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cDNA libraries prepared from such mRNA are representative of the pattern and extent of gene expression that uniquely define particular kinds of differentiated cells.. OR PCR amplification

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heterologous probes because they are not derived from the homologous (same)

organism

Problems arise if a complete eukaryotic gene is the cloning target; eukaryotic

genes can be tens or even hundreds of kilobase pairs in size Genes this size are

frag-mented in most cloning procedures Thus, the DNA identified by the probe may

represent a clone that carries only part of the desired gene However, most cloning

strategies are based on a partial digestion of the genomic DNA, a technique that

generates an overlapping set of genomic fragments This being so, DNA segments

from the ends of the identified clone can now be used to probe the library for

clones carrying DNA sequences that flanked the original isolate in the genome

Re-peating this process ultimately yields the complete gene among a subset of

overlap-ping clones

cDNA Libraries Are DNA Libraries Prepared from mRNA

cDNAsare DNA molecules copied from mRNA templates cDNA libraries are

con-structed by synthesizing cDNA from purified cellular mRNA These libraries

pre-sent an alternative strategy for gene isolation, especially eukaryotic genes Because

most eukaryotic mRNAs carry 3-poly(A) tails, mRNA can be selectively isolated

from preparations of total cellular RNA by oligo(dT)-cellulose chromatography

(Figure 12.9) DNA copies of the purified mRNAs are synthesized by first

anneal-ing short oligo(dT) chains to the poly(A) tails These oligo(dT) chains serve as

primers for reverse transcriptase–driven synthesis of DNA (Figure 12.10)

[Ran-dom oligonucleotides can also be used as primers, with the advantages being less

dependency on poly(A) tracts and increased likelihood of creating clones

repre-senting the 5-ends of mRNAs.] Reverse transcriptase is an enzyme that

synthe-sizes a DNA strand, copying RNA as the template DNA polymerase is then used

to copy the DNA strand and form a double-stranded (duplex DNA) molecule

Linkers are then added to the DNA duplexes rendered from the mRNA

Known amino acid sequence:

Phe Met Glu Trp His Lys Asn

Possible mRNA sequence:

UUU UUC

AUG GAA GAG

UGG CAU CAC

AGG AAA

AAU AAC

1

2

3

4

5

(a)

Cellulose matrix with

covalently attached

oligo(dT) chains

Chromatography

column

Add solution

of total RNA in

0.5 M NaCl

Total RNA in

0.5 M NaCl

5 4

3 2

Wash with 0.5 M

NaCl to remove residual rRNA, tRNA

Eukaryotic mRNA with poly(A) tails hybridizes to oligo(dT) chains on cellulose;

rRNA, tRNA pass right through column

0.5 NaCl

Elute mRNA from column with H2O

H2O

Collect and evaluate mRNA solution

ANIMATED FIGURE 12.9 Isolation of eukaryotic mRNA via oligo(dT)-cellulose chromatography.

(a) In the presence of 0.5 M NaCl, the poly(A) tails of eukaryotic mRNA anneal with short oligo(dT) chains

cova-lently attached to an insoluble chromatographic matrix such as cellulose Other RNAs, such as rRNA (green), pass

right through the chromatography column (b) The column is washed with more 0.5 M NaCl to remove residual

contaminants (c) Then the poly(A) mRNA (red) is recovered by washing the column with water because the

base pairs formed between the poly(A) tails of the mRNA and the oligo(dT) chains are unstable in solutions of

low ionic strength See this figure animated at www.cengage.com/login.

Image not available due to copyright restrictions

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Any given DNA fragment is unique solely by virtue of its specific

