Transcript Slide 1
Using studies of gene
expression to investigate
species radiations in the
New Zealand alpine flora
Claudia Voelckel, Peter B Heenan, Peter J Lockhart
Southern Connection 2010
Why Gene Expression Studies?
Genomics
DNA
Transcription
mRNA
* Evolutionary
Transcriptomics
Translation
proteins
provide structure &
drive metabolism
substrate
product
Proteomics
Metabolomics
*Comparative transcript profiling within & between species
2
Outline
1. Transcriptomics and species radiation –
a case study
2. New tool in town – sequencing based
methods replace microarrays
3. Putting the new tool to the test –
case study revisited
4. Systems biology and species radiation
3
Outline
1. Transcriptomics and species radiation –
a case study
2. New tool in town – sequencing based
methods replace microarrays
3. Putting the new tool to the test –
case study revisited
4. Systems biology and species radiation
4
Pachycladon (Brassicaceae)
enysii
latisiliqua
stellatum
wallii
fastigiatum
enysii
cheesemanii
Pachycladon super-network, S. Joly, unpubl.
novaezealandiae
exile
Diversification in New Zealand Alpine Cress
Pachycladon fastigiatum
vs.
Pachycladon enysii
Habitat
Rosette
Habitat
Rosette
Flowering
Fruiting
Flowering
Fruiting
6
Sampling in the New Zealand Southern Alps
P. fastigiatum
P. enysii
7
Microarrays (DNA chips)
DNA chip
Sample 1
mRNA
AAAAAA3’
AAAAAA3’
TTTTTT5’
green-labeled
cDNA
Sample 2
AAAAAA3’
with gene probes
AAAAAA3’
TTTTTT5’
TTTTTT5’
TTTTTT5’
mRNA
red-labeled
cDNA
DATA ANALYSIS
Expression ratio: log
intensity 1
intensity 2
8
Arabidopsis microarray
(20,468 genes)
310 genes (1.5%)
up in P. fastigiatum
324 genes (1.6%)
up in P. enysii
up-regulation of ESM1 and
ESP predict P. fastigiatum to
produce isothiocyanates and
P. enysii to produce nitriles
Probability of differential expression ( log odds ratio)
Results
P. fastigiatum
ESM1
P. enysii
ESP
Magnitude of differential expression (log fold change)
Voelckel et al. 2008, Molecular Ecology, 17: 4740–4753
9
(Aliphatic) Glucosinolates (GLS) – Synthesis and hydrolysis genes
Chain
elongation
pathway
MAM, MAM-I,
MAM-D, BCAT4
Homomethionine
(C3 GLS)
Dihomomethionine
(C4 GLS)
CYP79, CYP83, C-S
lyase, SGT, SOT
GLS core
pathway
FMO
Methylsulfinylalkyl GLS
AOP2
Alkenyl GLS
AOP3
Hydroxalkyl GLS
GS-OH
Methylthioalkyl
GLS
Side chain modification
Methionine
Hydroxalkenyl GLS
Glucosinolate hydrolysis
Thiocyanates
ESM1
Isothiocyanates
ESP
Nitriles
(Eithionitriles)
myrosinase
Oxazolidine-2-thione
HPLC Test of Microarray Prediction
Gene
Regulation
(log ratio)
Prediction
Test
P. enysii
ESP (At1g54040)
6.29
Nitriles
in P. enysii
HP (μ mol/g fw)
14
Allyl
3MTP
12
10
8
6
4
2
0
Isothiocyanates
- 4.62
P. fastigiata
Isothiocyanates
in P. fastigiata
HP (μ mol/g fw)
ESM 1 (At3g14210)
Nitriles/Epithionitriles
3MSOP
7
6
5
4
3
2
1
0
Isothiocyanates
Nitriles/Epithionitriles
Hypothesis: Role for herbivory in species diversification?
