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1
Lecture 12
Genetic Linkage Analysis and Map Construction
2
Experiments with Plant Hybrids (1866) Seed shape: 5474 round vs 1850 wrinkled Cotyledon color: 6022 yellow vs 2001 green Seed coat color: 705 grey-brown vs 224 white Pod shape: 882 inflated vs 299 constricted Unripe pod color: 428 green vs 152 yellow Flower position: 651 axial vs 207 terminal Stem length: 787 long (20-50cm) vs 277 short (185-230cm)
Rediscovered in 1900
4
Ear length of maize (East 1911)
5
P1: 7cm; P2: 17cm One locus
a=(17-7)/2=5; F2: 1/4 aa (7) + 2/4 Aa (12) + 1/4 AA (17) Two locus
a=(17-7)/4=2.5 F2: 1/16 (7) + 4/16 (9.5) + 6/16 (12) + 4/16 (14.5) +1/16 (17)
6
7
8
221
2 kaVF
)]([8)(
P2P121
F2
221
VVVPPk
kaP1 kaP2
2212
21 kaaVA
AVPPk
8)( 2
21
12
Mendel and Fisher
Annuals of Science 1:115-close to the values that Mendel expected under his theory that there must have been some manipulation, or omission, of data
13
Dominant trait: 1/3 AA + 2/3 Aa Family size: 10 Non-segregating (AA) : Segregating (Aa) = 1:2 (Mendel) Fisher: Pro {Aa family classified as AA} = 0.75^10=0.0563 Pro {Non-segregating (AA)} =2/3*(1-0.0563)=0.6291 Non-segregating (AA) : Segregating (Aa) = 0.3709 : 0.6291 = 1 : 1.6961
14
Genetic populations and pair-wise linkage analysis
15
Populations handled in QTL IciMapping Parent P1 Parent P2 Legends
HybridizationF1
Selfing1. P1BC1F1 7. F2 2. P2BC1F1
Repeated selfing9. P1BC2F1 13. P1BC1F2 8. F3 14. P2BC1F2 10. P2BC2F1
Doubled haploids15. P1BC2F2 16. P2BC2F2
11. P1BC2RIL 5. P1BC1RIL 4. F1RIL 6. P2BC1RIL 12. P2BC2RIL BC3F1, BC4F1 etc.
P1BC2F1 P1BC1F1 F1 P2BC1F1 P2BC2F1 Marker-assistedselection
19. P1BC2DH 17. P1BC1DH 3. F1DH 18. P2BC1DH 20. P2BC2DH CSS lines orIntrogression lines
P1 × CP P2 × CP P3 × CP Pn × CP CP=common parent
RIL family 1 RIL family 2 RIL family 3 RIL family i RIL family n
One NAM population
17
Marker C263 R830 R3166 XNpb387 R569 R1553 C128 C1402 XNpb81 C246 R2953 C1447 Grain width (mm)
Position (cM) 0.0 3.5 8.5 19.5 32.0 66.6 74.1 78.6 81.8 91.9 92.7 96.8
RIL1 0 0 0 0 0 0 0 0 0 0 0 0 2.33
RIL2 2 2 2 2 2 0 0 0 0 2 2 2 1.99
RIL3 0 2 2 2 2 2 2 2 2 2 2 2 2.24
RIL4 0 0 0 0 0 0 2 2 2 2 2 2 1.94
RIL5 0 0 0 0 0 2 2 0 0 0 0 0 2.76
RIL6 0 0 0 2 2 2 2 2 2 2 2 2 2.32
RIL7 0 0 0 0 0 0 0 0 0 0 0 0 2.32
RIL8 2 2 0 2 2 0 0 0 0 2 2 2 2.08
RIL9 0 0 0 0 2 2 0 0 0 0 0 0 2.24
RIL10 0 0 0 0 2 2 0 0 0 0 0 0 2.45
Example: 10 RILs in a rice population (Linkage map of Chr. 5)
Genetic markers in linkage analysis
Morphological traits
hybridization experiments
Cytogenetic and bio-chemistry markers (e.g. isozyme) DNA molecular markers
RFLP, SSR, SNP etc.
