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Therefore, it becomes imperative that the Keywords alkaloids; anticancer agent; click chemistry; ethidium derivative; G-quadruplex; human telomere; metallo-organic complex; N-methylated

Trang 1

Human telomeric G-quadruplex: targeting with small

molecules

Amit Arora, Niti Kumar, Tani Agarwal and Souvik Maiti

Proteomics and Structural Biology Unit, Institute of Genomics and Integrative Biology, Delhi, India

Retraction: The following review from FEBS Journal, ‘Human telomeric G-quadruplex: targeting with small molecules’ by Amit Arora, Niti Kumar, Tani Agarwal and Souvik Maiti, published online on 27thNovember 2009 in Wiley InterScience (www.interscience.wiley.com), has been retracted by agreement between the authors, the journal Editor-in-Chief Professor Richard Perham and Blackwell Publishing Ltd The retraction has been agreed due to overlap between this review and the following reviews: Published in Organic & Biomolecular Chemistry, ‘A hitchhiker’s guide to G-quadruplex ligands’ by David Monchaud and Marie-Paule Teulade-Fichou Volume 6 Issue 4, 2008, pages 627–636 Published in BioChimie, ‘Targeting tel-omeres and telomerase’ by Anne De Cian, Laurent Lacroix, Ce´line Douarre, Nassima Temime-Smaali, Chantal Trentesaux, Jean-Franc¸ois Riou and Jean-Louis Mergny Volume 90 Issue 1, 2008, pages 131–155

Introduction

Aberrant cellular proliferation is associated with the

infinite extension of telomeric ends, mediated by

unusu-ally high telomerase activity or caused by abnormal

overexpression of the proto-oncogenes generally

required for cellular growth and differentiation [1–3]

As an anticancer strategy, efforts have been invested in

targeting and lowering telomerase activity, which is

often found to be overexpressed in cancerous cells [4,5]

However, the problem associated with telomerase tar-geting is that cells can adopt telomerase-independent mechanisms for telomere maintenance called alternative lengthening of telomere [6] This leads to skepticism about the use of telomerase inhibitors as anticancer agents because cells can quickly switch to alternative mechanisms and hence become resistant to telomerase inhibitors Therefore, it becomes imperative that the

Keywords

alkaloids; anticancer agent; click chemistry;

ethidium derivative; G-quadruplex; human

telomere; metallo-organic complex;

N-methylated ligands; proto-oncogenes;

telomerase

Correspondence

S Maiti, Proteomics and Structural Biology

Unit, Institute of Genomics and Integrative

Biology, CSIR, Mall Road, Delhi 110 007,

India

Fax: +91 11 2766 7471

Tel: +91 11 2766 6156

E-mail: souvik@igib.res.in

(Received 25 June 2009, revised 1

September 2009, accepted 28 September

2009)

doi:10.1111/j.1742-4658.2009.07461.x

Over the past few decades, numerous small molecules have been designed

to specifically and selectively target the unusual secondary structure in DNA called the G-quadruplex Because these ligands have been shown to selectively inhibit the growth of cancer cells, they have become a central focus for the development of novel anticancer agents However, there are many challenges which demand greater effort in order to devise strategies for rational drug design with utmost selectivity This minireview aims to reflect recent developments in the design of G-quadruplex ligands and also discusses the future outlook for designing more effective G-quadruplex interacting ligands

Abbreviations

Dppz, dipyridophenazine; NCQ, neomycin capped quinacridine.

Trang 2

mechanisms of telomere maintenance are targeted, by

impinging on the structure and function of telomeric

ends [7] Telomeres can organize structurally into

different conformations, for example, the G-rich

single-stranded DNA overhang can adopt an unusual

four-stranded DNA quadruplex structure, and

stabiliza-tion of this structure by ligands would render the 3¢

overhangs unavailable for hybridization with the

telo-merase template for the extension of telomeric ends [7]