Voelckel et al. 2008, Molecular Ecology, 17: 4740–4753
Outline
1. Transcriptomics and species radiation –
a case study
2. New tool in town – sequencing based
methods replace microarrays
3. Putting the new tool to the test –
case study revisited
4. Systems biology and species radiation
12
NEXT-GEN Sequencing
Inexpensive production of large volumes of sequence data
Several platforms (Roche/454, Illumina/Solexa, ABI/SOLiD)
Many applications (de-novo assembly, re-sequencing, epigenetics
and chromatin structure, metagenomics)
Revolutionary tools for gene expression analysis
(e.g. Tag profiling, RNA-seq)
Tag Profiling
AAA3’
AAA3’
AAA3’
AAA3’
Sample 1
AAA3’
AAA3’
AAA3’
AAA3’
mRNA
mRNA
Solexa Genome
Analyzer
AAA3’
Sample 2
AAA3’
AAA3’
AAA3’
AAA3’
AAA3’
AAA3’
AAA3’
18 bp tag library
18 bp tag library
TAG MAPPING
Reference
Sample 1
Sample 2
STATISTICAL ANALYSIS
log
count 1
count 2
1
2
2
1
1
1
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Advantages & Challenges of Tag Profiling
Advantages
open to any organism
any expressed transcript detectable (1 copy/cell)
less RNA needed (tag profiling = 1µg, microarrays = 100 µg)
minor data normalization/no background
Challenges
mapping 18 bp tags (sequence differences Pachycladon/Arabidopsis)
counting tags per gene (noise, location, abundance)
statistical analysis of differential expression (proportion data)
15
Outline
1. Transcriptomics and species radiation –
a case study
2. New tool in town – sequencing based
methods replace microarrays
3. Putting the new tool to the test –
case study revisited
4. Systems biology and species radiation
16
Tag Profiling Results
17423 A. thaliana loci
P. fastigiatum
P. enysii
(noise filter 10, count most
abundant tag per gene)
2654 genes (15.2%) up
in P. fastigiatum
1857 genes (10.7%) up
in P. enysii
(tagwise normalization,
-log2(1.5) < logfc < log2 (1.5))
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Microarrays (MA) vs. Tag Profiling (TP)
MA:
20,468 genes
TP:
17,423 genes
8863 11605 5818
PF
MA
269
41
Locus
AT3G14210, ESM1
2613
lfc MA
-4.6
TP
lfc TP
-35.0
PE
310 up in PF
324 up in PE
MA
274 50 1807
Locus
AT1G54040, ESP
lfc MA
6.3
TP
2654 up in PF
1857 up in PE
lfc TP
7.0
more differentially expressed genes in TP (10.7-15.2% ) than with MA (1.5-1.6% )
13.2% (PF) and 15.4 % (PE) of MA results confirmed by TP results
biological inferences from both studies identical
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Tag Profiling is dead, long live RNA-Seq!
One year later: Tag profiling works for a non-model plant with
a distant reference transcriptome! Let’s do more experiments!
2 Oct 09: “Illumina is discontinuing the support of Tag Profiling and
will no longer be manufacturing the reagent kits for this application.”
“...not a popular product, too expensive, tricky chemistry.. instead use:
RNA-Seq!”
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RNA-Sequencing
AAA3’
AAA3’
AAA3’
AAA3’
Sample 1
AAA3’
AAA3’
AAA3’
AAA3’
mRNA
mRNA
Sample 2
Solexa Genome
Analyzer
cDNA library
cDNA library
READ MAPPING
Reference
Sample 1
Sample 2
STATISTICAL ANALYSIS
log
count 1 gene
count 2 length
1
2
2
1
1
1
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Advantages & Challenges of RNA-Seq
Advantages
whole transcriptome coverage and longer reads
large dynamic range of expression levels
base-resolution expression profiles for each gene
multiplex-compatible
sequence variation in transcribed regions (e.g. SNPs)
splicing isoforms, gene boundaries, novel transcribed regions
Great for non-model organisms!
