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Tiêu đề Semi-nested PCR analysis of unknown tags on serial analysis of gene expression
Tác giả Wang-Jie Xu, Qiao-Li Li, Chen-Jiang Yao, Zhao-Xia Wang, Yang-Xing Zhao, Zhong-Dong Qiao
Người hướng dẫn Z. Qiao, Shanghai Institute of Medical Genetics
Trường học Shanghai Jiao Tong University
Thể loại báo cáo khoa học
Năm xuất bản 2008
Thành phố Shanghai
Định dạng
Số trang 7
Dung lượng 223,25 KB

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Nội dung

It has been frequently observed that a large number of SAGE tags do not match the existing expressed sequences upon analysis of the SAGE data Keywords modified lock-docking oligodT; mRNA

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analysis of gene expression

Wang-Jie Xu1, Qiao-Li Li1, Chen-Jiang Yao1, Zhao-Xia Wang1, Yang-Xing Zhao1and

Zhong-Dong Qiao1,2

1 College of Life Science and Technology, Shanghai Jiao Tong University, Shanghai, China

2 Shanghai Institute of Medical Genetics, Shanghai Jiao Tong University, Shanghai, China

The serial analysis of gene expression (SAGE)

tech-nique allows the construction of a comprehensive

expression profile, in which each mRNA is defined by

a specific 14-mer [1–4] By analyzing a short sequence

tag for a transcript, SAGE significantly decreases the

overall scale of sequencing analysis and makes it

possi-ble to analyze nearly all of the expressed transcripts

from the genome, a capability matched by no other

currently available method [5] Application of the SAGE technique has provided valuable information in various biological systems [6,7] Recently, millions of short cDNA sequences called SAGE tags have been collected from human tissues through the SAGE method [8,9] It has been frequently observed that a large number of SAGE tags do not match the existing expressed sequences upon analysis of the SAGE data

Keywords

modified lock-docking oligo(dT); mRNA;

RACE; serial analysis of gene expression

(SAGE); two-step analysis of unknown

SAGE tags (TSAT-PCR)

Correspondence

Z Qiao, Shanghai Institute of Medical

Genetics, Shanghai Jiao Tong University,

Shanghai, China

Fax: +86 21 54747330

Tel: +86 21 34204925

E-mail: zdqiao@sjtu.edu.cn

(Received 3 August 2008, revised 3

September 2008, accepted 5 September

2008)

doi:10.1111/j.1742-4658.2008.06671.x

Serial analysis of gene expression (SAGE) is a powerful technique for studying gene expression at the genome level However, short SAGE tags limit the further study of related data In this study, in order to identify a gene, we developed a semi-nested PCR-based method called the two-step analysis of unknown SAGE tags (TSAT-PCR) to generate longer 3¢-end cDNA fragments from unknown SAGE tags In the procedure, a modified lock-docking oligo(dT) with two degenerate nucleotide positions at the 3¢-end was used as a reverse primer to synthesize cDNAs Afterwards, the full-length cDNAs were amplified by PCR based on 5¢-RACE and 3¢-RACE The amplified cDNAs were then used for the subsequent two-step PCR of the TSAT-PCR process The first-two-step PCR was carried out at

an appropriately low annealing temperature; a SAGE tag-specific primer was used as the sense primer, and an 18 bp sequence (universal primer I) located at the 5¢-reverse primer end was used as the antisense primer After 15–20 PCR cycles, the 3¢-end cDNA fragments containing the tag could be enriched, and the PCR products could be used as templates for the second-step PCR to obtain the specific products The second-second-step PCR was per-formed with a SAGE tag-specific primer and a 22-bp sequence (universal primer II) upstream of universal primer I at the 5¢-reverse primer with a high annealing temperature With our innovative TSAT-PCR method, we could easily obtain specific PCR products covering SAGE from those tran-scripts, especially low-abundance transcripts It can be used as a method to identify genes expressed in different cell types

Abbreviations

GLGI, generation of longer cDNA fragments from serial analysis of gene expression tags for gene identification; PLF, primary library forward primer; PLR, primary library reverse primer; RAST-PCR, rapid reverse transcription–PCR analysis of unknown serial analysis of gene expression tags; rSAGE, reverse serial analysis of gene expression; SAGE, serial analysis of gene expression; TSAT-PCR, two-step analysis

of unknown SAGE tags; UP-I, universal primer I; UP-II, universal primer II.