Further, ligand binding and stabilization of the

quadru-plex structure affect the recruitment of

telomere-associ-ated proteins required for the capping and maintenance

of telomeric ends In addition to telomeric ends, the

pro-moter regions of proto-oncogenes also harbor

G-quad-ruplex motifs It has been observed that targeting the

quadruplex motif in the promoter of proto-oncogenes

with quadruplex-interacting ligands decreases the

tran-scriptional activity of these proto-oncogene and helps to

combat aberrant proliferation These observations are

encouraging many laboratories to synthesize

quadru-plex-interacting ligands Given the rich diversity of

G-quadruplex scaffolds and their propensity to

inter-convert, it will be a challenge to identify small molecules

that exhibit recognition selectivity for diverse scaffolds

at the cellular level There is a general notion that

bind-ers that stabilize the G-quadruplex structure may pave

the way for the discovery of novel anticancer agents A

key feature of appropriate molecules are large flat

aromatic systems involved in p-stacking with the

G-tet-rad platform and possess reasonable water solubility,

i.e the molecule should display both hydrophobic and hydrophilic characteristics Various scaffolds have been synthesized to date, and both computational and chemi-cal–biological approaches have been used to understand quadruplex–ligand interaction

N-methylated ligands

N-methylated ligands, quaternized on the aromatic ring nitrogens, have been thoroughly exploited because of their low electron density, which in turn leads to increased p-stacking of the aromatic part as well as reasonable water solubility without the need for cationic side chains TMPyP4 is the pivotal example of this family of ligands (Fig 1) This tetracationic porphyrin has been shown to have high affinity for G-quadruplex,

to efficiently inhibit telomerase and is also known to downregulate the expression of oncogenes such as c-myc

or k-ras, along with its potency to convert antiparallel topologies to parallel forms of quadruplexes [8–15] Despite the nonselectivity of TMPyP4 for the quadru-plex structure [16–18], interest in this particular mole-cule has never declined TQMP68 and 3,4-TMPyPz (Fig 1) [19] are two examples of porphyrin-based tetra-cationic macrocycles, which have been shown to bind efficiently to quadruplex DNA TMPyP4-related ligands carrying 1–3 N-methylpyridinium arms [20], as well as structurally related corroles [21], have also been described An important advance in the porphyrin series came with the design of a diselenosapphyrin Se2SAP

N

N

N

N

NH

N

N

HN

N N N HN N

N

N N

N

Se

N

Se

N

N

N N

OH HO

TQMP

Fig 1 Chemical structures of N-methylated ligands: TMPyP4, 3,4-TMPyPz, TQMP,

Se2SAP.

Trang 3

(Fig 1), with an expanded porphyrin core [22,23].

Se2SAP showed 50-fold selectivity for quadruplex DNA

over duplex DNA and was able to discriminate among

the various forms of G-quadruplex DNA

Ligands with protonable side arms

These ligands follow the presence of protonable side

arms (e.g amine groups) around an aromatic core

which makes the molecule water soluble, with the

charge(s) far from the hydrophobic center

Bis-amidoanthraquinone is one example which has been

shown to be a G-quadruplex ligand, telomerase

inhibi-tor [24] and possesses IC50values in the low lm range

[25,26] To address selectivity problems, Neidle and

co-workers modified the core and side arms of the

initial ligands from anthraquinone to fluorenone [27],

then acridone [28] and acridine [29,30] A crystal

struc-ture of a complex of BSU6039 (Fig 2), a member of

the 3,6-disubstituted acridine series with G-quadruplex

was obtained [31] Based on the concept of p-stacking

interactions and electrostatic interactions between the

quadruplex and the ligand, an optimized prototype

BRACO-19 (Fig 2) was designed, which was able to

interact with the G-quadruplex structure [32,33]

BRACO-19 has also been shown to inhibit cancer cell

proliferation [34] Modification of the 9-amino

substi-tuent of BRACO-19 from an aniline to a

difluoroben-zylamine group was also carried out to circumvent the

problem of cellular uptake of BRACO-19 [35] There

are reports of interaction studies between

G-quadru-plex DNA and the perylene diimide PIPER (Fig 2)

