and

incubated at room temperature During the incubation,

20.0 lL aliquots of the reaction solutions were added to

sodium phosphate buffer (700.0 lL) containing ThT

(10.0 lm) Fluorescence spectra were collected using a

Hit-achi F-4500 fluorescence spectrophotometer (Tokyo,

Japan) An excitation frequency of 440 nm was used, and

data were collected over the range of 450–600 nm Samples

were placed in a four-sided quartz fluorescence cuvette

(Mu¨llheim, Germany), and data were recorded at room

temperature The excitation slit width was set at 5 nm and

the emission slit width was set at 5 nm The background

fluorescence of the sample was subtracted when necessary

Transmission electron microscopy

Filaments were viewed by electron microscopy Negative

staining of the sample was performed on formvar- and

carbon-coated 300-mesh copper grids Samples were loaded

on the grid and left for 2 min for absorption and then stained with 1% tungstophosphoric acid for another 2 min After drying in a desiccator overnight, the samples were viewed on a JEOL-1200EX electron microscope at 100 kV

Acknowledgements

The authors are grateful for financial support from National Natural Science Foundation of China (Nos

20672067, 20532020, 20475032, and NSFCBIC 20320130046), and Innovative Research Team in Uni-versity (IRT0404)

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