The four gametes (haplotypes) of an F1
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A
a
B
b
P1: AABB P2: aabb
A B
a b
F1: AaBb
A B
a b
A B a b (1-r)/2 (1-r)/2
A b B a r/2 r/2
Parental type Parental type Recombinant type
Recombinant type
Meiosis
Expected genotypic frequency in backcross and DH populations
P1: AABB; P2: aabb
20
MLE of recombination frequency Likelihood function Logarithm of likelihood MLE of r Fisher information Variance of estimated r
3241
4321
)()1()1(21
21
21)1(
21
!!!!!
4321
nnnnnnnn
rrCrrrrnnnn
nL
rnnrnnCL ln)()1ln()(lnln 3241
nnn
nnnnnnr 32
4321
32
)1()1()ln( 2
32241
2
2
rrn
rnn
rnnE
rdLdEI
nrr
IVr
)1(1
Significance test of linkage Null hypothesis H0: r = 0.5 (no genetic linkage, or locus A-a and B-b are independent) Alternative hypothesis HA Likelihood ratio test (LRT) or LOD score
)1(~])(
)5.0(ln[2 2 dfrL
rLLRT
)5.0()(
rLrLLOD
An example P1BC1 population Genotypes of two inbred parents P1 and P2 are AABB and aabb Observed samples of the four genotypes in P1BC1
AABB 162 AABb 40 AaBB 41 AaBb158
23
%20.2040181
15841401624140r
41002.4)1(nrrVr
Test of linkage Null hypothesis H0: r = 0.5 Alternative hypothesis HA Likelihood ratio test (LRT) (P<0.0001) and LOD score
24
153
41
103.6)()1(
)5.0()(
4321
3241
nnnn
nnnn rrrLrL
27.708])5.0(
)(ln[*2rLrLLRT
80.153])5.0(
)(log[rLrLLOD
Genotypic frequencies in RIL populations, compared with DH
25
DH population
Theoretical frequency
RIL population
Theoretical frequency
AABB f1=(1-r)/2 AABB f1=(1-R)/2
AAbb f2=r/2 AAbb f2=R/2
aaBB f3=r/2 aaBB f3=R/2
aabb f4=(1-r)/2 aabb f4=(1-R)/2
R=2r/(1+2r)
RIL Marker 1 Marker 2 Parent type or recombinant
C263 XNpb387 RIL1 0 or A 0 or A P1 type RIL2 2 or B 2 or B P2 type RIL3 0 or A 2 or B Recombinant RIL4 0 or A 0 or A P1 type RIL5 0 or A 0 or A P1 type RIL6 0 or A 2 or B Recombinant RIL7 0 or A 0 or A P1 type RIL8 2 or B 2 or B P2 type RIL9 0 or A 0 or A P1 type RIL10 0 or A 0 or A P1 type
n1=6 n2=2 n3=0 n4=2
R=2/10=0.2
r=0.125
LRT=17.72 (P=2.56 10-5)
LOD=3.85
Expected genotypic frequencies in F2 populations
MLE of r in F2: dominant markersLogarithm of the likelihood ratio MLE of r Variance of the estimated r
2)1( rk
)21ln()2ln()()23ln(ln 29
273
21 rrnrrnnrrnCL
knknnknC ln)1ln()()2ln( 9731
nnnnnnnnn
rk2
)32()32()1( 9
291912
)243(2)23)(2(
)21(2)2)(1(
2
22
rrnrrrr
knkkVr
MLE of r in F2: co-dominant markers (Newton-Raphson algorithm)
Log-likelihood function The first-order derivative of LogL f'(r) The second-order derivative of LogL f''(r) The iteration algorithm:
ri+1 = ri - f'(ri)/f''(ri)
)221ln(ln)22(
)1ln()22(lnln2
5738642
864291
rrnrnnnnnnrnnnnnnCL
25738642864291
221)24(22
122ln)
rrrn
rnnnnnn
rnnnnnn
drLd
22
25
2738642
2864291
2
2
)221()44(22
)1(22ln)
rrrrn
rnnnnnn
rnnnnnn
rdLd
MLE of r in F2: co-dominant markers (EM algorithm)
EM for expectation and maximization E-step: for an initial r0, calculate the probability of crossover in each marker type M-step: Update r, and repeat from the E-step
kkkn GRPnr )|(' 1
Expected probability of crossover
r= [n1 0+ n2 0.5+ n3 1 n8 0.5+ n9 0]/n
Estimated r after 3 EM iterations (r0=0.5)
Estimated r after 3 EM iterations (r0=0.25)
Estimated r after 3 EM iterations (r0=0.0)
Co-dominant markers in other populations
R=2r/(1+2r)
More populations (e.g. BC1F2, F3 etc): Generation transition matrix of
Distortion has little effect on linkage analysis!