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[10,11] It is possible, then, that the unmatched SAGE

tags originating from potentially novel transcripts or

novel genes are unidentified in the human genome

We have constructed a SAGE library on human

spermatozoa in which we obtained more than 2500

unique tags Of these, 54 were considered to be

high-frequency tags, and no homology could be found in

the GenBank database [12] Therefore, those tags

might represent unidentified genes However, there was

a major problem when the SAGE tag sequence was

applied to the process of gene identification Owing to

the short length of SAGE tag sequences, it became

dif-ficult to produce the 3¢-longer cDNA fragments and

even whole cDNA sequences by PCR, which affected

further studies on SAGE data Moreover, the short

tag has hindered the application of SAGE to the vast

majority of eukaryotes, including expressed sequence

tags and genome sequences without sufficient genomic

resources [13]

In order to solve this problem, we have developed

a technique called the two-step analysis of unknown

SAGE tags (TSAT-PCR) to generate the 3¢-longer

cDNA ends The three key points of our method are

as follows: first, it uses a modified lock-docking

oligo(dT) primer, with two degenerate nucleotide

positions at the 3¢-end, as a reverse primer to

syn-thesize the first-strand cDNA; second, the primary

cDNAs were enriched by PCR, and then served as

templates for the subsequent TSAT-PCR experiment;

and third, the semi-nested PCR principle was used

as a reference in designing the two-step PCR method

in order to obtain the 3¢-end cDNA tag-specific

fragments Currently, we have successfully used this

procedure to test and analyze 11 of the 54 unmatched SAGE tags

Results and Discussion

Enrichment of cDNA template Owing to RACE technology, we could now amplify full-length cDNAs to generate enough templates for the subsequent PCR, especially a few low-abundance cDNAs (Fig 1A) In this study, the amplification of cDNAs was carried out as follows: first, owing to two degenerate nucleotide positions at the 3¢-end of the modified oligo(dT) primer in the RT-PCR pro-cess, these nucleotides position the primer at the start

of the poly(A)+ tail, thereby eliminating the 3¢-heter-ogeneity inherent in conventional oligo(dT) priming [14] As the PrimeScript Reverse Transcriptase exhib-ited terminal transferase activity upon reaching the end of an RNA template, it added three to five resi-dues (predominantly dC) to the 3¢-end of the first-strand cDNA The 5¢-cap oligonucleotide contained a terminal stretch of G residues that annealed to the dC-rich cDNA tail and served as an extended tem-plate for reverse transcription In the subsequent PCR process, the reverse transcription product above was used as template Primary library forward primer (PLF) and primary library reverse primer (PLR) paired with the 5¢-end and 3¢-end of all cDNAs, respectively, and after 25 cycles, the entire cDNAs were largely amplified for the next experiment Figure 2 shows the amplified cDNAs As can be seen, the length of the smear is distributed from about

mRNA

mRNA NBAAAAAAA-3′

NBAAAAAAA-3′

NBAAAAAAA Modified oligo (dT)

NVTTTTTTT

NBAAAAAAA NVTTTTTTT NBAAAAAAA

NBAAAAAAA NVTTTTTTT

NBAAAAAAA NVTTTTTTT

16

16

16

16

16

16

16 16

5′

5′

5′-cap oligo

NVTTTTTTT NVTTTTTTT

NBAAAAAAA NVTTTTTTT GGG

CCC

GGG CCC

GGG CCC

GGG

GGG CCC Anneal first strand Primer to mRNA

cDNA first strand synthesis

Modified oligo (dT)

