Trends in Analytical Chemistry 72 (2015) 114–122 Contents lists available at ScienceDirect Trends in Analytical Chemistry j o u r n a l h o m e p a g e : w w w. e l s e v i e r. c o m / l o c a t e / t r a c Development of techniques for DNA-methylation analysis Li Zhang, Yu-Zhi Xu, Xiao-Feng Xiao, Jun Chen, Xue-Qin Zhou, Wen-Yuan Zhu, Zong Dai *, Xiao-Yong Zou ** School of Chemistry and Chemical Engineering, Sun Yat-Sen University, Guangzhou, 510275, China A R T I C L E I N F O Keywords: Bioaffinity reaction Biological recognition Bisulfite treatment Chemical cleavage Determination Direct oxidation DNA methylation DNA-methylation analysis Enzymatic digestion Epigenome research A B S T R A C T DNA methylation is an important mode of epigenetic modification and has great significance in biochemistry, medicine and genomics. The development of techniques for DNA-methylation analysis is fundamental and pivotal for epigenome research. In around 30 years of diligent study, direct and indirect approaches were developed. Direct approaches mainly focus on global methylation analysis, while indirect approaches rely on specific recognition of DNA-methylation loci. In this review, we introduce typical methods, especially those based on developing the method of methylation-loci recognition from the most used, bisulfite conversion, biological recognition, and the newly proposed chemical cleavage. Furthermore, we assess the perspectives on the research methodology of DNA-methylation analysis. To date, there have been few summaries of the research methodology of DNA-methylation analysis. The review is envisioned to be helpful for the researchers to design novel methods of DNA-methylation analysis. © 2015 Elsevier B.V. All rights reserved. Contents 1. 2. 3. Introduction ........................................................................................................................................................................................................................................................ Techniques for DNA-methylation analysis ............................................................................................................................................................................................... 2.1. Techniques based on bisulfite treatment .................................................................................................................................................................................... 2.1.1. Sequence-based analysis .................................................................................................................................................................................................. 2.1.2. Melting temperature-based analysis ........................................................................................................................................................................... 2.1.3. Interaction-based analysis ............................................................................................................................................................................................... 2.2. Techniques based on biological recognition .............................................................................................................................................................................. 2.2.1. Enzymatic digestion .......................................................................................................................................................................................................... 2.2.2. Bioaffinity reaction ............................................................................................................................................................................................................ 2.3. Bisulfite-free and enzyme-free techniques ................................................................................................................................................................................ 2.3.1. Direct-oxidation-based analysis .................................................................................................................................................................................... 2.3.2. Chemical-oxidation cleavage-based analysis ........................................................................................................................................................... Conclusions and perspectives ....................................................................................................................................................................................................................... Acknowledgement ............................................................................................................................................................................................................................................ References ............................................................................................................................................................................................................................................................ 114 115 115 116 117 117 117 118 119 119 119 120 120 120 120 1. Introduction Abbreviations: 5-caC, 5-Carboxylcytosine; 5-foC, 5-Formylcytosine; 5-hmC, 5-Hydroxymethylcytosine; 5-mC, 5-Methylcytosine; C, Cytosine; CE, Capillary electrophoresis; LC, Liquid chromatography; LOD, Limit of detection; MBD, Methylbinding domain; MTase, Methyl transferase. * Corresponding author. Tel.: +86 20 84112901; Fax: +86 20 84112901. E-mail address: daizong@mail.sysu.edu.cn (Z. Dai). ** Corresponding author. E-mail address: ceszxy@mail.sysu.edu.cn (X.