nucleotide sequence The only practical way to find one

particu-lar DNA segment among a vast population of different DNA

frag-ments (such as you might find in genomic DNA preparations) is

to exploit its sequence specificity to identify it In 1975, E M

Southern invented a technique capable of doing just that

Electrophoresis

Southern first fractionated a population of DNA fragments

according to size by gel electrophoresis (see step 2 in figure) The

electrophoretic mobility of a nucleic acid is inversely proportional

to its molecular mass Polyacrylamide gels are suitable for

separa-tion of nucleic acids of 25 to 2000 bp Agarose gels are better if the

DNA fragments range up to 10 times this size Most preparations

of genomic DNA show a broad spectrum of sizes, from less than 1

kbp to more than 20 kbp Typically, no discrete-size fragments are

evident following electrophoresis, just a “smear” of DNA

through-out the gel

Blotting

Once the fragments have been separated by electrophoresis

(step 3), the gel is soaked in a solution of NaOH Alkali

dena-tures duplex DNA, converting it to single-stranded DNA After

the pH of the gel is adjusted to neutrality with buffer, a sheet of

absorbent material soaked in a concentrated salt solution is then

placed over the gel, and salt solution is drawn through the gel in

a direction perpendicular to the direction of electrophoresis

(step 4) The salt solution is pulled through the gel in one of

three ways: capillary action (blotting), suction (vacuum blotting), or

electrophoresis (electroblotting) The movement of salt solution

through the gel carries the DNA to the absorbent sheet, which

binds the single-stranded DNA molecules very tightly, effectively

immobilizing them in place on the sheet Note that the

distribu-tion pattern of the electrophoretically separated DNA is main-tained when the single-stranded DNA molecules bind to the ab-sorbent sheet (step 5 in figure) The sheet is then dried Next, in

the prehybridization step, the sheet is incubated with a solution

containing protein (serum albumin, for example) and/or a detergent such as sodium dodecylsulfate The protein and detergent molecules saturate any remaining binding sites for DNA on the absorbent sheet, so no more DNA can bind nonspecifically

Hybridization

To detect a particular DNA within the electrophoretic smear of countless DNA fragments, the prehybridized sheet is incubated in

a sealed plastic bag with a solution of specific probe molecules

(step 6 in figure) A probe is usually a single-stranded DNA of

de-fined sequence that is distinctively labeled, either with a radioac-tive isotope (such as 32P) or some other easily detectable tag The nucleotide sequence of the probe is designed to be

complemen-tary to the sought-for or target DNA fragment The single-stranded

probe DNA anneals with the single-stranded target DNA bound

to the sheet through specific base pairing to form a DNA duplex

This annealing, or hybridization as it is usually called, labels the

target DNA, revealing its position on the sheet For example, if the probe is 32P-labeled, its location can be detected by autoradi-ographic exposure of a piece of X-ray film laid over the sheet (step 7 in figure)

Southern’s procedure has been extended to the identification of specific RNA and protein molecules In a play on Southern’s name, the identification of particular RNAs following separation by gel

electrophoresis, blotting, and probe hybridization is called North-ern blotting The analogous technique for identifying protein

mol-ecules is termed Western blotting In Western blotting, the probe of

choice is usually an antibody specific for the target protein

䊳 The Southern blotting technique involves the transfer of electrophoretically separated DNA fragments to an absorbent sheet and subsequent detection of specific DNA sequences A preparation of DNA fragments [typically a restriction

digest, (1)] is separated according to size by gel electrophoresis (2) The

separa-tion pattern can be visualized by soaking the gel in ethidium bromide to stain

the DNA and then illuminating the gel with UV light (3) Ethidium bromide

mol-ecules intercalated between the hydrophobic bases of DNA are fluorescent under UV light The gel is soaked in strong alkali to denature the DNA and then neutralized in buffer Next, the gel is placed on a sheet of DNA-binding material

and concentrated salt solution is passed through the gel (4) to carry the DNA fragments out of the gel where they are bound tightly to the sheet (5).

Incubation of the sheet with a solution of labeled, single-stranded probe DNA

(6) allows the probe to hybridize with target DNA sequences complementary to

it The location of these target sequences is then revealed by an appropriate

means of detection, such as autoradiography (7).

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1 2

3 4

5

6

7

+ –

DNA

Digest DNA with restriction endonucleases

DNA restriction fragments

Perform agarose gel electrophoresis

on the DNA fragments from different digests

Buffer solution Agarose

gel

DNA fragments fractionated by size (visible under UV light if gel is soaked in ethidium bromide)

Longer DNA fragments

Shorter DNA fragments

Transfer (blot) gel to absorbent sheet using Southern blot technique

Soak gel in NaOH, neutralize Sheet of DNA-absorbing material Gel Wick Buffer

Weight Absorbent paper

DNA fragments are bound to the

sheet in positions identical to

those on the gel

Hybridize sheet with

radioactively

labeled probe

Radioactive

probe solution

Expose sheet to X-ray film;

resulting autoradiograph shows hybridized DNA fragments

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templates, and the cDNA is cloned into a suitable vector Once a cDNA derived from a particular gene has been identified, the cDNA becomes an effective probe for screening genomic libraries for isolation of the gene itself