DH pop Theo. Freq. Distortion Freq. in distortion
AABB f1=(1-r)/2 (1-r)/2 (1-r)/(1+s)
AAbb f2=r/2 r/2 r/(1+s)
aaBB f3=r/2 s r/2 r s/(1+s)
aabb f4=(1-r)/2 s (1-r)/2 (1-r) s/(1+s)
Sum 1 (1+s)/2 1
rssrssrsrr )1/()1()1/()1/(
Three-point analysis and linkage map construction
38
Linkage analysis of three markers
When (no interference),
When (complete interference), The order of the three loci can be determined after linkage analysis (3!/2=3 potential orders)
1 2 3, or 1 3 2, or 2 1 3 39
2312231213 12 rrrrr0
2312231213 )1)(1()1( rrrrr
1
231223122312231213 2)1()1( rrrrrrrrr
231213 rrr
Mapping distance and recombination frequency
Mapping distance Unit of mapping distance
M (Morgan) or cM (centi-Morgan), 1M=100cM
The function of mapping distance on recombination frequency (Mapping function):
40
231213 mmm
)(rfm
Common mapping functions
41
Morgan function (complete interference)
In M: m =r (M) In cM: m =r 100 (cM)
Haldane function (no interference) In M: In cM:
Kosambi function (interference depends on length of interval) In M: In cM:
)1( 221 mer
)21ln(50)( rrfm )1( 50/21 mer
rrm
2121ln
41
11
21
4
4
ee
m
m
r
rrm
2121ln25
1
121
25/
25/
eem
m
r
)21ln()( 21 rrfm
Comparison of the three functions (M
)
42
Recombination frequency
Map
ping
dis
tanc
e (c
M)
Three steps in linkage map construction Step 1: Grouping. Grouping can be based on
(i) a threshold of LOD score (ii) a threshold of marker distance (cM) (iii) anchor information
Step 2: Ordering. Three ordering algorithms are (i) SER: SERiation (Buetow and Chakravarti, 1987. Am J Hum Genet 41:180 188) (ii) RECORD: REcombination Counting and ORDering (Van Os et al., 2005. Theor Appl Genet 112: 30 40) (iii) nnTwoOpt: nearest neighbor was used for tour construction, and two-opt was used for tour improvement, similar to Travelling Salesman Problem (TSP) (Lin and Kernighan, 1973. Oper. Res. 21: 498 516.