-Y. Zou). http://dx.doi.org/10.1016/j.trac.2015.03.025 0165-9936/© 2015 Elsevier B.V. All rights reserved. DNA methylation is a most important epigenetic modification mode that plays key roles in gene-expression control [1]. DNA methylation exists in all living creatures and has several forms. In prokaryotes, it usually occurs on cytosine (C) in CCA/TGG and GATC. In eukaryotes, it occurs on purine, guanine, and mostly on C [2]. Under the catalysis of MTase, the fifth carbon of the C in dinucleotide 5′-CG-3′ can be selectively modified with a methyl group to form 5-mC. About 60–90% of 5′-CG-3′ dinucleotide in eukaryotes are methylated [3], and the unmethylated 5′-CG-3′ dinucleotide mostly L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 assembles in the structural gene promoter and the transcription start point to form “CpG islands”. The pattern of DNA methylation is inheritable [4] and changeable [5]. Normal expression of parental allele results in right gene expression and abnormal DNA methylation in parental allele generally causes miscellaneous cancers [6], genetic diseases and ageing abnormality [7]. Research for DNA methylation therefore has critical significance for medicine, life science and biochemistry. In 2003, a world-wide human epigenome plan (HEP) was launched, aiming to map the mutable sites of human DNA methylation and systematically study DNA methylation for tumor formation, human epigenetics, embryonic development and gene imprinting. In the HEP, the development of techniques for DNAmethylation analysis is fundamental and pivotal work, which is the focus of attention. In the past 30 years, the techniques for DNA-methylation analysis have been diligently developed in three groups classified according to the purpose of investigation: • • • liquid chromatography/electrospray ionization mass spectrometry (LC-ESI-MS) [8], LC-MS/MS [9], and SssI methylase analysis [10]; these techniques mainly focus on global methylation analysis, which aims to quantify the total amount of 5-mC in the genome; split β-lactamase sensor [11], methylation-specific multiplex ligation-dependent probe amplification [12], and methylationspecific single-strand conformation analysis [13]; these techniques are for gene-specific methylation analysis, which aims to evaluate specific methylation loci in the genome; and, searching for new methylation loci, which tries to reveal potential DNA-methylation loci in the genome; the approaches include inter-methylated sites amplification [14], methylation-sensitive restriction fingerprinting [15], and methylation-sensitive arbitrarily primed polymerase chain reaction [16]. These techniques for DNA-methylation analysis were summarized in several reviews in recent years [17–23]. However, these reviews commonly focus on specific aspects, such as research [17], the technology of methylation-specific quantum-dot fluorescence resonance-energy transfer (MS-qFRET) [18], MS [19] and biomarkers [20], and applications to body fluids [21], colon cancer [22], and the demethylation process [23]. To date, there have been few reviews on the research methodology of DNA-methylation analysis. In this review, we describe typical approaches to DNA-methylation analysis. Furthermore, we assess perspectives of the methodology research of DNA-methylation analysis. 115 We envisage this review being helpful to researchers designing novel methods of DNA-methylation analysis. 2. Techniques for DNA-methylation analysis The direct approach to DNA-methylation analysis is by utilizing LC or capillary electrophoresis (CE) to analyze the hydrolyzed DNA. The LC method was first utilized by Kuo in 1980 [24], and was further enhanced with PCR to be high-performance LC-PCR (HPLCPCR) [25]. With the application of MS {e.g., hydrophilic interaction liquid chromatography–tandem mass spectrometry (HILIC-MS/ MS) [26]}, the selectivity and the sensitivity of this technology were obviously improved. The detection range and the limit of detection (LOD) for 5-mC were 0.2–100 ng mL −1 and 45 pg mL −1 , respectively, and, for 5-hmC, analysis were 0.1–50 ng mL−1 and 57 pg mL−1, respectively. With the latest reported technique using octyl-modified quaternized cellulose in CE, the LODs for C and 5-mC were 1.1 μg mL−1 and 1.5 μg mL−1, respectively [27]. These technologies are not sensitive enough, and are merely utilized for global methylation analysis. In comparison with the above direct approaches, numerous other approaches are indirect methods that rely on specific recognition of DNA-methylation loci, and are followed with amplification of recognition processes or isolation of the recognized strands based on the changes in the properties of DNA strands. These methods commonly provide higher specificity and sensitivity for the analysis of DNA methylation. As to the methylation-loci-recognition method, the approach used most is by bisulfite conversion, and lots of techniques have been developed based on bisulfite treatment in combination (e.g., with CE, melting temperature, fluorescence, or electrochemistry). However, in terms of the reaction efficiency and procedural difficulty, the crude bisulfite treatment is not perfect and some biological technologies are used (e.g., restriction enzyme, mCpG antibody, or MBD). These methods still have the disadvantages of high cost and limited application range, leading to continuing investigation of new methods for methylation-loci recognition (e.g., the chemical-oxidation cleavage). Table 1 lists the typical techniques based on different means of recognition in the course of time, and we discuss the features and the limitations of each method in detail in the following. 2.1. Techniques based on bisulfite treatment Bisulfite treatment is a widely used, effective method for sorting 5-mC from unmethylated bases. During bisulfite treatment, the 5-mC Table 1 The typical determination techniques of DNA methylation in various periods Approaches Classification 1990–2000 2001–2010 Bisulfite treatment Sequence Bisulfite sequencing MS-PCR Ms-SnuPE MS-DGGE RRBS Melting Temperature Interaction Biological recognition Enzymatic digestion Bio-affinity reaction Bisulfite-free enzyme-free techniques Electrochemical analysis Chemical-cleavage-based analysis COBRA Methylight HPCE MS-MCA HRM MSO MS-DBA RLGS MS-RE-PCR/Southern Online-monitoring MBD COMPARE-MS CEIA MWCNTs/Ch/GCE C11H8O2 NaIO4/LiBr 2011–2014 E-msLDR Label-free technique CCP-FRET Zinc finger protein PPyox/MWCNTs/GCE COEXPAR Ref. [28,29] [30] [31] [32,33] [34] [35] [36–38] [39,40] [41,42] [43,44] [45] [46,47] [48] [49] [50,51] [52,53] [54] 116 L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 Fig. 1. The main analysis approaches for 5-mC after bisulfite treatment. in the gene is unchanged while C is specifically converted to uracil (U), which will be further turned into thymine (T) after PCR amplification. As a result, the methylation information of the gene is transferred to sequence information. The features of the gene, such as melting temperature and specific recognition interaction, are altered due to the change of sequence, which leads the differences between these features becoming the key to DNA-methylation analysis (Fig. 1). 