Because different cell types in eukaryotic organisms express selected subsets of genes, RNA preparations from cells or tissues in which genes of interest are selec-tively transcribed are enriched for the desired mRNAs cDNA libraries prepared from such mRNA are representative of the pattern and extent of gene expression that uniquely define particular kinds of differentiated cells cDNA libraries of many normal and diseased human cell types are commercially available, including cDNA libraries of many tumor cells Comparison of normal and abnormal cDNA libraries,

in conjunction with two-dimensional gel electrophoretic analysis (see Appendix to Chapter 5) of the proteins produced in normal and abnormal cells, is a promising new strategy in clinical medicine to understand disease mechanisms

Expressed Sequence Tags When a cDNA library is prepared from the mRNAs syn-thesized in a particular cell type under certain conditions, these cDNAs represent the nucleotide sequences (genes) that have been expressed in this cell type under

these conditions Expressed sequence tags (ESTs) are relatively short (⬃200

nucleo-tides or so) sequences obtained by determining a portion of the nucleotide se-quence for each insert in randomly selected cDNAs An EST represents part of a gene that is being expressed Probes derived from ESTs can be labeled, radioactively

or otherwise, and used in hybridization experiments to identify which genes in a ge-nomic library are being expressed in the cell For example, labeled ESTs can be

hy-bridized to a gene chip (see following discussion).

Add reverse transcriptase and substrates dATP, dTTP, dGTP, dCTP

(a) First-strand

cDNA synthesis

mRNA cDNA

Heteroduplex

Add RNase H, DNA polymerase, and dATP, dTTP, dGTP, dCTP; mRNA degraded by RNase H

(b)

DNA polymerase copies first-strand cDNA using RNA segments as primer

DNA fragments joined by DNA ligase

DNA polymerase

cDNA duplex

(c)

(d)

EcoRI linkers,

T4 DNA ligase

EcoRI-ended cDNA duplexes for cloning

(e)

cDNA cDNA

P

ACTIVE FIGURE 12.10 Reverse

transcriptase–driven synthesis of cDNA from oligo(dT)

primers annealed to the poly(A) tails of purified

eukary-otic mRNA (a) Oligo(dT) chains serve as primers for

synthesis of a DNA copy of the mRNA by reverse

tran-scriptase Following completion of first-strand cDNA

synthesis by reverse transcriptase, RNase H and DNA

polymerase are added (b) RNase H specifically digests

RNA strands in DNA ⬊RNA hybrid duplexes DNA

poly-merase copies the first-strand cDNA, using as primers the

residual RNA segments after RNase H has created nicks

and gaps (c) DNA polymerase has a 5→3 exonuclease

activity that removes the residual RNA as it fills in with

DNA The nicks remaining in the second-strand DNA are

sealed by DNA ligase (d), yielding duplex cDNA EcoRI

adapters with 5 -overhangs are then ligated onto the

cDNA duplexes (e) using phage T4 DNA ligase to create

EcoRI-ended cDNA for insertion into a cloning vector.

Test yourself on the concepts in this figure at

www.cengage.com/login.

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DNA Microarrays (Gene Chips) Are Arrays of Different Oligonucleotides

Immobilized on a Chip

Robotic methods can be used to synthesize combinatorial libraries of DNA

oligonucleotides directly on a solid support, such that the completed library is a

two-dimensional array of different oligonucleotides (see the Critical Developments

in Biochemistry box on combinatorial libraries, page 361) Synthesis is performed

by phosphoramidite chemistry (Figure 11.29) adapted into a photochemical

HUMAN BIOCHEMISTRY

The Human Genome Project

Completed in 2003, the Human Genome Project was a 13-year

col-laborative international, government- and private-sponsored effort

to map and sequence the entire human genome, some 3 billion

base pairs distributed among the two sex chromosomes (X and Y)

and 22 autosomes (chromosomes that are not sex chromosomes).