Tag-specific primer

UP-I

The 2 nd PCR The 1 st PCR

UP-II

UP-II

PLF

PLR

GGATCC

GGATCC

GGATCC

cDNAs synthesis

cDNA library

Fig 1 Detailed mechanism of the amplification of the whole cDNAs and the TSAT-PCR technique (A) In this process, double-stranded cDNAs synthesized by modified lock-docking oligo(dT) and 5¢-cap oligonucleotides were used for PCR During the PCR process, PLF and PLR were used as sense primer and antisense primer, respectively, to amplify the cDNAs (B) The procedure involved two PCR reactions The first PCR reaction was performed with a tag-specific primer containing a SAGE tag sequence and an 18 bp primer (UP-I) located at the 5¢-reverse primer end The first PCR product was then used as the template for the second PCR reaction The tag-specific primer and a 22-bp primer (UP-II) located near UP-I located at the 5¢-reverse primer were used as the sense primer and the antisense primer, respectively.

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100 bp to over 2 kb, and is mostly focused on the 0.3–

1 kb range The results demonstrate that

high-abun-dance genes are not very variable in terms of length,

as they mostly concentrate on a narrow span (0.3–

1 kb) Aside from the range, we can see that there are

a few low-abundance genes that are either very long

(50 kb) or short (50 bp) It seems that the smear of the

genes did not become obvious because of their low

abundance or short extension time in the PCR, or

both

TSAT-PCR general strategy

The amplified cDNAs served as primary templates for

TSAT-PCR, as illustrated in Fig 1B The antisense

primers [PLR, universal primer I (UP-I) and universal

primer II (UP-II)] were all designed from the sequence

of the modified oligo(dT) primer The three primers

shared some overlap with each other and their length

was different considering the consistency of their

equivalent sense primers (Fig 3) Both UP-I and

UP-II were used as nested primers in the TSAT-PCR

reactions The TSAT-PCR technique was developed from the principle of nested PCR, and the procedure included a two step-PCR reaction For 15–20 cycles of the first PCR, an appropriately low annealing tempera-ture (about 55C) was used, a SAGE tag-specific primer and UP-I As a result, the 3¢-end cDNA frag-ments containing the tag could be enriched while some nonspecific products were also generated simulta-neously, and then the PCR products could be used

as templates for the second-step PCR to obtain the specific products The second-step PCR was performed with a SAGE tag-specific primer and a nested primer (UP-II) at a high annealing temperature (‡ 60 C) Afterwards, the specific products corresponding to tags could be amplified

Amplification of longer sequences from SAGE tags

To test the TSAT-PCR procedure, we chose five tags corresponding to known genes, as well as 11 different-abundance tags corresponding to unknown genes, all identified in SAGE analysis of human spermatozoa (Table 1) Among the 16 tags, tag 4, A and E were used as representatives of low-frequency genes in order

to help us determine whether or not the process worked on low-frequency tags Upon application of the TSAT-PCR method, we obtained the PCR prod-ucts (Fig 4) of all tags tested using the standard PCR condition (first PCR, 94 C for 30 s, 55 C for 30 s and 72C for 30 s for 15 cycles; second PCR, 94 C for 30 s, 60C for 30 s and 72 C for 30 s for 25 cycles) The PCR products were electrophoresed through a 2.0% agarose gel, and cloned into a plasmid vector for sequencing analysis As compared with the others, tag 1, 2, 3, 4 and A displayed very weak PCR bands in the agarose gel, especially the two low-frequency tags (Fig 4) Aside from this, there were also two clear bands in the PCR product of no 10

We further optimized the PCR annealing tempera-ture, as well as the cycle number, for each of the weak-band tags Moreover, these bands were obviously clearer than the pervious ones (data not shown) We then verified whether or not each PCR product indeed represented a sequence downstream of the most 3¢ NlaIII site in the full-length cDNA by analyzing the

3530 bp

1584 bp

947 bp

564 bp

Fig 2 PCR amplification of the full-length cDNAs The cDNAs

were amplified with PLF and PLR M: kDNA ⁄ HindIII + EcoRI

mar-ker Lane 1: amplified full-length cDNAs Lane 2:

glyceraldehyde-3-phosphate dehydrogenase (GAPDH) GAPDH was used as control.