Due to the large number of markers (n), it is impossible to compare all possible orders (say n=50, possible orders are n!/2=1.52x1064). Orders from the above algorithms are regional optimizations. Step 3: Rippling. Five rippling criteria are
(i) SARF (Sum of Adjacent Recombination Frequencies) (ii) SAD (Sum of Adjacent Distances) (iii) SALOD (Sum of Adjacent LOD scores) (iv) COUNT (number of recombination events)
Three steps in linkage map construction
The MAP functionality in QTL IciMapping
45
Interface of the MAP functionality
Map outputs:
Linkage map for each chromosome (A) or all
chromosomes (B)
A. Map of one chromosome B. Map of all chromosomes
An example map of seven chromosomes or groups
48
Linkage map and physical map
49
Species Size of haploid genome (kb)
Size of linkage map (cM)
kb/cM
Yeast 2.2 104 3700 6 Neurospora 4.2 104 500 80 Arabidopsis 7.0 104 500 140 Drosophila 2.0 105 290 700 Tomato 7.2 105 1400 510 Human 3.0 106 2710 1110 Wheat 1.6 107 2575 6214 Rice 4.4 105 1575 279 Corn 3.0 106 1400 2140
What is QTL Mapping? The procedure to map individual genetic factors with small effects on the quantitative traits, to specific chromosomal segments in the genome
The key questions in QTL mapping studies are: How many QTL are there? Where are they in the marker map? How large an influence does each of them have on the trait of interest?
Marker C263 R830 R3166 XNpb387 R569 R1553 C128 C1402 XNpb81 C246 R2953 C1447 Grain width (mm)
Position (cM) 0.0 3.5 8.5 19.5 32.0 66.6 74.1 78.6 81.8 91.9 92.7 96.8
RIL1 0 0 0 0 0 0 0 0 0 0 0 0 2.33
RIL2 2 2 2 2 2 0 0 0 0 2 2 2 1.99
RIL3 0 2 2 2 2 2 2 2 2 2 2 2 2.24
RIL4 0 0 0 0 0 0 2 2 2 2 2 2 1.94
RIL5 0 0 0 0 0 2 2 0 0 0 0 0 2.76
RIL6 0 0 0 2 2 2 2 2 2 2 2 2 2.32
RIL7 0 0 0 0 0 0 0 0 0 0 0 0 2.32
RIL8 2 2 0 2 2 0 0 0 0 2 2 2 2.08
RIL9 0 0 0 0 2 2 0 0 0 0 0 0 2.24
RIL10 0 0 0 0 2 2 0 0 0 0 0 0 2.45
Bi-parental mapping populations (linkage mapping)
Temporary population: F2 and BC Permanent population: RIL, DH, CSSL Secondary population
Association mapping Natural populations: human and animals
Single marker analysis (Sax 1923; Soller et al. 1976)
The single marker analysis identifies QTLs based on the difference between the mean phenotypes for different marker groups, but cannot separate the estimates of recombination fraction and QTL effect.
Interval mapping (IM) (Lander and Botstein 1989)
IM is based on maximum likelihood parameter estimation and provides a likelihood ratio test for QTL position and effect. The major disadvantage of IM is that the estimates of locations and effects of QTLs may be biased when QTLs are linked.
Regression interval mapping (RIM) (Haley and Knott 1992; Martinez and Curnow 1992 ) RIM was proposed to approximate maximum likelihood interval mapping to save computation time at one or multiple genomic positions.
Composite interval mapping (CIM) (Zeng 1994) CIM combines IM with multiple marker regression analysis, which controls the effects of QTLs on other intervals or chromosomes onto the QTL that is being tested, and thus increases the precision of QTL detection.
Multiple interval mapping (MIM) (Kao et al. 1999) MIM is a state-of-the-art gene mapping procedure. But implementation of the multiple-QTL model is difficult, since the number of QTL defines the dimension of the model which is also an unknown parameter of interest.
Bayesian model (Sillanpää and Corander 2002) In any Bayesian model, a prior distribution has to be considered. Based on the prior, Bayesian statistics derives the posterior, and then conduct inference based on the posterior distribution. However, Bayesian models have not been widely used in practice, partially due to the complexity of computation and the lack of user-friendly software.