2.1.1. Sequence-based analysis The straightforward idea for distinguishing 5-mC from other bases is by gene sequencing. In 1992, Frommer proposed the bisulfitesequencing method to determine the 5-mC from individual strands [28]. DNA was first treated by sodium bisulfite, and amplified with PCR. By gene sequencing the resultant product, the status of 5-mC was obtained. This technique is suitable for multiplex DNAmethylation determination, while the needs for massive cloning and sequencing processes make sample preparation tedious and take a long time. In 1996, Herman developed an advanced sequencing-based technique, named methylation-specific PCR (MS-PCR) [30]. Different from the previous bisulfite-sequencing technique, two specific promoters were pre-designed according to the methylated and unmethylated sequences. After treatment by sodium bisulfite, the target sequence was amplified by PCR with two specific promoters. If the target sequence was methylated, the amplified 5-mC was contained in the PCR products. This technique avoids a complicated sequencing process. However, the sequence and the methylation loci need to be known in advance due to the need to pre-design the primer, which means that the technique can only perform a qualitative determination. In order to conquer the limitations of MS-PCR, a technique named methylation-sensitive single-nucleotide primer extension (MsSnuPE) was designed by Gonzalgo in 1997 [31]. After bisulfite treatment, the DNA was amplified by PCR and separated by electrophoresis. The resultant products were further used as the template for primer extension. The 3′-end of the extensional primer was designed before methylation loci. After polymerization with isotopes labeled dCTP and dTTP by Taq, the methylated template led to the tag of dCTP being at the end of primer, while the unmethylated template caused the dTTP to join to the primer. By electrophoretic separation and radiation analysis of the terminal extended products, the ratio C/T was easily obtained, and gave the relative proportions of methylated and unmethylated target sequences. The technique is not only suitable for identification of the methylation status of each gene site, but also capable of determination of the L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 methylation level. However, the tedious nature of primer design and radioactive contamination inevitably remain as limitations. With intensive study of sequencing techniques, next-generation sequencing-based techniques were developed and applied as powerful analysis methods. In 2005, Alexander proposed a reduced representation bisulfite-sequencing (RRBS) technique [55], which utilized the restriction enzyme of Msp I to digest the genome to enrich the CpG sites, and further performed the sequencing to obtain the methylation information of each single base. In 2010, the RRBS technique was further developed and applied to the analysis of clinical samples, including mouse embryonic stem cells and colon tumors. [29]. After optimizing the protocol by minimizing input DNA channel, adjusting size-selection of DNA fragments, and maximizing unmethylated DNA channel, a pipeline was formed and could analyze the methylation bioinformatics. This pipeline is able to identify the imperceptible changes of methylated gene according to putative gene-regulatory potential, and further performs a statistical test relating to differential DNA methylation. Compared with other sequencing approaches, this technique can screen more samples with the ability to detect new epigenetic alterations, while the cost advantage is obvious. 2.1.2. Melting temperature-based analysis Bisulfite sequencing provides a solid support for wide mapping of the genome, but, regardless of bisulfite PCR sequencing, reduced representation bisulfite sequencing or paired-end sequencing, the multiple operation and the less reliable results caused by complicated bases and incomplete bisulfite conversion remain arduous challenges [56,57]. The idea of sequencing-free determination therefore needs consideration, and the analysis for the unique melting temperature of 5-mC sequence is typical. In 1999, Aggerhoim developed a methylation-specific denaturing gradient gel electrophoresis (MS-DGGE) method for determining the level of 5-mC [32]. Bisulfite-treated DNA sequences were treated with DGGE, in which the denaturant solubility relating to the melting temperature was increased from top to bottom. DNA strands changed to be dendroid and stopped moving at different areas of the gel due to the unique melting temperature of the methylated and unmethylated DNA strands. Depending on the result of the separation, the 5-mC level was measured. The technique is economical and can provide comprehensive analysis of DNA methylation. However, the separation efficiency needs to be improved. Although the separation capability of MS-DGGE can be enhanced by high-performance CE (HPCE) [33], the influence of the complicated bases to the targets remains. In 2001, methylation-specific melting-curve analysis (MSMCA) was designed for the determination of 5-mC status [34]. After bisulfite treatment, the DNA strands were labeled with a fluorescence dye. Depending on the measurement of the fluorescence intensity during melting, the melting curves of DNA strands were achieved, and their corresponding melting temperature were detected by Lightcycle processing. Because the melting temperature is in positive proportion to the CG content in DNA sequence, the melting temperature of the unmethylated DNA strand is lower than that of the methylated DNA strand due to the conversion of CG to UG during bisulfite treatment. Therefore, the methylated and unmethylated DNA strands were discriminated. However, using this technique, it is difficult to detect the methylation status of each single base precisely. The limitation was overcome by the enhanced approach of high-resolution melting (HRM) analysis, which was proposed by Carlos to fulfill direct detection of 5-mC in 2010 [35]. Different from MS-MCA, HRM utilized a saturable fluorescent dye to label the DNA sample. An obvious change of fluorescence signal was obtained during the melting due to the occupation of each target base site by the dyes. With high 117 resolution, the methylation status of each single base was precisely distinguished. 