A primary goal was to identify and map at least 3000 genetic

mark-ers(genes or other recognizable loci on the DNA), which were

evenly distributed throughout the chromosomes at roughly 100-kb

intervals At the same time, determination of the entire nucleotide

sequence of the human genome was undertaken J Craig Venter

and colleagues working at Celera, a private corporation, took an

alternative approach based on computer alignment of sequenced

human DNA fragments A working draft of the human genome

was completed in June 2000 and published in February 2001 An

ancillary part of the project has focused on sequencing the

genomes of other species (such as yeast, Drosophila melanogaster

[the fruit fly], mice, and Arabidopsis thaliana [a plant]) to reveal

comparative aspects of genetic and sequence organization (Table

12.1) Information about whole genome sequences of organisms

has created a new branch of science called bioinformatics: the

study of the nature and organization of biological information

Bioinformatics includes such approaches as functional genomics

and proteomics Functional genomics addresses global issues of gene

expression, such as looking at all the genes that are activated

dur-ing major metabolic shifts (as from growth under aerobic to

growth under anaerobic conditions) or during embryogenesis and

development of organisms Transcriptome is the word used in

functional genomics to define the entire set of genes expressed (as

mRNAs transcribed from DNA) in a particular cell or tissue under

defined conditions Functional genomics also provides new

in-sights into evolutionary relationships between organisms

Pro-teomics is the study of all the proteins expressed by a certain cell or

tissue under specified conditions Typically, this set of proteins is

revealed by running two-dimensional polyacrylamide gel

elec-trophoresis on a cellular extract or by coupling protein separation

techniques to mass spectrometric analysis

The Human Genome Project has proven to be very beneficial

to medicine Many human diseases have been traced to genetic

de-fects whose position within the human genome has been

identi-fied As of 2007, the Human Gene Mutation Database (HGMD)

listed more than 56,000 mutations in more than 2100 nuclear

genes associated with human disease Among these are

cystic fibrosis gene

the breast cancer genes, BRCA1 and BRCA2

Duchenne muscular dystrophy gene* (at 2.4 megabases, one of the

largest known genes in any organism)

Huntington’s disease gene neurofibromatosis gene neuroblastoma gene (a form of brain cancer) amyotrophic lateral sclerosis gene (Lou Gehrig’s disease) melanocortin-4 receptor gene (obesity and binge eating) fragile X-linked mental retardation gene*

as well as genes associated with the development of diabetes, a

variety of other cancers, and affective disorders such as schizophre-nia and bipolar affective disorder (manic depression).

*X-chromosome–linked gene As of 2007, more than 295 disease-related

genes have been mapped to the X chromosome (source: the GeneCards

website at the Weizmann Institute of Science, Israel.)

Marchantia3chloroplast genome 0.187 1986

Marchantia3mitochondrial genome 0.187 1992 Variola (smallpox) virus 0.186 1993

Haemophilus influenzae4 1.830 1995 (Gram-negative bacterium)

Mycobacterium genitalium 0.58 1995 (mycobacterium)

Escherichia coli (Gram-negative 4.64 1996 bacterium)

Saccharomyces cerevisiae (yeast) 12.1 1996

Methanococcus jannaschii 1.66 1998 (archaeon)

Arabidopsis thaliana (green plant) 115 2000

Caenorhabditis elegans (simple 88 1998 animal: nematode worm)

Drosophila melanogaster (fruit fly) 117 2000

Pan troglodytes (chimpanzee) 3109 2005

1 Data available from the National Center for Biotechnology Information at the National

Library of Medicine Website: http://www.ncbi.nlm.nih.gov/

2 Genome size is given as millions of base pairs (mb).

3Marchantia is a bryophyte (a nonvascular green plant).

4 The first complete sequence for the genome of a free-living organism.

TABLE 12.1 Completed Genome Nucleotide Sequences 1

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dures are referred to as “gene chips” because the oligonucleotide sequences syn-thesized upon the chip represent the sequences of chosen genes Typically, the oligonucleotides are up to 25 nucleotides long (there are more than 1015possible sequence arrangements for 25-mers made from four bases), and as many as 100,000 different oligonucleotides can be arrayed on a chip 1 cm square The oligonucleotides on such gene chips are used as the probes in a hybridization ex-periment to reveal gene expression patterns Figure 12.11 shows one design for gene chip analysis of gene expression

OR

PCR amplification purification

Excitation

Robotic synthesis

of oligonucleotide arrays

ESTs or other DNA clones

Hybridize target to microarray

Reverse transcription Label with fluor dyes

Gene chip

Emission

Computer analysis

(a)

(b)