A. QTL
mm MMMm
B. QTL
mm MMMm
Backcrosses (P1BC1 and P2BC1) of P1: MMQQ and P2: mmqq
BC1 BC2
Genotype Frequency Genotypic
value Genotype Frequency
Genotypic
value
MMQQ )1(21 r m+a MmQq )1(2
1 r m+d
MMQq r21 m+d Mmqq r2
1 m-a
MmQQ r21 m+a mmQq r2
1 m+d
MmQq )1(21 r m+d mmqq )1(2
1 r m-a
Two marker types:
Difference in phenotype between the two types
MMQqMMQQMM )1( rr
rdarmdmramr )1()())(1(
MmQqMmQQMm )1( rr
drramdmramr )1())(1()(
))(21(MmMM dar
Linear model (j=1 2 n )
b* represent QTL effect is the indicator variable (0 or 1) for QTL genotype
Likelihood profile
Support interval: One-LOD interval
*jx
jji exbby **0
P1: P2:
F1: P1:
1 4
Mi Q Mi +1
Mi Q Mi +1
mi q mi +1
mi q mi +1
Mi Q Mi +1 Mi Q Mi +1
Mi Q Mi +1
Mi Q Mi +1 Mi Q Mi +1 Mi Q Mi +1 Mi Q Mi +1
Mi Q Mi +1 Mi Q mi +1 mi q mi q mi +1
Mi Q Mi +1
Mi q mi +1
mi q Mi +1
Mi Q Mi +1
mi Q Mi +1
mi q mi +1
Assumption: No more than one QTL per chromosome or linkage group
Large confidence interval Biased effect estimation
Composite interval mapping (CIM) (Zeng 1994)
In the algorithm of CIM, both QTL effect at the current testing position and regression coefficients of the marker variables used to control genetic background were estimated simultaneously in an expectation and maximization (EM) algorithm.
Thus, this algorithm could not completely ensure that the effect of QTL at current testing interval was not absorbed by the background marker variables and therefore may result in biased estimation of the QTL effect.
Theoretical basis of ICIM
kjkjjk
m
jjj ggaagaG
1
1)|( jjjjj xxgE X
1111)|( kjkjkjkjkjkjkjkjkj xxxxxxxxggE X
ikj
ikijjk
m
jijji exxbxbby
1
10
Two-dimensional scanning (interval mapping)
One-dimensional scanning (interval mapping)
1,kkj
ijjii xbyy
1,1,1,,1,
kksjjr
isirrskkjjr
irrii xxbxbyy
0
10
20
30
40
11111111111222222222233333333334444444444
LOD
sco
re
Scanning posoition along the genome-2
-1.5-1
-0.50
0.51
1.52
11111111111222222222233333333334444444444Effe
ct
Scanning posoition along the genome
0
20
40
60
80
11111111111222222222233333333334444444444
LOD
sco
re
Scanning posoition along the genome-4-3-2-10123
11111111111222222222233333333334444444444Effe
ctScanning posoition along the genome
010203040506070
11111111111222222222233333333334444444444
LOD
sco
re
Scanning posoition along the genome-1.5
-1
-0.5
0
0.5
1
1.5
11111111111222222222233333333334444444444Effe
ct
Scanning posoition along the genome
Detecting epistasis where the interacting
significant additive effects
One-locus model in F2
One-locus model:
where is mean of the two homozygous genotypes QQ and qq, a is the additive effect, d is the dominance effect . w and v are the indicators for genotypes at the QTL, valued at 1 and 0 for QQ, 0 and 1 for Qq, and -1 and 0 for qq, respectively
dvawG
The expected genotypic value of an individual with known marker types
),,,|( ),,,|(),,,|(
2121
21212121
yyxxvEdyyxxwEayyxxGE
Left marker
Right marker
QQ (w=1, v=0) (m+a)
Qq (w=0, v=1) (m+d)
qq (w=-1, v=0) (m-a)
AA BB
AA Bb
AA bb
Probability of the three QTL genotypes under given marker types
22
214
1 )1()1( rr )1()1( 221121 rrrr 2
22
141 rr
)1()1( 222
121 rrr 2
211212
21121 )1()1)(1( rrrrrr )1( 22
212
1 rrr2
22
141 )1( rr )1()1( 22112
1 rrrr 22
214
1 )1( rr
Estimation of marker class mean