2.1.3. Interaction-based analysis Besides melting-temperature analysis, some specific interactions can be considered as another way for economical, efficient recognition of target sequence. Restriction enzymes and oligonucleotide (oligo) probes are widely used in the interaction, which becomes the core of the approach. In 1997, combined bisulfite-restriction analysis (COBRA) was first proposed by Xiong and Peter for determination of the status of 5-mC [36]. After bisulfite treatment and PCR amplification, the DNA sample was added with the restriction enzyme of BstU I, which recognized and digested the methylated sequence of 5′-CGCG-3′. The resultant products were analyzed by electrophore to determine the 5-mC status. The technique can easily provide accurate results, but the application range is restricted due to the sequence-dependence of the restriction enzyme. At the beginning of the twenty-first century, technologies of enzymatic digestion and oligo-probe hybridization were joined together for 5-mC analysis. The typical technique is Methylight [39]. A specific oligo probe, Tagman, was designed and labeled with fluorophore and quencher on its 5′ and 3′-ends, respectively. After bisulfite treatment, DNA sample was incubated with the probe and analyzed by real-time PCR. The duplex strands were cut by excision enzyme at 5-mC, and the fluorophore at the 5′-end was released. From the fluorescence signal produced, the level of 5-mC was quantified. In order to improve the throughput of analysis further, an enhanced technique, termed methylation-specific oligo (MSO) micro-array, was constructed by using multiple oligo probes for methylated and unmethylated DNA [37]. However, the applications of excision enzyme and real-time PCR led to an uneconomical, difficult procedure. In 2013, our group proposed a PCR-free method, termed electrochemical methylation-specific ligation-detection reaction (EmsLDR), to quantify multiplex gene-specific DNA methylation [38]. Two pairs of oligo probes were designed for two methylation loci. Reporting probes were labeled with electrochemical quantum dots (QDs) of PbS and CdS, respectively, and capture probes were immobilized on magnetic beads as the isolation vehicle. After bisulfite treatment, the target gene was selectively hybridized on the isolation vehicle with the QD-labeled reporting probes. Under catalysis of E. coli DNA ligase, the reporting probes were specifically interlinked with capture probes at methylated loci. From the types and the amount of linked QDs on the isolation vehicle, the pattern and the levels of the two gene-specific DNA-methylation loci were simultaneously evaluated. The main advantage of this technique is avoiding the PCR process and restriction-enzyme reaction, but the preparation of multiple probes and the labeling procedure are complex. Besides oligo probes, some proteins with bioaffinity to methylation loci were also utilized to analyze 5-mC status, such as methylation-sensitive dot-blot assay (MS-DBA) [40]. After bisulfite treatment and PCR amplification, the DNA sample was incubated with DIG-labeled methylation-sensitive dinucleotide probe and then with luciferin-labeled DIG antibody. From the signal of luciferin, the methylation status of the target was determined. The technique has the capacity for multiplex 5-mC analysis, while the difficult bisulfite treatment and labeling procedure remain in the operational procedure. 2.2. Techniques based on biological recognition Although bisulfite treatment has been widely utilized to distinguish 5-mC from other C, it has issues of incomplete conversion, false-positive results, difficult operation, and being time consuming. 118 L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 Fig. 2. The main biological recognition approaches for 5-mC and the determination ways for the recognized targets. In comparison, biological identification approaches, such as enzymatic digestion or bioaffinity reaction, can rapidly recognize methylation loci with high specificity under mild reaction conditions, so the 5-mC analysis methods based on biological recognition have become a new focus of attention (Fig. 2). 2.2.1. Enzymatic digestion Since the beginning of the twenty-first century, techniques associated with enzymes have been widely applied to studies of DNA methylation. The typical method is restriction-landmark genomic scanning (RLGS) [41]. DNA sample was digested by the Not I restriction enzyme, and resulted in containing the methylated loci. The sequences were then labeled with 32P-dCTP and 32P-dGTP and digested by methylation-insensitivity restriction enzyme (EcoR V), and, after preliminary separation by performing one-dimensional electrophoresis, the product was further treated with another highfrequency methylation-insensitivity restriction enzyme (Hinf I) and subjected to two-dimensional electrophoresis. After two rounds of screening, the methylation status of multiple CpG sites was investigated. However, operation of the technique is complicated, and the result is uncertain. In 2004, an advanced enzyme-digestion technique, named methylation-sensitive restriction endonuclease-PCR/Southern (MSRE-PCR/Southern), was developed [43]. DNA samples were treated with Hpa II and Msp I restriction enzymes. Both Hpa II and Msp I enzymes can specifically recognize the 5′-CCGG-3′ sequence. Hpa II and Msp I cannot digest the unmethylated C in 5′-mCCGG-3′, while Msp I can cleave the methylated C in 5′-CmCGG-3′. DNA samples were digested with Hpa II and Msp I enzymes, and analyzed by PCR or Southern blot. The status of DNA methylation at multiple methylation loci was obtained. The technique is simple and economical, but it is not suitable for complex gene samples. In 2007, methylation-sensitive restriction endonuclease was utilized to monitor the activity of MTase on-line and evaluate the methylation status [45]. A molecular beacon labeled with a pair of fluorophore and quencher was used as oligo probe. The probe initially showed a low fluorescence signal in its hairpin form. Under the catalysis of Dam MTase, 5-mC fragments were generated in the probes. The addition of Dpn I endonuclease then specifically cleaved the strand at the methylated site, resulting in an increase in the fluorophore signal due to the separation of fluorophore and quencher. The activity of MTase and the DNA-methylation status were therefore monitored from the obvious fluorescence signal. Nevertheless, the procedure and the cost of fluorescent labeling are drawbacks of this technique. In 2012, a label-free, PCR-free electrochemical method was proposed by our group for gene-specific methylation analysis [42]. Oligo probes were covalently attached on a 3-mercaptopropionic acid selfassembled monolayer-modified gold electrode. The amount of the oligo