Challenges
read mapping (reference transcriptome)
quantification of reads (lack of software, but packages evolve: e.g. edgeR)
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Planned RNA Sequencing Projects
EST library for Pachcladon fastigiatum
(31,116 genes, 79% of Arabidopsis)
Adaptation to warmer
climates in Pachycladon
SNP development in Pachycladon
Allopolyploidy and genome bias in
Pachycladon
22
Outline
1. Transcriptomics and species radiation –
a case study
2. New tool in town – sequencing based
methods replace microarrays
3. Putting the new tool to the test –
case study revisited
4. Systems biology and species radiation
23
How about System Biology?
Genomics
DNA
Transcription
mRNA
* Evolutionary
Transcriptomics
Translation
proteins
provide structure &
drive metabolism
substrate
product
* Evolutionary
Proteomics
* Evolutionary
Metabolomics
*Comparative transcript, protein and metabolite profiling within &
between species
24
Questions & Approach
EN
Q: Ecological drivers of
diversification?
ST
A: Comparative gene and
protein expression profiling
in common gardens
FA
WA
NZ
EN
CH
P. cheesemanii
(CH)
LA
P. exile
(EX)
EX
P. novae-zelandiae
(NZ)
People who helped:
Peter Heenan
Murray Dawson
Lincoln
Plant growth
Michael
Reichelt
Jena
Glucosinolate
analysis
Sydney
Protein analysis
Auckland
Microarray analysis
Paul A. Haynes
Mehdi Mirzai
Dana Pascovici
Palmy
Link all data
Claudia Voelckel
Pete Lockhart
Bart Janssen
Luke Luo
Silvia Schmidt
Submitted
Overall correlation:
T = transcript profiling, P = protein profiling
9601 loci
1489 loci
T
TP
P
8527 1074
P CH
415
EX
NZ
0.52
0.43
0.30
EX
0.47
0.45
0.32
NZ
0.40
0.36
0.34
T
CH
similar to other non-plant systems (0.2-0.5)
Specific Genes Found by T AND P
EX+NZ
CH
T
97
TP
29*
P
61
23%
32%
Interconversion of carbon dioxide and
bicarbonate (carbonic anhydrase)
Draught response
Serine racemase
CH+NZ
EX
T
18
TP
4
P
81
Draught response
P
228
Interconversion of carbon dioxide and
bicarbonate (carbonic anhydrase)
18%
4%
CH+EX
NZ
T
14
TP
8
36%
3%
Vegetative storage proteins
Testing Predictions from T & P: Glucosinolate Hydrolysis
Prediction
EX+NZ
CH
Test
P. cheesemanii
-
CH+NZ
EX
iso
CH+EX
NZ
-
EX+NZ
CH
CH+NZ
EX
CH+EX
NZ
nitriles
P. novae-zelandiae
Profiling Patterns Through the Phylogenetic Lens:
T
CH
EX
NZ
P
CH
EX
NZ
CH
1
0.91
0.74
CH
1
0.75
0.59
1
0.83
1
0.72
EX
NZ
=
1
EX
NZ
=
1
Glucosinolates
EX
≠
CH*
NZ
3MSOP
4MSOB
3-Butenyl
4MTB
8MSOO
6MSOH
7MSOH
4OHI3M
7MTH
1MOI3M
4MOI3M
3MTP
S-2OH3-But.
Allyl
NZ*
CH
EX
Thanks to:
New Zealand
Landcare: Peter Heenan, Kerry Ford, Murray Dawson, Kat Trought
Plant and Food: Bart Janssen, Luke Luo, Silvia Schmidt
AWC Genome Service: Pete Lockhart, Patrick Biggs, Lorraine Berry, Lesley Collins, Maurice Collins
Students: Christine Reinsch, Hanna Daniel, Helene Kretzmer
Australia
Macquarie University: Mehdi Mirzai, Dana Pascovici, Paul Haynes, Mark Westoby
Germany
MPICE: Michael Reichelt, Jonathan Gershenzon
Funding
Marsden & Humboldt Foundation
YOU!