[36] This molecule consists of a broader hydrophobic

core, with two external amine appendages This family

of compounds displayed moderate telomerase

inhibi-tion activity but showed 42-fold selectivity for

quadru-plex DNA over duquadru-plex DNA at pH 7.0 and pH 8.5

[37–39] Biological experiments showed the cellular

uptake of such ligands, thereby suggesting them as

potential G-quadruplex binders [40,41] Well-known

duplex-binding ligands like daunomycin [42],

dista-mycin and netropsin [43] have also been tested as

G-quadruplex-binding ligands Several flavonoid

[44,45] or steroid derivatives [46] have also been shown

to bind quadruplexes with variable efficiency

Another class of ligands known as pentacyclic

acri-dines and quinacriacri-dines (which possess a crescent

shape) likely to maximize overlap with the guanines of

the accessible G-quartet, has been developed RHPS4

(Fig 2) is one example of a pentacyclic acridine-based

G-quadruplex interacting ligand A number of in vitro

and in vivo reports have shown that RHPS4 is a

poten-tial molecule for cancer therapy because it targets

G-quadruplex structures at the telomeric ends [47] This molecule has recently also been used in preclinical trials for solid tumors [48] MMQ3 (Fig 2), a com-pound of the quinacridine family, showed remarkable G-quadruplex stabilization and high telomerase inhibi-tory activity [49] An NMR structure for a complex of MMQ1 (dipropylamino analogue of MMQ3) with tet-ramolecular quadruplex is also available [50] Another compound BOQ1 (Fig 2), a dimeric macrocyclic quin-acridine, showed improved quadruplex stabilization, better overall selectivity than the monomeric series and efficient telomerase inhibitory activity [51–53] The crescent-shape particularity of quinacridine has also been found in several other ligands (Fig 2), such as indoloquinolines [54–56], cryptolepine and its analogues [57], quindolines [58–61] and triazacyclo-pentaphenantrene [62]

Alkaloid-based ligands

Alkaloid-based ligands like berberine (Fig 3) and its synthetic derivative have been examined for G-quadru-plex binding and their ability to inhibit telomerase Results show that these molecules have selectivity for G-quadruplex compared with duplex DNA, and that their aromatic moieties play a dominant role in quad-ruplex binding Our group has also investigated the complete thermodynamic profile of the berberine–telo-meric quadruplex interaction using spectroscopic, calorimetric and molecular modeling studies [63] Fur-thermore, interaction of 9-substituted derivatives with human telomeric DNA indicated that these compounds can induce and stabilize the formation of antiparallel telomeric G-quadruplex in the presence or absence of metal cations [64] Introduction of a side chain with the proper length of methylene and a termi-nal amino group at the 9-position of berberine resulted

in increased binding with G-quadruplex, thus leading

to higher inhibitory effects on the amplification of 21-mer telomeric DNA and on telomerase activity Recently, the interaction of 9-N-substituted berberine derivatives (Fig 3) with c-myc quadruplex has also been studied and the results indicated that these deriv-atives may selectively induce and stabilize the forma-tion of intramolecular parallel G-quadruplex in c-myc, thus leading to downregulation of the transcription of c-myc in the HL60 lymphomas cell line [65] In addi-tion to berberine, other alkaloids such as palmatine and sanguinarine also demonstrate moderate quadru-plex-binding abilities; however, the introduction of protonable functional groups might further enhance their recognition and stabilization abilities Isoindigo-tone (Fig 3), a naturally occurring alkaloid with a

Trang 4

unique asymmetric chromophore comprising an

ali-phatic five-member ring in the middle core has been

shown to serve as a new scaffold for unfused aromatic

quadruplex ligands The introduction of at least two

cationic side chains to the chromophore resulted in enhanced selectivity and solubility [66] Interestingly,

in a pharmacophore-based virtual screening, two non-planar alkaloid-based G-quadruplex ligands were

N

N HN

Cryptolepine

N HN N

H 3 C

H 3 C

O

CH 3

y

HN

R

HN O

Triazacyclopentaphenanthrene

X HN

N

Quindoline, X= NH or O and

R= different groups

R

BRACO 19

N

N O O

PIPER

R = H, BSU6039

R = NH-p-C 6 H 4 -N(CH 3 ) 2 ,

N

N

N

N HN

N

N

N N

HN NH

R 1

NH(CH 2 ) n N(CH 3 ) 2 NH

NH

HN

HN

R 2

BOQ1 Benzoindoloquinoline

Fig 2 Chemical structures of ligands with protonable side arms: BSU6039, BRACO-19, PIPER, RHPS4, MMQ 3 , BOQ1,

benzoindoloquinoline, cryptolepine, triazacyclopentaphenanthrene, quindoline.