probe was shown by the peak current (I1) of the electrochemical indicator of methylene blue (MB) before hybridization. After the hybridization of sample strands on the electrode with probes, the peak current of MB reduced to I2 due to wrapping of guanine in the hybridized DNA strands. Under the catalysis of Hpa II endonuclease, unmethylated DNA duplex strands were cleaved at the genespecific methylation locus, resulting in a decrease in the peak current to I3. Thus, the degree of 5-mC was evaluated according to the equation: Methylation Degree = (1 − ( I2 − I3 ) ( I1 − I2 )) × 100% The technique showed satisfactory selectivity and sensitivity with an easy operational procedure. However, the limitation for multipletarget determination remained. In 2013, cationic conjugated polymer-based FRET (CCP-FRET) was designed for multiple DNA determination [44]. DNA samples were digested by methylation-sensitive restriction endonuclease (Hpa II) and then subjected to a two-round PCR with fluorescein-labeled dNTPs (Fl-dNTP) and dNTP/Fl-dNTP, respectively. After cleavage of the impurities by shrimp alkaline phosphate (SAP), CCP was added. The fluorescence signal changed because the fluorescence resonance energy transfers from CCP to the fluorescein tag, indicating L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 119 Fig. 3. Two types of bisulfite-free and enzyme-free analysis approaches. One is measuring the produced signals of the oxidation interaction, and the other is measuring the target fragments cleaved by performing the chemical interaction. the level of 5-mC. This technique was applied in cancer detection with the sensitivity threshold of 85.7%, but it needs 20 h to complete the determination. 2.2.2. Bioaffinity reaction Some biomolecules, such as MBD, anti-5-methylcytosine IgG1 antibody, zinc finger (ZF) protein, show inherent capability of methylation-loci specificity and can be directly used for DNAmethylation analysis [46–49,58]. In 2004, Shiraishi proposed an MBDbased method for screening and identifying 5-mC in the genome [46]. The exposed polypeptide functional area of MBD can strongly combine with 5-mC fragments, and the combination ability is in positive proportion to the level of the 5-mC. In combination with column chromatography, the 5-mC was therefore directly separated from other strands. However, the non-specific binding of co-existing DNA strands may influence the accuracy of analysis. In 2006, an enhanced technique was proposed by combining methylated-DNA precipitation with methylation-sensitive restriction enzyme (COMPARE-MS). DNA sample was digested with restriction enzymes, and the 5-mC fragments were isolated by the MBD column and amplified by PCR amplification [48]. The technique took advantage of the sensitivity and the specificity of MBD, and effectively avoided the false-positive result that commonly exists in MBD-based methods. However, the sequence dependence of the restriction endonuclease limits the method in the use of wide range of DNA sequences. Besides MBD, anti-5-methylcytosine IgG1 antibody was utilized for the construction of a CE immunoassay (CEIA) in 2009 [49]. The 5-mC fragments were recognized by anti-5-methylcytosine IgG1 antibody, and then combined with the antigen labeled by a monovalent fluorescein (i.e., Fc-specific anti-IgG1 Fab fragment). The immune complex of the 5-mC formed was then separated and determined by CE and on-line laser-induced fluorescence polarization, respectively. The LOD of 5-mC in this economical, handy technique was 0.3 nM. The method can avoid tedious bisulfite pretreatment, enzyme digestion, and PCR-amplification processes of DNA-methylation determination, and simplify the analytical operation. ZF protein, as another popular DNA-binding protein in mammals [59], was applied to methylation analysis in 2012 [47]. DNA strands containing the target region were first isolated from the sample by sonication. The methylated strands were then captured by MBD and amplified by PCR. After that, luciferase-fused ZF protein was used to recognize and to bind to the methylation locus. From the determination of luciferin, 5-mC was sensitively quantified. The technique had good performance with high accuracy, sensitivity, and potential for automation. 2.3. Bisulfite-free and enzyme-free techniques Although bisulfite-conversion and biological methods show high specificity for recognition of DNA-methylation loci, the issues of reaction efficiency, analytical cost and operational complexity remain of concern in 5-mC analysis. A bisulfite-free, enzyme-free method for DNA methylation would conquer these limitations and possess numerous benefits, such as speed, convenience and low cost, which would be helpful for current techniques (Fig. 3). 2.3.1. Direct-oxidation-based analysis The C5-C6 double bonds of thymine and 5-mC are oxidized by osmium tetroxide [50,51,60,61], so there is a good potential way to utilize the direct electrochemical oxidation of pyrimidine for the 120 L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 analysis of DNA methylation. In 2010, an electrochemical method was proposed for global DNA-methylation analysis [50]. A choline chloride monolayer supported multiwalled carbon nanotubes (MWCNTs) film-modified glassy-carbon electrode (MWCNTs/Ch/ GCE) was fabricated. MWCNTs provide remarkable electrocatalytic activities for DNA bases. All purine and pyrimidine bases of guanine, thymine, adenine, C and 5-mC were identified by their unique oxidation signals. In the following years, an enhancement technique was designed to improve the determination capacity for mixed bases by using over-oxidized polypyrrole directed MWCNTs/GCE (PPyox/ MWCNTs/GCE) [51]. The technique possesses preeminent specificity and accuracy, and can be applied for the rapid determination of mixed bases without enzyme, probe or bisulfite treatment. 