Marker class n Frequency
Indicator for marker
Genetic mean of the class
x1 x2 y1 y2
AABB n1 1 1 0 0 f1 g1
AABb n2 1 0 0 1 f2 g2
AAbb n3 1 -1 0 0 f3 g3
),,,|( 2121 yyxxwE ),,,|( 2121 yyxxvE
241 )1( r
)1(21 rr
241 r
121 )1/(21 frrr 12
2211 )1/()1()1(2 grrrrr
dgaf 11
dgaf 22
dgaf 33
22
221 )/()]1()21[( frrrrr 222
2211 )/()221)(1( grrrrrr
312 /)( frrr 32
2211 /)1()1(2 grrrrr
Relationship between marker class mean and marker effect
(including marker interactions)
12
12
12
12
2
1
2
1
11
22
33
44
5
44
33
22
11
)(
)()()()()(
)(
000100111001010011000100111010001101100011001010001101000100111001010011000100111
DDdDAAD
AAdDdDdAaAa
d
dgafdgafdgafdgaf
dgdgafdgafdgafdgaf d
dggggg
dggdgggdggg
affaf
dgg
DDdDAAD
AAdDdDdAaAa
d d
)(00
)()()(
)(
)(
)(
)()()()()(
)(
54321
2121
3121
321
2121
4321
121
3121
2
3121
12
12
12
12
2
1
2
1
Relationship between marker effects and QTL effects
The linear model of genotypic values on markers in F2
22112121 ),,,|( xxyyxxwE
21122112
22112121
),,,|(
yyxxyyyyxxvE
The linear model of genotypic values on markers in F2
21122112
222211112121
)()(
)()()()(),,,|(
yyDDdxxAAd
yDdxAayDdxAayyxxGE
Properties of the linear model in F2The additive and dominance effects of the flanked QTL are completely absorbed by the six variables in the model above. Interactions between marker variables may be declared as interaction between QTL by mistake when using ANOVA. But from our analysis, interactions between marker variables can be caused simply by dominance effects of QTL .
Multiple QTL model in F2 For multiple QTL, assume there are m QTL located on m intervals defined by m+1 markers on one chromosome, then the genotypic value of an F2 individual is defined as:
m
jjjjj vdwaG
1][
The linear model in F2 under multiple QTL
The genotypic value of an F2 individual with known marker types can be re-organized as:
m
jjjjj
m
jjjjj
m
jjj
m
jjj
yyxx
yxGE
111,
111,
1
1
1
1
)(
The linear model for QTL mapping in F2
m
jjjjj
m
jjjjj
m
jjj
m
jjj
yyxx
yxGEP
111,
111,
1
1
1
1
)(
Property of the linear model for QTL mapping in F2
ICIM (Inclusive Composite Interval Mapping) in F2
kjjiijjjjiijjj
kkjijjijjii
yyxx
yxPP
][
][
1,1,1,1,
1,
Hypothesis test of QTL mapping in F2
The two hypotheses used to test the existence of QTL at the scanning position are: vs.
The logarithm likelihood under HA is
where denotes individuals belonging to the marker class (j=1,
k=1, 2, 3) is the proportion of the QTL genotype in the class, and is the density function of the normal distribution .
3210 :Hequalnot are and , of least twoat : 311AH
9
1
3
1
2 ]),;(log[j Si k
kijkAj
PfL
jS thjjk
thkthj ),;( 2
kf),( 2
kN
Use EM algorithm to get the estimation of So the genetic effects in were therefore estimated by
EM algorithm of QTL mapping in F2
321 and ,
dvawG
)( 3121 )( 312
1a 2d
EM algorithm of QTL mapping in F2
Parameters under H0 were calculated as: From which the maximum likelihood under H0, and the LOD score between HA and H0 can be calculated.
n
iin P
1
10
n
iin P
1
20
120 )(
QTL distribution models in simulation
QTL distribution models in simulation
QTL distribution models in simulation
F2 populations were simulated by the genetics and breeding simulation tool of QuLine. QTL mapping using ICIM was implemented by the software QTL IciMapping.