Trang 5

found These two ligands exhibit good capability for

G-quadruplex stabilization and prefer binding to

para-lleled G-quadruplex rather than to duplex DNA These

results have shown that planar structures are not

essential for G-quadruplex stabilizers, which may

rep-resent a new class of G-quadruplex-targeted agents as

potential antitumor drugs [67]

Click chemistry-based ligands

Click chemistry is a chemical approach which

synthe-sizes new drug-like molecules by joining readily

avail-able smaller units together using simple chemical

reactions aided by catalysts to reduce large enthalpy

hurdles Neidle and co-workers [68] introduced the

concept of click chemistry in designing G-quadruplex

binding ligands The resulting bistriazole derivatives

showed good quadruplex stabilization with a high

degree of selectivity, although they appeared to be

moderate telomerase inhibitors A compound named

neomycin-capped quinacridine (Fig 4) was developed

in which neomycin and a quinacridine moiety were

conjugated to target the loop and G-quartet of the

quadruplex, respectively [69] Neomycin-capped

quin-acridine showed preferential binding to

loop-contain-ing quadruplexes compared with nonloop-containloop-contain-ing

quadruplexes, along with efficient quadruplex

stabiliza-tion and strong telomerase inhibitory activity, thus

fully validating the design The presence of three

amino appendages on the same face of the tri-oxazole

macrocycles (Fig 4) resulted in selective stabilization

of one form of quadruplex over another, as shown by

the preferential binding of tri-oxazole macrocycles to

c-kit quadruplex rather than the human telomeric one

[70] Furthermore, isoalloxazines (Fig 4) have also

been shown to bind to c-kit quadruplex with 14-fold selectively over the telomeric quadruplex [71], thereby opening up a possibility for the design of a second generation of ligands capable of selectively altering the expression of a given gene Recently, copper(I)-cata-lyzed ‘click’ chemistry was used to design a series of diarylurea ligands (Fig 4) These ligands demonstrated

a high degree of selective telomeric G-quadruplex sta-bilization and were not cytotoxic in several cancer cell lines [72] Moreover, urea-based nonpolycyclic aromatic ligands with alkylaminoanilino side chains as G-quadruplex DNA interacting agents have been developed (Fig 4) [73] Using spectroscopic experi-ments, it was demonstrated that they have significant selectivity over duplex DNA, and also for particular G-quadruplexes Preliminary biological studies using short-term cell growth inhibition assays showed that some of the ligands have cancer cell selectivity, although they appear to have low potency for intracel-lular telomeric G-quadruplex structures, suggesting that their cellular targets may be other, possibly oncogene-related, quadruplexes Balasubramanian and co-workers [74] developed a series of trisubstituted acri-dine–peptide conjugates (Fig 4) and explored the abil-ity of these ligands to recognize and discriminate between different quadruplexes derived from the human telomere, and c-kit and N-ras proto-oncogenes Our group reported the binding properties of 18- and 24-membered cyclic oligopeptides (Fig 4) developed from a novel furan amino acid, 5-(aminomethyl)-2-furan-carboxylic acid, to G-quadruplex Comparative analysis

of the binding data of these ligands with G-quadruplex and double-strand DNA shows that 24-membered cyclic peptides are highly selective for telomeric G-quadruplex structures and thus can be used as a scaffold to target quadruplex structures at the genomic level [75]

Ethidium derivatives as G-quadruplex ligands

Mergny and co-workers [76] reported the use of

ethidi-um derivatives as G-quadruplex ligands (Fig 5) The results showed G-quadruplex stability and telomerase inhibition activity as well as quadruplex over duplex selectivity However, because of the well-known toxic and mutagenic properties of ethidium bromide, researchers developed a novel and safer series of G-quadruplex ligands, derived from triazine [77–79] One of the member of the series known as 12459 (Fig 5) displayed selective stabilization of G-quadru-plex and also strongly inhibited telomerase activity Triazines were followed by a structurally related bis-quinolinium series containing a pyridodicarboxamide

N +

O

CI

-N

N O

H N (CH 2 ) n

R N

O (CH 2 ) n

9-N substituted Berberine derivatives, R substituted Berberine derivatives, R represents different groups

O O

N

O

OH N

OH

O

Isaindigotone Berberine

Fig 3 Chemical structures of alkaloid-based G-quadruplex ligands:

berberine, 9-N-substituted derivatives and isaindigotone.