Fig 3 The sequences and relationships of the primers [modified oligo(dT), PLR, UP-I and UP-II] discussed in this article.

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sequences of the products If the tag sequence was

presented at the predicted location, no NlaIII site

would be present in the sequence of the obtained PCR

product, whereas the PCR product would include the

oligo(dT16) sequence All PCR products were cloned

and sequenced successfully (Table S1) Through

analy-sis of the sequencing result, we identified 16 of 17 PCR

products (Figs 4 and 5) that met the standard

men-tioned above This indicates that the 16 PCR products

represented a sequence downstream of the most 3¢

NlaIII restriction site In contrast, the remaining PCR

product was a large size band of the no 10 product, in

which sequences of UP-II and oligo(dT16) were not

found, although the tag-specific primer was found

only in its sequence This meant that the PCR product

was amplified by PCR using only a single primer (the

tag-specific primer no 10) Sequencing could only determine the single primer-prone product The sequencing results (Table 1) were analyzed using the blast program of the NCBI server (http://www ncbi.nlm.nih.gov/BLAST/) Among the five fragments containing known tags (Table 1), four sequences corre-sponding to the tags A, B, C and E were matched to the 3¢-cDNA of genes predicted by Zhao based on the spermatozoa SAGE tags [12], whereas no D was not matched to the gene (Hs 436980) The reason for this was further investigated, and it was found that the

no D tag could not represent the gene (Hs 436980), because seven NlaIII (CATG) sites were found between the site of the no tag D tag and a poly(dA) among the cDNA of the gene (Hs 436980) The blast results of another 11 sequences in the GenBank

Table 1 Overview of all tags analyzed with the TSAT-PCR technique The sequences from nos 1 and 7 matched a single sequence No 11 matched multiclusters The rest of the sequences did not match any clusters.

PCR product size (bp)

Presence

of NlaIII site

Presence

of oligo(dT) Blast results

BC021246 BC013387 AY211920 BC092442

a

Single-prime PCR product.

500 bp

400 bp

200 bp

100 bp

Fig 4 TSAT-PCR analysis of 16 tags Lanes 1–11 were unknown SAGE tags corresponding to tags 1–11 in Table 1 Lanes a, b, c, d and e were known SAGE tags corresponding to tags A, B, C, D and E in Table 1 TSAT-PCR was performed as described in Results and Discussion.

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database (refseq_rna: reference mRNA sequence and