FIGURE 12.11 Gene chips (DNA microarrays) in the analysis of gene expression Here

is one of many analytical possibilities based on DNA microarray technology: (1) Gene

segments (for example, ESTs) are isolated and amplified by PCR (see Figure 12.18),

and the PCR products are robotically printed onto coated glass microscope slides to

create a gene chip The gene chip usually is considered the “probe” in a “target ⬊probe”

screening experiment (2) Target preparation: Total RNA from two sets of cell

treat-ments (control and test treatment) are isolated, and cDNA is produced from the two

batches of RNA via reverse transcriptase During cDNA production, the control is

la-beled with a specific fluorescent marker (green, for example) and the test treatment

is labeled with a different fluorescent marker (red, for example), so the wavelength of

fluorescence allows discrimination between the two different sets of cDNAs The two

batches of labeled cDNA are pooled and hybridized to the gene chip Laser excitation

of the hybridized gene chip with light of appropriate wavelength allows collection of

data indicating the intensities of fluorescence, and hence the degree of hybridization

of the two different probes with the gene chips Because the location of genes on

the gene chip is known, which genes are expressed (or not) and the degree to which

they are expressed is revealed by the fluorescent patterns (Adapted from Figure 1 in

Duggan, D J., et al., 1999 Expression profiling using cDNA microarrays Nature Genetics 21

supple-ment:10–14.)

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12.3 Can the Cloned Genes in Libraries Be Expressed?

Expression Vectors Are Engineered So That the RNA or Protein Products

of Cloned Genes Can Be Expressed

Expression vectors are engineered so that any cloned insert can be transcribed into

RNA, and, in many instances, even translated into protein cDNA expression

li-braries can be constructed in specially designed vectors Proteins encoded by the

various cDNA clones within such expression libraries can be synthesized in the host

cells, and if suitable assays are available to identify a particular protein, its

corre-sponding cDNA clone can be identified and isolated Expression vectors designed

for RNA expression or protein expression, or both, are available

RNA Expression A vector for in vitro expression of DNA inserts as RNA transcripts

can be constructed by putting a highly efficient promoter adjacent to a versatile

cloning site Figure 12.12 depicts such an expression vector Linearized

recombi-nant vector DNA is transcribed in vitro using SP6 RNA polymerase Large amounts

of RNA product can be obtained in this manner; if radioactive or

fluorescent-labeled ribonucleotides are used as substrates, fluorescent-labeled RNA molecules useful as

probes are made

Protein Expression Because cDNAs are DNA copies of mRNAs, cDNAs are

unin-terrupted copies of the exons of expressed genes Because cDNAs lack introns, it

is feasible to express these cDNA versions of eukaryotic genes in prokaryotic hosts

that cannot process the complex primary transcripts of eukaryotic genes To

press a eukaryotic protein in E coli, the eukaryotic cDNA must be cloned in an

ex-pression vector that contains regulatory signals for both transcription and

transla-tion Accordingly, a promoter where RNA polymerase initiates transcription as well

as a ribosome-binding site to facilitate translation are engineered into the vector just

upstream from the restriction site for inserting foreign DNA The AUG initiation

codon that specifies the first amino acid in the protein (the translation start site) is

contributed by the insert (Figure 12.13)

Strong promoters have been constructed that drive the synthesis of foreign

pro-teins to levels equal to 30% or more of total E coli cellular protein An example is the

hybrid promoter, ptac, which was created by fusing part of the promoter for the E coli

genes encoding the enzymes of lactose metabolism (the lac promoter) with part of

the promoter for the genes encoding the enzymes of tryptophan biosynthesis (the

pro-moter is not induced to drive transcription of the foreign insert until the cells are

ex-posed to inducers that lead to its activation Analogs of lactose (a -galactoside) such

as isopropyl- -thiogalactoside, or IPTG, are excellent inducers of ptac Thus, expression

of the foreign protein is easily controlled (See Chapter 29 for detailed discussions

of inducible gene expression.)

Perhaps the most widely used protein expression system is based on the pET

plas-mid Transcription of the cloned gene insert is under the control of the

bacterio-phage T7 RNA polymerase promoter in pET This promoter is not recognized by

the E coli RNA polymerase, so transcription can only occur if the T7 RNA

po-lymerase is present in host cells Host E coli cells are engineered so that the T7 RNA

polymerase gene is inserted in the host chromosome under the control of the lac

promoter IPTG induction triggers T7 RNA polymerase production and subsequent

transcription and translation of the pET insert The bacteriophage T7 RNA

po-lymerase is so active that most of the host cell’s resources are directed into protein

expression and levels of expressed protein approach 50% of total cellular protein