Trang 6

peptide O

NH

N N

9-peptide acridine

O O N

X O

O X O

O

H

H

O O

O

O

HN NH

O

O 1: X = NH 3

2: X = NHCOCH CH NH +

H O 2: X = NHCOCH 2 CH 2 NH 3

Furan based ligands

O

HO

O

NH 2

O

HO

H 2 N

OH OH

O NH 2

NH 2 O

O HO

HN

OH

O 2

HN O

O HO

NH

O N

NH HN N O

O 2

NH 2

NH 2

NH 2

NH

NH 2

NH

O N

HN O

N

Tri-oxazole macrocycles

R 2

N

R 1

O

N N R 1 O

Trisubstituted isoalloxazines, R1 and R2 represents different groups

O

O

O

N N

N N

O O

N

O

R R

( ) n

( ) n

Diarylurea based Ligands

NH N

N N

peptide peptide

3,6- bis acridine-peptide conjugates

Fig 4 Chemical structures of click chemis-try-based G-quadruplex ligands: neomycin capped quinacridine (NCQ), tri-oxazole macrocycles, trisubstituted isoalloxazines, diarylurea ligands, 3, 6-bis acridine–peptide conjugates, 9-peptide acridine and 5-(amino-methyl)-2-furancarboxylic acid (furan)-based G-quadruplex ligands.

Trang 7

core (Fig 5) [80,81] Two compounds of the

pyridodi-carboxamide series, namely 307A and 360A, exhibited

a high degree of quadruplex stabilization, exquisite

quadruplex over duplex selectivity, and were able to

induce efficient inhibition of telomerase These

com-pounds have also been shown to induce delayed

growth arrest and apoptosis in immortalized cell lines

These results are particularly impressive with regard to

the structural simplicity of the series and its two-step

synthesis [81] Remarkably, tritiated 360A has also

been shown to localize preferentially at the telomeric

regions of chromosomes, thus providing new evidence

of the existence of quadruplex in a cellular context

[82] Pyridodicarboxamide derivatives have also been

shown to induce the formation of tetramolecular

quadruplexes and act as molecular chaperones, thereby

proving their efficiency as G-quadruplex binders [83]

Moreover, the pyridodicarboxamide family of ligands

has been extended with the synthesis of phenanthroline

analogues Phenanthroline-DC (Fig 5) showed a

perfect geometrical match with a G-quartet and was

found to be remarkably more selective than

telomesta-tin, thus confirming the great potential of

bisquino-linium compounds [84,85]

Metallo-organic complex as

G-quadruplex ligand

A class of metallo-organic complexes has emerged as

highly interesting molecules because of their easy

syn-thetic access and their promising G-quadruplex

bind-ing properties This approach is based on the

hypothesis that the central metal core could be

posi-tioned over the cation channel of the quadruplex, thereby optimizing stacking interactions between the surrounding chelating agent and the accessible G-quar-tet [30] The presence of a cationic or highly polarized nature is also a further advantage in promoting an association with the negatively charged G-quadruplex DNA The first reported examples described the inser-tion of a metal in the central cavity of TMPyP4 and their use as Cu(II)– [86,87], Mn(III)– [88], etc A spec-tacular 10 000-fold selectivity for quadruplex over duplex has been measured by SPR for the highly cat-ionic Mn(III)–porphyrin complex [88] Moreover, Cu(II)– and Pt(II)–terpyridine complexes can also be obtained in one-step or two-step processes and these ligands possess high affinity and high selectivity for the G-quadruplex [89] Recently, a series of platinum(II) complexes containing dipyridophenazine (dppz) and C-deprotonated 2-phenylpyridine (N-CH) ligands have been developed and their G-quadruplex DNA-binding potential assayed [PtII(dppz-COOH)(N-C)]CF3SO3 (1; dppz-COOH = 11-carbotxydipyrido [3, 2-a: 2¢, 3¢-c] phenazine) binds G-quadruplex DNA through an external end-stacking mode with a binding affinity in the order of 107m)1 Using a biotinylated-primer extension telomerase assay, the same molecule was also shown to be an effective inhibitor of human telomerase

in vitro, with an IC50value of 760 nm [90]

Neutral ligands

The category of neutral ligands is not the largest but it includes the paradigm for G-quadruplex recognition, namely telomestatin (Fig 6) This is isolated from Streptomyces annulatus [91] and has been extensively studied because it appears to be one of the most inter-esting G-quadruplex ligands [10,91–100] Indeed, this molecule greatly stabilizes the G-quadruplex and appears to be one of the most selective G-quadruplex ligands: > 70-fold The total absence of an affinity for

N

HN

H 2 N

NH 2

N +

+

NH 2

N

N

H 2 N

N N

N N

N

d a i L 9 4 1 e a e i z i r T s

v i

t

a

i

r

e

m

u

i

d

i

h

t

E

N

N N

NH HN

PDC core

PhenDC3

Fig 5 Chemical structures of ethidium derivatives as G-quadruplex

ligands: ethidium derivatives, 2, 4, 6-triamino-1, 3, 5-triazine

deriva-tive (12459), pyridodicarboxamide (PDC) core and phenanthroline

analogues (Phen-DC 3 ).