2.3.2. Chemical-oxidation cleavage-based analysis Recently, several new chemical methods based on chemicaloxidation cleavage were proposed for discrimination of 5-mC. With the inspiration of the distinctive capability of OsO4 for 5-mC from C, Yamata et al. developed a method employing 2-methyl-1,4naphthoquinone-chromophore to identify 5-mC through photosensitized oxidation [52]. Since then, an advanced method using NaIO4/LiBr was reported [54]. The C5-C6 double bond of 5-mC in DNA was selectively oxidized by NaIO4/LiBr, and was subsequently cut by hot piperidine treatment. The chemically-cleaved DNAs were analyzed by denaturing polyacrylamide gel electrophoresis (PAGE), and the DNA-methylation status was easily obtained. The chemical-cleavage method shows high efficiency for methylation-loci recognition, but the lack of sequence selectivity and the unsatisfactory sensitivity hinder its application in genespecific methylation analysis. With respect to these issues, we recently developed a technique termed chemical-oxidation cleavage triggered exponential amplification reaction (COEXPAR). Target DNA was first treated with NaIO4/LiBr solution. The C5-C6 double bond of 5-mC was selectively epoxidized and brominated to be susceptible to cleavage. The following hot piperidine treatment cleaved the methylated target DNA at 5-mC to produce a short primer for the initiation of exponential amplification reaction (EXPAR), resulting in an amplified fluorescence signal related to the quantity of 5-mC. This technique showed not only good sequence selectivity, but also high amplification efficiency and rapid amplification kinetics. The COEXPAR method successfully analyzed gene-specific methylation in real time, and was ultrasensitive with an LOD down to 411 aM [53]. 3. Conclusions and perspectives With the advances of HEP, technologies for DNA-methylation analysis are continually progressing, and remain key in mapping the mutable sites of human DNA methylation and systematically studying DNA methylation. The current methods for DNA-methylation analysis can fulfill the determination of 5-mC and the relevant oxidation products in an efficient way, while the deficiencies on target recognition remain severe challenges. Meanwhile, the analysis of epigenetic modifications in the demethylation process is becoming a focus of attention, which brings new aspects of research. Current ways of recognizing 5-mC mainly include biological approaches, such as probe hybridization, enzyme digestion and protein combination, and chemical approaches, such as bisulfite treatment and chemical oxidation. Probe-recognition techniques, such as padlock probe [62], linear padlock probe [63] and molecular inversion probe [64], have been widely applied in DNA-methylation analysis due to their admirable specificity and flexible formation. By artful capture of target fragments, these techniques can provide a quick, auto-circling and cost-effective ways of discrimination. However, they lack the capacity for multiple-target recognition. The enzyme-digestion and protein-combination technologies possess high sensitivity and specificity for distinguishing targets [65,66]; while they are similar to probe-based techniques, the complicated targets normally cause uncertain results. In comparison, chemical-recognition methods have the advantage of highthroughput sample discrimination, but skillful operation is needed. Very recently, a novel approach based on nanopore became the focus of attention. Under electric field, the 5-mC base was forced through a membrane containing a synthetic nanopore, which allowed only one molecule to cross at a time. From the change of voltage threshold, the amount of the pervasive 5-mC was determined [67]. The nanopore-based technique was further developed in the following years. For example, an oligonucleotide modified α-hemolysin (αHL) protein nanopore was equipped within a cyclodextrin adapter. This synthetic complex possesses three recognition points with the ability to identify individual unmodified nucleobases [68]. Furthermore, combined with the enzymes of phi29 DNAP and M2MspA, the analytical performance of the synthetic nanopore device was enhanced to distinguish the variants of 5-mC, such as 5-hmC, 5-foC and 5-caC, and the accuracy range for the variants was 91.6–98.3% [69]. The nanopore technology provides unique inspiration in the ways of recognizing methylated genes. Recent reports indicated that active DNA demethylation may be achieved through multistep oxidation of 5-mC with the generation of intermediates of 5-hmC, 5-foC, and 5-caC. This novel means of identification indicates that DNA modifications possess potential regulatory roles [70]. Different from 5-mC, 5-hmC has an abundance within the genome 10–100-fold lower than that of 5-mC, and the abundances of 5-foC and 5-caC are about 40–1000-fold higher than that of 5-hmC [70–72]. These C modifications are a hot spot, and the analytical methods have been developed significantly, and mainly involve the application of LC, CE, bioaffinity or chemical derivatization, such as recombinant β-glucosyltransferase analysis [73], selective chemical labeling [74], combined glycosylation restriction analysis [75], and TAB-array [76]. Besides modification analysis, the investigation of enzymology is becoming a new focus of research. Some 10–11 translocation enzymes (TET1-3) are well-known oxidases for the conversion from 5-mC to 5-hmC, 5-foC or 5-caC [77,78], which is a potential starting point for the analysis of methylated DNA derivatives. Acknowledgement This work was supported by the National Natural Science Foundation of China (21175158, 21375154, 21422510, and 81171666), the Natural Science Foundation of Guangdong Province (S2013010012135), and the Ph.D. Programs Foundation of the Ministry of Education of the People’s Republic of China (20110171110014). References [1] C. Dahl, P. Guldberg, DNA methylation analysis techniques, Biogerontology 4 (2003) 233–250. [2] K.L. Tucker, Methylated cytosine and the brain: a new base for neuroscience, Neuron 30 (2001) 649–652. [3] M. Ehrlich, M.A. Gama Sosa, L.H. Huang, R.M. Midgett, K.C. Kuo, R.A. McCune, et al., Amount and distribution of 5-methylcytosine in human DNA from different types of tissues or cells, Nucleic Acids Res. 10 (1982) 2709–2721. [4] S.E. Cottrell, Molecular diagnostic applications of DNA methylation technology, Clin. Biochem. 37 (2004) 595–604. [5] J. Gertz, K.E. Varley, T.E. Reddy, K.M. Bowling, F. Pauli, S.L. Parker, et al., Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation, PLoS Genet. 7 (2011) E1002228. [6] P.A. Jones, P.W. Laird, Cancer epigenetics comes of age, Nat. Genet. 