expressed sequence tags) revealed several cases

(Table 1): match, multimatch, unmatch and mismatch

The corresponding accession numbers of matched and

multimatched sequences are given in Table 1 No 8

was defined as a mismatch, because the blast result

showed that the site of the tag did not exactly match

sequences in the GenBank database, due to nonspecific

amplification The genes corresponding to the matched

sequences (corresponding to tags A and E) are

Hs 431668 (COX6B1, cytochrome c oxidase subunit

Vib polypeptide 1) and Hs 34114 [ATP1A2, ATPase,

Na+⁄ K+-transporting, a2(+) polypeptide], which are

related to energy production for motility of the human

spermatozoa Hs 372658, corresponding to no B, is a

gene coding for spermatogenesis-related protein 7,

which could take part in spermatogenesis The rest of

the genes corresponding to tags C, 1 and 7 are

Hs 435464 (Homo sapiens neuritin 1-like), AK027322

(highly similar to signal recognition particle 68 kDa

protein), and NR_003286 (Homo sapiens 18S

ribo-somal RNA) Currently, as little is known of the

func-tion of mRNAs in human spermatozoa, it was difficult

to estimate whether the rest of the genes were related

to the function of human spermatozoa, or just retained

during spermatogenesis For the unmatched sequences

and multimatched sequences, the 5¢-RACE experiment

should be carried out to obtain its full-length cDNA

sequences and to determine whether the sequences

represent new genes

During the course of our research on the SAGE

data of the human spermatozoa, we became aware that

other methods [rapid reverse transcription–PCR

analy-sis of unknown SAGE tags (RAST-PCR) [15],

genera-tion of longer cDNA fragments from SAGE tags for

gene identification (GLGI) [16] and reverse SAGE

(rSAGE) [17]] hardly generate the 3¢-fragment

sequences of these unmatched tags Although GLGI is

more effective than RAST-PCR [17], the antisense

pri-mer in GLGI is only composed of oligo(dT), so the

rigorous PCR conditions, the Mg2+concentration, the

number of PCR cycles and the annealing temperature would be optimized for each SAGE tag In experi-ments, we often encountered nonspecific amplification

or multiple fragments, and met difficulties in amplify-ing the product of low-frequency tags, due to the short antisense primer The rSAGE method was derived from SAGE, and many steps and reagents are shared

by these two protocols However, step 4 (linker liga-tion) in the rSAGE protocol does not avoid self-ligation of the cDNA, and the self-self-ligation would lead

to smearing in the following PCR amplification In addition, the method requires more initial total RNA and poly(A)+ than SAGE, because of the loss of RNA in each step Thus, the demand for RNA restricts the application of this method during the low total RNA experiment, as each human spermatozoon

is estimated to contain just 0.015 pg of total RNA [18], only 1⁄ 600 of the amount of somatic total RNA

To avoid this problem, we have used semi-nested PCR to improve the specific amplification, and devel-oped the method called TSAT-PCR Using the condi-tions described in that article [17], we compared the two methods with six tags and obtained the results that we expected (Fig 5) The bands obtained with TSAT-PCR are obviously clearer than those obtained within GLGI; moreover, the tags (4, A and E) with low abundance (< 6) were all obtained with TSAT-PCR

In comparison with other methods, ours is able to amplify our target PCR products from low-abundance transcripts Also, the method needs a lower initial amount of mRNA than the with others Furthermore, our method possesses the advantages of being simple, rapid, low in cost, and highly efficient We have dem-onstrated that we could obtain a clear band of PCR products for each case, as well as enough full-length cDNAs as PCR templates for subsequent experiments through the novel PCR amplification method described above

Although the improved version of SAGE can gener-ate tags with lengths of 21 bases [19] and 26 bases [13], which theoretically can be uniquely assigned to a single

500 bp

300 bp

200 bp

100 bp

M E C B A 10 4 E C B A 10 4

TSAT-PCR GLGI

Fig 5 Comparison between GLGI and TSAT-PCR A set of six SAGE tags was chosen for the analysis Among the six tags, three tags (4, A and E) with low abundance (< 6) were examined The same RNA from human spermatozoa and sense primers was used for both methods The conditions used for GLGI followed the procedures described in [16].

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genomic position [20], there still exists a much earlier

SAGE database constructed with the use of the

conventional SAGE technique, which consists of

shorter tags (14 bp) Converting short tags to 3¢-longer

cDNA is a key step and a breakthrough for further

studies on SAGE data Our method would help SAGE

to become a high-throughput technique that could be

widely applied to gene expression

In summary, the study could be applied to further

analyses of SAGE data gathered from humans and

some eukaryotic species Our approach has several

important advantages, such he following: (a) it can

obtain enough full-length cDNA templates for

sub-sequent experiments, such as 5¢-RACE, 3¢-RACE and

northern blotting, among others; (b) it can convert

short SAGE tag sequences into 3¢-complementary

DNAs; (c) it can obtain full-length DNA sequences

containing specific tags from mRNA transcripts,

espe-cially low-abundance mRNA transcripts, through the

combined application of TSAT-PCR and 5¢-RACE;

and (d) it can identify novel genes from SAGE data

and confirm the existence of exons predicted by

bio-informatic tools in genomic sequences

Experimental procedures

Tag sequences

In our SAGE library generated from human spermatozoa,

each tag was homologously screened in the Unigene

data-base (http://www.ncbi.nlm.nih.gov/SAGE/SAGEtag.cgi?tag)