N O

O N

O

N N R

NH

R HN O

O O

N O N

O O

O

R = CH(CH 3 ) 2 R = CH 2 OH

Telomestatin Hexa-oxazole macrocycles

Fig 6 Chemical structures of neutral ligands: telomestatin and hexa-oxazole macrocycles.

Trang 8

duplex DNA because of its neutral character and

cyc-lic shape justifies the initial strong bend towards this

molecule It has also been reported to inhibit the

pro-liferation of telomerase-positive cells, by modifying the

conformation and length of the telomeres, and the

dis-sociation of telomere-related proteins from telomeres

Nevertheless, two major drawbacks of telomestatin are

that it is difficult to obtain and it has poor water

solu-bility The complete synthesis of telomestatin seems to

be highly complex and is not compatible with

large-scale preparation [101] There are also a few reports in

literature on macrocyclic hexaoxazole ligands and their

interaction with telomeric G-quadruplex [102]

HXDV and HXLV-AC (Fig 6) are two synthetic

hexaoxazole-containing macrocyclic compounds which

have been characterized for their cytotoxic activities

against human cancer cells Their detailed binding and

thermodynamics of interaction with the intramolecular

(3+1) G-quadruplex structural motif formed in the

presence of K+ ions by human telomeric DNA has

also been reported [103]

Examples of ligands belonging to different classes

are also summarised in Table 1

Mode of action of telomeric

G-quadruplex binding ligands

The unlimited proliferative potential of cancer cells

depends on telomere maintenance, which in turn

makes telomeres and telomerase an attractive target

for cancer therapy [104] Most telomere-targeted

antitumour strategies address the

telomerase-depen-dent mechanism of telomere maintenance It is well

reported that formation of intramolecular

G-quadru-plexes by the telomeric G-rich strand inhibits telomerase activity [105] Therefore, ligand-induced stabilization

of intramolecular telomeric G-quadruplexes provides

an attractive strategy for the development of antican-cer agents Molecules that target telomeric DNA were initially considered to be telomerase inhibitors [24,106,107] However, this strategy cannot be considered feasible as a cancer-specific approach because normal cells also have telomeres and bear quadruplex potential Nevertheless, it is possible that telomeres from normal and cancer cells exhibit differ-ences in structure or accessibility and that a telomere ligand could exhibit selective toxicity In this mini-review, we also discuss the role of G-quadruplex binding ligand on telomerase enzyme, as well as the direct effect on telomeres, thus altering telomere maintenance

Proteins of the telomerase complex More than 30 proteins have been proposed to be asso-ciated with the telomerase enzyme complex (Table S1

in [108]) It has been shown that the active complex is composed of three different components, hTERT, hTR and dyskerin, with two copies of each However, regu-lation of the relative expression levels of hTERT, hTR and dyskerin is poorly understood It is known that methylation of the promoter and 50 exons may lead to repression of hTERT expression in normal cells [109] Recently, evidence for a molecular link between choles-terol-activated receptor Ck and hTERT transcription has been reported [110] Moreover, it has also been shown that the core hTR promoter is activated by Sp1 and is repressed by Sp3 [111,112]

Table 1 Examples of ligands belonging to different classes.

N-methylated ligands TMPyP4, TQMP68, 3,4-TMPyPz, tetramethylpyridiniumporphyrazines, corroles, Se2SAP

Ligands with protonable

side arms

Bisamidoanthraquinone, fluorenone, acridone, acridine, BSU6039, BRACO-19, benzylamino-acridine, perylene diimide PIPER

Daunomycin, distamycin and netropsin, flavonoids, steroids RHPS4, MMQ3, MMQ1, BOQ1, indoloquinolines, cryptolepine analogues, quindolines and triazacyclopentaphenantrene

Alkaloid-based ligands Berberine derivatives, palmatine sanguinarine, isoindigotone

Click chemistry-based

ligands

Bistriazole derivatives, neomycin-capped quinacridine, tri-oxazole macrocycles, isoalloxazines, diarylurea-based ligands and substituted derivatives, trisubstituted acridine–peptide conjugates, furan-based macrocycles