The bacterial production of valuable eukaryotic proteins represents one of the

most important uses of recombinant DNA technology For example, human insulin

for the clinical treatment of diabetes is now produced in bacteria

2 1

3

Polylinker cloning site

Foreign DNA

RNA transcription by SP6 RNA polymerase

Runoff SP6 RNA transcript

SP6 RNA polymerase

Insert foreign DNA at polylinker cloning site SP6 promoter

Linearize

ANIMATED FIGURE 12.12 Expression vectors carrying the promoter recognized by the RNA polymerase of bacteriophage SP6 are useful for the pro-duction of multiple RNA copies of any DNA inserted at the polylinker Before transcription is initiated, the circu-lar expression vector is linearized by a single cleavage at

or near the end of the insert so that transcription

termi-nates at a fixed point See this figure animated at

www.cengage.com/login.

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Analogous systems for expression of foreign genes in eukaryotic cells include

vec-tors carrying promoter elements derived from mammalian viruses, such as simian

virus 40 (SV40), the Epstein–Barr virus, and the human cytomegalovirus (CMV) A

sys-tem for high-level expression of foreign genes uses insect cells infected with the

bac-ulovirus expression vector Bacbac-uloviruses infect lepidopteran insects (butterflies and

moths) In engineered baculovirus vectors, the foreign gene is cloned downstream

of the promoter for polyhedrin, a major viral-encoded structural protein, and the

recombinant vector is incorporated into insect cells grown in culture Expression from the polyhedrin promoter can lead to accumulation of the foreign gene prod-uct to levels as high as 500 mg/L

Technologies for the expression of recombinant proteins in mammalian cell cul-tures are commercially available These technologies have the advantage that the unique post-translational modifications of proteins (such as glycosylation; see Chap-ter 31) seen in mammalian cells take place in vivo so that the expressed protein is produced in its naturally occurring form

Screening cDNA Expression Libraries with Antibodies Antibodies that specifically cross-react with a particular protein of interest are often available If so, these anti-bodies can be used to screen a cDNA expression library to identify and isolate cDNA clones encoding the protein The cDNA library is introduced into host bacteria, which are plated out and grown overnight, as in the colony hybridization scheme pre-viously described DNA-binding nylon membranes are placed on the plates to obtain

a replica of the bacterial colonies The nylon membrane is then incubated under con-ditions that induce protein synthesis from the cloned cDNA inserts, and the cells are treated to release the synthesized protein The synthesized protein binds tightly to the nylon membrane, which can then be incubated with the specific antibody Binding of the antibody to its target protein product reveals the position of any cDNA clones ex-pressing the protein, and these clones can be recovered from the original plate Like other libraries, expression libraries can be screened with oligonucleotide probes, too

Fusion Protein Expression Some expression vectors carry cDNA inserts cloned directly into the coding sequence of a vector-borne protein-coding gene (Figure

12.15) Translation of the recombinant sequence leads to synthesis of a hybrid

pro-tein or fusion propro-tein The N-terminal region of the fused propro-tein represents amino

acid sequences encoded in the vector, whereas the remainder of the protein is en-coded by the foreign insert Keep in mind that the triplet codon sequence within the cloned insert must be in phase with codons contributed by the vector se-quences to make the right protein The N-terminal protein sequence contributed

by the vector can be chosen to suit purposes Furthermore, adding an N-terminal

p tac

ori

a m

p r

H

dIII

EcoRI

EcoRI

EcoRI

PstI

BglI

Polylinker

cloning site

pUR278 5.2 kbp

ANIMATED FIGURE 12.14 A ptac protein

expression vector contains the hybrid promoter ptac

derived from fusion of the lac and trp promoters.

Isopropyl--D -thiogalactoside, or IPTG, induces

expres-sion from ptac See this figure animated at www

.cengage.com/login.

Image not available due to copyright restrictions

Trang 9

signal sequence that targets the hybrid protein for secretion from the cell

simpli-fies recovery of the fusion protein A variety of gene fusion systems have been

de-veloped to facilitate isolation of a specific protein encoded by a cloned insert The

isolation procedures are based on affinity chromatography purification of the

fu-sion protein through exploitation of the unique ligand-binding properties of the

vector-encoded protein (Table 12.2)

Reporter Gene Constructs Are Chimeric DNA Molecules Composed

of Gene Regulatory Sequences Positioned Next to an Easily

Expressible Gene Product

Potential regulatory regions of genes (such as promoters) can be investigated by

placing these regulatory sequences into plasmids upstream of a gene, called a

reporter gene, whose expression is easy to measure Such chimeric plasmids are

Cla

I

H

dIII

I

Sa l Bam

HI

Ec oRI P

st I

a m p

r

l

o r i

Cloning site pUR278 5.2 kbp

ptac Codon: Cys Gln Lys Gly Asp Pro Ser Thr Leu Glu Ser Leu Ser Met

Cloning site: TGT CAA AAA GGG GAT CCG TCG ACT CTA GAA AGC TTA TCG ATG

ANIMATED FIGURE 12.15 A typical expression vector for the synthesis of a hybrid protein.