to identify its respective match We chose 16 SAGE tags,

including four tags corresponding to known genes, which

served as a positive control for this experiment, and 11

dif-ferent-abundance tags from the 54 unmatched tags

corre-sponding to unknown genes

RNA samples and cDNA synthesis

Total RNA of purified spermatozoa was extracted using

Trizol RNA isolation reagent (Invitrogen, Carlsbad, CA,

USA), according to the manufacturer’s protocol (http://www

invitrogen.com/content/sfs/manuals/10296010.pdf) The

quantity of extracted RNA was determined by UV

absorp-tion Meanwhile, cDNAs were generated with a modified

RACE method through the PrimeScript Reverse

Transcrip-tase (TaKaRa, Dalian, China), following the manufacturer’s

instructions Briefly, two kinds of primers were added in the

RT-PCR reaction: one was the modified oligo(dT) primer

(5¢-CCAGACACTATGCTCATACGACGCAG-T16-VN-3¢;

N= A, C, G, or T; V = A, G, or C), which was used as a

reverse transcription primer to generate the first-strand

cDNA; and the other was the 5¢-cap oligonucleotide primer

(5¢-AAGCAGTGGTATCAACGCAGAGTACGCGGG-3¢),

which annealed to the dC-rich cDNA tail and served as an extended template for reverse transcription Thus, a set of full-length cDNAs can now serve as a primary library of spermatozoa cDNAs to be used for further studies

Amplification of primary library

The full-length cDNAs in spermatozoa were amplified by PCR with the use of Takara Ex Taq Hot Start Version (TaKaRa), with the primary library sequences serving as the template Briefly, PLF (5¢-AAGCAGTGGTATCAACGCA GAGT-3¢) was used as the sense primer, and was located at the 5¢-end of all cDNAs generated from the 5¢-cap oligonu-cleotide primer Meanwhile, PLR, which used the sequence (5¢-CCAGACACTATGCTCATACGACG-3¢) in the 3¢-ends

of all cDNAs incorporated from the reverse transcription primer, was used as the antisense primer in the PCR The PCR program consisted of 25 cycles of 94C for 30 s, 66 C for 30 s and 72C for 3 min The final extension step con-sisted of 72C for 5 min Ten microliters of the PCR product was checked by 1.2% agarose gel electrophoresis

TSAT-PCR

The amplified primary library was diluted 103-fold with sterile H2O for TSAT-PCR analyses A 1-lL aliquot was directly used as a template for the first PCR amplification with the tag-specific primer (5¢-GGATCCXXXXXXXXXX,

X represents each tag) and UP-I (5¢-CCAGACACTAT GCTCATA-3¢) The reaction was then carried out for 15 cycles with the following conditions: 94C for 30 s, 53–

55C for 30 s and 72 C for 30 s extension with TaKaRa

Ex Taq(TaKaRa), using a Bio-Rad Cycler (Bio-Rad, Her-cules, CA, USA) The resulting PCR product was diluted

103-fold with sterile H2O, and a 1 lL aliquot was used as a template for the second nested PCR amplification with the tag-specific primer and UP-II (5¢-CACTATGCTCATAC GACGCAGT-3¢) with the following conditions: 25–30 cycles of 94C for 30 s, 60 C for 30 s and 72 C for 30 s, using TaKaRa Ex Taq (TaKaRa)

DNA cloning and sequencing

The PCR products were cloned into pT19G-T vector (Gen-eray Biotech, Shanghai, China) Positive clones were screened by PCR with M13 reverse and M13 forward (220 bp) primers while located in the vector; sequencing reactions were performed by Sanny Bio-Tech (Shanghai, China)

Acknowledgements

This work was supported by Shanghai Leading Academic Discipline Project (B205)

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Supporting information

The following supplementary material is available: Table S1 The amplified longer cDNA sequences This supplementary material can be found in the online version of this article

Please note: Wiley-Blackwell is not responsible for the content or functionality of any supplementary materials supplied by the authors Any queries (other than missing material) should be directed to the corresponding author for the article

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