Ethidium derivatives Triazine 12459, pyridodicarboxamide core containing 307A and 360A, tritiated 360A phenanthroline analogues Metallo-organic complex Cu(II)–TMpyP4 complex,Mn(III)–TMPyP4 complex, Cu(II) and Pt(II)–terpyridine complexes,

PtII(dppz-COOH)(N-C)]CF3SO3 Neutral ligands Telomestatin, hexaoxazole-containing macrocyclic HXDV and HXLV-AC

Trang 9

Proteins involved in the protection of telomere

extremities (shelterin/telosomes)

During the last decade, proteins that protect the

telo-mere extremities have been identified and ascertained

to make up a complex called the telosome [113] or

shelterin [114] This complex is principally composed

of six proteins Three of these bind directly to the

telo-meric repeats: TRF1, TRF2 and POT1 TRF1 and

TRF2 have Myb-type DNA-binding domains [115],

whereas POT1 has two oligonucleotide⁄ oligosaccharide

binding domains and displays a strong preference for

the single-stranded telomeric sequence relative to

dou-ble-stranded DNA [116] The three other proteins are

TIN2, which binds TRF1 and TRF2, TPP1, which

binds TIN2 and POT1, and Rap1, which binds TRF2

[117] TRF2 is shown to be involved in strand invasion

and T-loop formation [118,119] and in combination

with telomerase deficiency, has been most strongly

implicated in carcinogenesis [120] Overexpression of

TRF2 also reduces telomeric, but not genomic,

single-strand break repair [121] Recently, it has been shown

that TPP1⁄ POT1–telomeric complex increases the

activity and processivity of the human telomerase core

enzyme [122,123] Shelterin partners also associate with

Apollo, a novel component of the human telomeric

complex that, along with TRF2, appears to protect

chromosome termini from being recognized and

pro-cessed for DNA damage [124,125] Inactivation of

either TRF2 or POT1 [126,127] leads to variation in

the overall length of the single-stranded G overhang,

aberrant homologous recombination [128] and also

induces a specific DNA damage response at most

telo-mere ends [129] These studies are consistent with the

view that telomere ends are engaged in a peculiar

structure in order to protect their integrity

Possible role of G-quadruplex binding ligands as

telomerase inhibitors

G-quadruplex ligands were first evaluated as

telomer-ase inhibitors and could conceivably induce telomere

shortening and replicative senescence [130] Long-term

treatment of human cancer cells with subtoxic doses of

disubstituted triazines or telomestatin induces

progres-sive telomere shortening that correlates with the

induc-tion of senescence [77,79,131,132] This telomere

shortening may be the result of inhibition of

telomer-ase and⁄ or telomere replication A similar

pheno-menon was noticed in human cells treated with

telomestatin, a new steroid derivative, and BRACO-19

[46,95,133] This may intuitively be the result of

telo-merase inhibition, but as we discuss below, such

short-term loss may also be the result of telomere replication inhibition and⁄ or telomere dysfunction Some of these ligands were able to downregulate telomerase expres-sion in treated cells [79,131,134,135]

Direct effects of G-quadruplex ligands on telomeres: induction of telomere dysfunction Earlier studies have demonstrated a short-term response (apoptosis) induced by G-quadruplex ligands that could not be explained solely by telomerase inhi-bition [79,81,131] After just 15 days of exposure, sub-toxic concentrations of the G-quadruplex ligands RHPS4 or BRACO-19 can trigger growth arrest in tumor cells, before any detectable telomere shortening occurs [134,135] Modifications of hTERT or hTR can interference with the telomere capping function, which

in turn leads to short-term and massive apoptosis Overexpression of either hTERT or a dominant nega-tive of hTERT in a telomerase-posinega-tive cell line evidently does not modify the antiproliferative effect of the triazine derivative 12459 (formula shown in Fig 5) [77] The observation that BRACO-19 causes chromo-some end-to-end fusion marked by the appearance of p16-associated senescence led to the idea that G-quad-ruplex ligands act primarily to disrupt the telomere structure [136] Such telomeric dysfunction was also observed in cell lines treated with other quadruplex ligands and in cell lines resistant to a triazine deriva-tive, as evidenced by the typical images of telophase bridges [81,137,138] These studies suggest that the direct target of these ligands is the telomere rather than telomerase