The cloning site is located at the end of the coding region for the protein -galactosidase Insertion of foreign

DNAs at this site fuses the foreign sequence to the -galactosidase coding region (the lacZ gene) IPTG

induces the transcription of the lacZ gene from its promoter plac , causing expression of the fusion protein.

(Adapted from Figure 2, Rüther, U., and Müller-Hill, B., 1983 EMBO Journal 2:1791–1794.See this figure animated at

www.cengage.com/login.

Fusion Protein Secreted?* Affinity Ligand

-Galactosidase No p-Aminophenyl--D-thiogalactoside

(APTG)

Chloramphenicol acetyltransferase Yes Chloramphenicol

(CAT)

Glutathione-S-transferase (GST) No Glutathione

Maltose-binding protein (MBP) Yes Starch

Hemagglutinin (HA) peptide No HA-peptide antibody

*This indicates whether combined secretion–fusion gene systems have led to secretion of the protein product from the

TABLE 12.2 Gene Fusion Systems for Isolation of Cloned Fusion Proteins

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gene with many inherent advantages is that encoding the green fluorescent

re-porter gene systems, GFP does not require any substrate to measure its activity, nor is it dependent on any cofactor or prosthetic group Detection of GFP re-quires only irradiation with near-UV or blue light (400-nm light is optimal), and the green fluorescence (light of 500 nm) that results is easily observed with the naked eye, although it can also be measured precisely with a fluorometer Figure 12.16 demonstrates the use of GFP as a reporter gene EGFP is an engineered ver-sion of GFP that shows enhanced fluorescent properties

Specific Protein–Protein Interactions Can Be Identified Using the Yeast Two-Hybrid System

Specific interactions between proteins (so-called protein–protein interactions) lie at the heart of many essential biological processes One method to identify specific protein–protein interactions in vivo is through expression of a reporter gene whose

transcription is dependent on a functional transcriptional activator, the GAL4

pro-tein The GAL4 protein consists of two domains: a DNA-binding (or DB) domain and

a transcriptional activation (or TA) domain Even if expressed as separate proteins,

these two domains will still work, provided they can be brought together The method depends on two separate plasmids encoding two hybrid proteins, one consisting of

the GAL4 DB domain fused to protein X and the other consisting of the GAL4 TA

do-main fused to protein Y (Figure 12.17a) If proteins X and Y interact in a specific

protein–protein interaction, the GAL4 DB and TA domains are brought together so

Nerve cord Oviducts Ovaries

FIGURE 12.16 Green fluorescent protein (GFP) as a

re-porter gene In the experiment here, GFP expression

depends on the promoter for the Drosophilia

melano-gaster Tdc2 gene Tdc2 encodes a neuronal tyrosine

de-carboxylase (TDC) whose expression is necessary for

egg laying in fruit flies (Bottom) Green fluorescence

highlights neuronal projections expressing the Tdc2

gene (Top) Diagram of a fly, its nervous system, and

ovaries Note that Tdc2 neurons innervate the ovaries

and oviducts of flies (See Cole, S H., et al., 2005 Two

func-tional but noncomplementing Drosophila tyrosine

decarboxy-lase genes Journal of Biological Chemistry 280:14948–14955 GFP

image courtesy of Shannon H Cole and Jay Hirsh, the University

of Virginia Fly image derived from the Atlas of Drosophila

Devel-opment by Volker Hartenstein, http://flybase.bio.indiana.edu/

allied-data/lk/interactive-fly/atlas/00contents.htm.)

TA

DB

lacZ Reporter Gene

(b)

(a)

lacZ Reporter Gene

X X

Y

Y

TA DB

FIGURE 12.17 The yeast two-hybrid system for

identify-ing protein–protein interactions If proteins X and Y

interact, the lacZ reporter gene is expressed Cells

expressing lacZ exhibit -galactosidase activity.

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