21 (1999) 163–167. [7] J.M. Trasler, Gamete imprinting: setting epigenetic patterns for the next generation, Reprod. Fertil. Dev. 18 (2006) 63–69. L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 [8] S. Friso, S.W. Choi, J. Selhub, G.G. Dolnikowski, A method to assess genomic DNA methylation using high-performance liquid chromatography/electrospray ionization mass spectrometry, Anal. Chem. 74 (2002) 4526–4531. [9] C.W. Hu, H. Le, J.L. Chen, Y.J. Li, M.R. Chao, Optimization of global DNA methylation measurement by LC-MS/MS and its application in lung cancer patients, Anal. Bioanal. Chem. 405 (2013) 8859–8869. [10] Z.J. Zhang, C.Q. Chen, H. Manev, Enzymatic regional methylation assay for determination of CpG methylation density, Anal. Chem. 76 (2004) 6829–6832. [11] J.R. Porter, C.I. Stains, I. Ghosh, D.J. Segal, Split β-lactamase sensor for the sequence-specific detection of DNA methylation, Anal. Chem. 79 (2007) 6702–6708. [12] A.O. Nygren, N. Ameziane, H.M. Duarte, Methylation specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences, Nucleic Acids Res. 33 (2005) E128. [13] A. Dobrovic, T. Bianco, L.W. Tan, T. Sanders, D. Hussey, Screening for and analysis of methylation differences using methylation-sensitive single-strand conformation analysis, Methods 27 (2002) 134–138. [14] J. Frigola, M. Ribas, R.A. Risques, M.A. Peinado, Methylome profiling of cancer cells by amplification of inter-methylated sites (AIMS), Nucleic Acids Res. 30 (2002) E28. [15] T.H. Huang, D.E. Laux, B.C. Hamlin, P. Tran, H. Tran, D.B. Lubahn, Identification of DNA methylation markers for human breast carcinomas using the methylation-sensitive restriction fingerprinting technique, Cancer Res. 57 (1997) 1030. [16] B.J. Zhao, D.G. Sun, M. Zhang, S.N. Tan, X. Ma, Identification of aberrant promoter methylation of EDNRB gene in esophageal squamous cell carcinoma, Dis. Esophagus 22 (2009) 55–61. [17] T.T. Gu, Z.M. Zhang, P.S. Zheng, Review and evaluation of methodology of research on DNA methylation, Chin. J. Mater. Child Health Res. 17 (2006) 555–560. [18] V.J. Bailey, B.P. Keeley, C.R. Razavi, E. Griffiths, H.E. Carraway, T.H. Wang, DNA methylation detection using MS-qFRET, a quantum dot-based nanoassay, Methods 52 (2010) 237–241. [19] C. McLean, P. Gluckman, A. Sheppard, Phenotypic diversity and epigenomic variation–The utility of mass spectrometric analysis of DNA methylation, J. Proteomics 75 (2012) 3400–3409. [20] K.A. How, H.M. Nielsen, J. Tost, DNA methylation based biomarkers: practical considerations and applications, Biochimie 94 (2012) 2314–2337. [21] A. Paliwal, T. Vaissière, Z. Herceg, Quantitative detection of DNA methylation states in minute amounts of DNA from body fluids, Methods 52 (2010) 242–247. [22] M. Jordà, M.A. Peinado, Methods for DNA methylation analysis and applications in colon cancer, Mutat. Res. 693 (2010) 84–93. [23] B.F. Yuan, Y.Q. Feng, Recent advances in the analysis of 5-methylcytosine and its oxidation products, Trends Anal. Chem. 54 (2014) 24–35. [24] K.C. Kuo, R.A. McCune, C. Gehrke, R. Midgett, M. Ehrlich, Quantitative reversedphase high performance liquid chromatographic determination of major and modified deoxyribonucleosides in DNA, Nucleic Acids Res. 8 (1980) 4763–4776. [25] D.J. Deng, G.R. Deng, Y.Y. Lv, J. Zhou, H.J. Xin, Methylated cytosine detection of CpG island by denatured high performance liquid chromatography, Natl. Med. J. China 80 (2001) 158–161. [26] L. Zhang, L. Zhang, K. Zhou, X. Ye, J. Zhang, A. Xie, et al., Simultaneous determination of global DNA methylation and hydroxymethylation levels by hydrophilic interaction liquid chromatography–tandem mass spectrometry, J. Biomol. Screen. 17 (2012) 877–884. [27] D. Huang, Q. Yang, S. Jin, P. Zhou, Q. Deng, Determination of global DNA methylation level by capillary electrophoresis using octyl-modified quaternized cellulose as an electrolyte additive, Anal. Bioanal. Chem. 406 (2014) 2771–2777. [28] M. Frommer, L.E. McDonald, D.S. Millar, C.M. Collis, F. Watt, G.W. Grigg, et al., A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands, Proc. Natl. Acad. Sci. U.S.A. 89 (1992) 1827–1831. [29] H. Gu, C. Bock, T.S. Mikkelsen, N. Jager, Z.D. Smith, E. Tomazou, et al., Genomescale DNA methylation mapping of clinical samples at single-nucleotide resolution, Nat. Methods 7 (2010) 133–136. [30] J.G. Herman, J.R. Graff, S. Myohanen, B.D. Nelkin, S.B. Baylin, Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands, Proc. Natl. Acad. Sci. U.S.A. 93 (1996) 9821–9826. [31] M.L. Gonzalgo, P.A. Jones, Rapid quantitation of methylation differences at specific sites using methylation-sensitive single nucleotide primer extension (Ms-SNuPE), Nucleic Acids Res. 25 (1997) 2529–2531. [32] A. Aggerholm, P. Guldberg, M. Hokland, P. Hokland, Extensive intra and inter individual heterogeneity of pl5INK4B methylation in acute myeloid leukemia, Cancer Res. 59 (1999) 436–441. [33] M.F. Fraga, E. Uriol, L.D. Borja, M. Berdasco, M. Esteller, M.J. Cañal, et al., High-performance capillary electrophoretic method for the quantification of 5-methyl 2-deoxycytidineingenomic DNA: application to plant, animal and human carcinoma tissues, Electrophoresis 23 (2002) 1677–1681. [34] J. Worm, A. Aggerholm, P. Guldberg, In-tube DNA methylation profiling by fluorescence melting curve analysis, Clin. Chem. 47 (2001) 1183–1189. [35] C.M. Rodríguez-Lopez, A.B. Guzmán, A.J. Lloyd, M.J. Wilkinson, Direct detection and quantification of methylation in nucleic acid sequences using highresolution melting analysis, Anal. Chem. 82 (2010) 9100–9108. [36] Z. Xiong, P.W. Laird, COBRA: a sensitive and quantitative DNA methylation assay, Nucleic Acids Res. 25 (1997) 2532–2534. [37] P.S. Yan, C.M. Chen, H. Shi, Dissecting comples epigenetic alterations in breast carcinoma using CpG island microarrays, Cancer Res. 61 (2001) 8375–8380. 121 [38] Z. Dai, T. Cai, W.Y. Zhu, X.Y. Gao, X.Y. Zou, Simultaneous profiling of multiple gene-methylation loci by electrochemical methylation-specific ligase detection reaction, Chem. Commun. 49 (2013) 1939–1941. [39] C.A. Eads, K.D. Danenberg, K. Kawakami, L.B. Saltz, C. Blake, D. Shibata, et al., MethyLight: a high-throughput assay to measure DNA methylation, Nucleic Acids Res. 28 (2000) E32. [40] G. Clement, J. Benhattar, A methylation sensitive dot blot assay (MS-DBA) for the quantitative analysis of DNA methylation in clinical samples, J. Clin. Pathol. 58 (2005) 155–158. [41] J.F. Costello, J.F. Costello, C. Plass, W.K. Cavenee, Restriction landmark genome scanning, Methods Mol. Biol. 200 (2002) 53–70. [42] Z. Dai, X. Hu, H. Wu, X.Y. Zou, A label-free electrochemical assay for quantification of gene-specific methylation in a nucleic acid sequence, Chem. Commun. 