DNA damage pathways induced by G-quadruplex ligands

Telomeres effectively prevent the recognition of natural chromosome ends as double-stranded breaks It has previously been shown that telomere shortening or the loss of protective factors such as TRF2, TIN2 and POT1 activates a DNA damage response pathway [139] In addition, initiation of a DNA damage path-way was demonstrated in BCR-ABL-positive human leukemia cells after telomestatin treatment character-ized by the phosphorylation of ATM and Chk2 [131]

A similar DNA damage response ensues subsequent to telomestatin treatment in HT1080-treated cells as evidenced by the formation of gH2AX foci that par-tially co-localize at the telomere, thus suggesting the induction of telomeric dysfunction [95] A similar gH2AX response is elicited in the nucleus of UXF1138L uterus carcinoma cells upon the interaction

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of RHPS4 [140] The triazine derivative 12459 also

induces either senescence or apoptosis in the human

A549 pulmonary carcinoma cell line, in a

concentra-tion- and exposure time-dependent fashion [141]

Future perspectives

Although synthesis of small molecules to target the

quadruplex is attracting attention, there are many

chal-lenges which demand greater efforts if we are to devise

strategies for rational drug design with high selectivity

The common features that most quadruplex-interacting

ligands display are: (a) direct stacking with quartets,

(b) loop interactions or external stacking, and (c)

inter-actions between ligand substituents⁄ side chains and the

phosphate backbone of quadruplexes These properties

can be optimized for different quadruplexes, which

dis-play variations in loop length, composition and

topo-logies, so as to achieve discriminative quadruplex

targeting A recent study addressed the issue of ligand

selectivity by examining the distinct loop geometry in a

bimolecular quadruplex of Oxytrichia [142] However,

the limited structures available for quadruplex–ligand

complexes retard this exploratory strategy of drug

design for biologically relevant quadruplex structures

To circumvent this limitation there is the need to

adopt an integrative approach involving molecular

dynamics and biophysical techniques to obtain rapid

and accurate screening of quadruplex-interacting

ligands Virtual screening of chemical libraries by

molecular docking is one attractive approach adopted

to identify potential scaffolds The hits obtained from

the in silico search can be validated further through

biophysical methods involving spectroscopic and

calo-rimetric measurements, giving a quantitative idea of

the thermodynamic stability of the complex

Quadru-plex-forming sequences have an inherent ability to

adopt diverse structures, which are influenced by their

loop length and composition Therefore, a systematic

study of quadruplex–ligand interaction involving

quad-ruplexes of varying loop length and composition is

required Such an attempt has been made for telomeric,

c-myc and c-kit quadruplex–porphyrin interactions,

thereby establishing the influence of loop length and

composition in perturbing molecular recognition of the

quadruplex and its interaction with ligand However,

this dataset needs to be extended for other biologically

relevant quadruplexes Another notable observation is

that ligands which demonstrate a promising

perfor-mance in vitro usually display poor biological efficacy

This inconsistency between in vitro and in vivo results

can be attributed to molecular crowding conditions in

the cell Most in vitro experiments neglect the role of

molecular crowding agents, which have a major influ-ence on the structure of nucleic acids and the interac-tion with their partners Molecular crowding agents perturb the quadruplex–ligand interaction by influenc-ing the participation of water molecules Therefore, an important parameter that should be taken into account during molecular dynamics and biophysical studies is hydration and the associated changes in heat capacity upon complex formation

Lastly, the in vitro knowledge generated should be extrapolated to the cellular level to evaluate the thera-peutic potential of the ligands inhibiting telomerase and⁄ or perturbing the molecular recognition of quad-ruplexes and competing with transcription factor bind-ing Efficient molecular assays should be developed for the accurate estimation of inhibitory effects and related toxicity with appropriate control experiments [84] These molecular assays should be combined with glo-bal transcriptomic, proteomic profiling and tumor modeling studies for best candidate ligands to under-stand their therapeutic efficacy Because this quadru-plex–ligand field is booming, both chemists and biologists in conjunction could provide new molecular principles that may contribute to the emergence of effective anticancer therapies

Acknowledgement

Financial support for this work from the Department

of Science and Technology (Swarnajayanti project), Government of India, New Delhi to SM is gratefully acknowledged

References

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3 Ghosal G & Muniyappa K (2006) Hoogsteen base-pairing revisited: resolving a role in normal biological processes and human diseases Biochem Biophys Res Commun 343, 1–7

4 Fakhoury J, Nimmo GA & Autexier C (2007) Harness-ing telomerase in cancer therapeutics Anticancer Agents Med Chem 7, 475–483

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