48 (2012) 1769–1771. [43] Q.X. Huang, F. Jin, H.F. Huang, Research on the method of DNA methylation, Section Genet Foreign Med. Sci. 27 (2004) 354–358. [44] J. Zhang, J. Song, C. Nie, L. Liu, F. Lv, S. Wang, et al., Associated analysis of DNA methylation for cancer detection using CCP-based FRET technique, Anal. Chem. 86 (2014) 346–350. [45] J. Li, H.F. Yan, K.M. Wang, W.H. Tan, X.W. Zhou, Hairpin fluorescence DNA probe for real-time monitoring of DNA methylation, Anal. Chem. 79 (2007) 1050–1056. [46] M. Shiraishi, A. Sekiguchi, A.J. Oates, M.J. Terry, Y. Miyamoto, T. Sekiya, Methyl-CpG binding domain column chromatography as a tool for the analysis of genomic DNA methylation, Anal. Biochem. 329 (2004) 1–10. [47] D. Hiraoka, W. Yoshida, K. Abe, K. Ikebukuro, H. Wakeda, K. Hata, Development of a method to measure DNA methylation levels by using methyl CpG-binding protein and luciferase-fused zinc finger protein, Anal. Chem. 84 (2012) 8259– 8264. [48] S. Yegnasubramanian, X.H. Lin, M.C. Haffner, A.M. DeMarzo, W.G. Nelson, Combination of methylated-DNA precipitation and methylation-sensitive restriction enzymes (COMPARE-MS) for the rapid, sensitive and quantitative detection of DNA methylation, Nucleic Acids Res. 34 (2006) E19. [49] X.L. Wang, Y.L. Song, M.Y. Song, Z.X. Wang, T. Li, H.L. Wang, Fluorescence polarization combined capillary electrophoresis immunoassay for the sensitive detection of genomic DNA methylation, Anal. Chem. 81 (2009) 7885– 7891. [50] P. Wang, Z.B. Mai, Z. Dai, X.Y. Zou, Investigation of DNA methylation by direct electrocatalytic oxidation, Chem. Commun. 46 (2010) 7781–7783. [51] P. Wang, H. Chen, J. Tian, Z. Dai, X. Zou, Electrochemical evaluation of DNA methylation level based on the stoichiometric relationship between purine and pyrimidine bases, Biosens. Bioelectron. 45 (2013) 34–39. [52] H. Yamada, K. Tanabe, T. Ito, S. Nishimoto, The pH effect on the naphthoquinone-photosensitized oxidation of 5-methylcytosine, Chem. Eur. J. 14 (2008) 10453–10461. [53] Y.Z. Xu, C. Niu, X.F. Xiao, W.Y. Zhu, Z. Dai, X.Y. Zou, Chemical-oxidation cleavage riggered isothermal exponential amplification reaction for attomole genespecific methylation analysis, Anal. Chem. 87 (5) (2015) 2845–2851, doi:10.1021/ac5044785. [54] S. Bareyt, T. Carell, Selective detection of 5-methylcytosine sites in DNA, Angew. Chem. Int. Ed. 47 (2008) 181–184. [55] A. Meissner, A. Gnirke, G.W. Bell, B. Ramsahoye, E.S. Lander, R. Jaenisch, Reduced representation bisulfite sequencingfor comparative high-resolution DNAmethylation analysis, Nucleic Acids Res. 33 (18) (2005) 5868–5877. [56] T.J. Hardcastle, High-throughput sequencing of cytosine methylation in plant DNA, Plant Methods 9 (2013) 16. [57] S. Beck, V.K. Rakyan, The methylome: approaches for global DNA methylation profiling, Trends Genet. 24 (2008) 231–237. [58] B. Hendrich, H. McQueen, S. Cross, A. Bird, C. Abbott, D. Chambers, Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes, Mamm. Genome 10 (1999) 906–912. [59] C.O. Pabo, E. Peisach, R.A. Grant, Design and selection of novel Cys2His2 zinc finger proteins, Annu. Rev. Biochem. 70 (2001) 313–340. [60] A. Okamoto, K. Tainaka, T. Kamei, Sequence-selective osmium oxidation of DNA: efficient distinction between 5-methylcytosine and cytosine, Org. Biomol. Chem. 4 (9) (2006) 1638–1640. [61] K. Tanaka, K. Tainaka, T. Kamei, A. Okamoto, An osmium-DNA interstrand complex: application to facile DNA methylation analysis, J. Am. Chem. Soc. 129 (46) (2007) 14511–14517. [62] D. Diep, N. Plongthongkum, A. Gore, H.L. Fung, R. Shoemaker, K. Zhang, Library-free methylation sequencing with bisulfite padlock probes, Nat. Methods 9 (3) (2012) 270–272, doi:10.1038/nmeth.1871. [63] A. Cao, C.Y. Zhang, Sensitive and label-free DNA methylation detection by ligation-mediated hyperbranched rolling circle amplification, Anal. Chem. 84 (2012) 6199–6205. [64] R. Palanisamy, A.R. Connolly, M. Trau, Accurate detection of methylated Cytosine in complex methylation landscapes, Anal. Chem. 85 (2013) 6575– 6579. [65] J. Wang, Z. Zhu, H. Ma, Label-free real-time detection of DNA methylation based on quartz crystal microbalance measurement, Anal. Chem. 85 (2013) 2096– 2101. [66] T.A. Rauch, G.P. Pfeifer, DNA methylation profiling using the methylated-CpG island recovery assay (MIRA), Methods 52 (2010) 213–217. [67] U. Mirsaidov, W. Timp, X. Zou, V. Dimitrov, K. Schulten, A.P. Feinberg, et al., Nanoelectromechanics of methylated DNA in a synthetic nanopore, Biophys. J. 96 (2009) L32–L34. 122 L. Zhang et al./Trends in Analytical Chemistry 72 (2015) 114–122 [68] E.V. Wallace, D. Stoddart, A.J. Heron, E. Mikhailova, G. Maglia, T.J. Donohoe, et al., Identification of epigenetic DNA modifications with a protein nanopore, Chem. Commun. (Camb.) 46 (2010) 8195–8197. [69] Z.L. Wescoe, J. Schreiber, M. Akeson, Nanopores discriminate among five C5-cytosine variants in DNA, J. Am. Chem. Soc. 136 (2014) 16582–16587. [70] C.X. Song, C. Yi, C. He, Mapping recently identified nucleotide variants in the genome and transcriptome, Nat. Biotechnol. 30 (2012) 1107–1116. [71] S. Ito, L. Shen, Q. Dai, S.C. Wu, L.B. Collins, J.A. Swenberg, et al., Tet proteins can convert 5-methylcytosine to 5-formylcytosine and 5-carboxylcytosine, Science 333 (2011) 1300–1303. [72] R. Yin, S.Q. Mao, B. Zhao, Z. Chong, Y. Yang, C. Zhao, et al., Ascorbic acid enhances tet-mediated 5-methylcytosine oxidation and promotes DNA demethylation in mammals, J. Am. Chem. Soc. 135 (2013) 10396–10403. [73] J. Terragni, J. Bitinaite, Y. Zheng, S. Pradhan, Biochemical characterization of recombinant β-glucosyltransferase and analysis of global 5-Hydroxymethylcytosine in unique genomes, Biochemistry 51 (2012) 1009–1019. [74] J. Hu, Y. Chen, X. Xu, F. Wu, X. Xing, Z. Xu, et al., Discrimination between 5-hydroxymethylcytosine and 5-methylcytosine in DNA by selective chemical labeling, Bioorg. Med. Chem. Lett. 24 (2014) 294–297. [75] C.X. Song, M. Yu, Q. Dai, C. He, Detection of 5-hydroxymethylcytosine in a combined glycosylation restriction analysis (CGRA) using restriction enzyme TaqαI, Bioorg. Med. Chem. Lett. 21 (2011) 5075–5077. [76] K.L. Nazor, M.J. Boland, M. Bibikova, B. Klotzle, M. Yu, V.L. Glenn-Pratola, et al., Application of a low cost array-based technique – TAB-Array – for quantifying and mapping both 5mC and 5hmC at single base resolution in human pluripotent stem cells, Genomics 104 (2014) 358–367. [77] L.M. Iyer, M. Tahiliani, A. Rao, L. Aravind, Prediction of novel families of enzymes involved in oxidative and other complex modifications of bases in nucleic acids, Cell Cycle 8 (2009) 1698–1710. [78] C. Loenarz, C.J. Schofield, Oxygenase catalyzed 5-methylcytosine hydroxylation, Chem. Biol. 16 (2009) 580–583. ID 1247795 Title DevelopmentoftechniquesforDNA-methylationanalysis http://fulltext.study/journal/1420 http://FullText.Study Pages 9