Theoretical marker effects in the genetic model used in simulation
The expected additive, dominance, additive by additive, and dominance by dominance effects of the two flanking markers associated with each QTL is shown in the following table. It indicated that the dominance of a QTL could complicate the coefficients of the two markers flanking a QTL, and cause the interactions between markers.
The expected marker effects in simulation
QTL
Interaction variation (%)
QTL1 0.000 0.498 0.498 0.000 0.000 0.000 0.000 0.0
QTL2 0.253 0.000 0.000 0.248 0.248 -0.248 0.243 21.8
QTL3 0.253 0.498 0.498 0.248 0.248 -0.248 0.243 5.7
QTL4 -0.253 0.498 0.498 -0.248 -0.248 0.248 -0.243 5.7
QTL5 0.379 0.498 0.499 0.371 0.371 -0.371 0.364 9.6
QTL6 -0.379 0.498 0.498 -0.371 -0.371 0.371 -0.364 9.6
dd)( 1)( Aa1)( Dd2)( Aa 12)( AAd 12)( DDd2)( Dd
QTL mapping in simulated F2 populations
QTL LOD score
PVE (%)
True Position (cM)
Est. Position (cM)
True add. effect
Est. add. effect
True dom. effect
Est. dom. effect
QTL distribution model I QTL1 16.52 6.67 25 28 1 0.88 0 -0.11 QTL2 7.67 3.27 55 53 0 0.03 1 0.85 QTL3 25.11 11.28 25 24 1 0.86 1 1.08 QTL4 35.46 16.43 55 57 1 0.74 -1 -1.58 QTL5 37.12 16.74 25 26 1 1.05 1.5 1.38 QTL6 28.44 13.16 55 55 1 0.84 -1.5 -1.22
180 individuals The cross was made in Chengdu, China, in July 2002 between the indica rice variety and Nipponbare. 137 SSR markers. The whole genome was of 2046.2 cM, and the average marker distance was 17.1 cM. A number of agronomic traits were investigated in the field.
QTL mapping in the actual F2 population
QTL distributionTrait R2 of
additive (%)
R2 of additive and dominance (%)
Absolute degree of dominance (|d/a|) Total
<=0.25 (0.25, 0.75] (0.75, 1.25] >1.25 PH 25.84 51.56 2 1 1 5 9 HD 16.12 41.37 1 1 1 3 6 PL 25.58 61.26 5 3 1 8 17 FL 20.86 40.00 0 2 0 3 5 SPK 25.64 27.09 1 1 1 1 4 TKW 20.11 20.11 2 0 2 1 5 DP 19.45 24.87 1 1 0 1 3 GL 30.69 41.96 1 1 0 0 2 GW 26.63 26.63 2 2 0 0 4 RLW 37.63 45.70 1 3 1 1 6
Total 16 15 7 23 61
PVE distribution
02468
101214161820
Freq
uenc
y a
cros
s tra
its
Phenotypic variation explained(%)
Trait QTL Chr Distance to left marker
Add Dom LOD PVE(%)
Plant height (Ph)
QPh1-1 1 12 -0.57 -7.98 8.04 12.03 QPh1-2 1 19.5 -8.59 0.59 15.54 25.57 QPh3-1 3 16.9 4.35 -4.86 6.51 13.30 QPh3-2 3 11.4 -4.69 -1.00 5.04 6.84 QPh4 4 13.7 -3.56 -2.09 4.61 5.53 QPh5 5 13 -0.44 -4.48 3.13 3.86 QPh6 6 6.2 -0.79 -5.05 3.17 4.96 QPh7 7 7 0.26 6.48 5.27 7.56 QPh12 12 2.4 -1.66 3.93 3.98 5.44
Heading date (Hd)
QHd1 1 22.1 1.74 -0.30 3.65 7.27 QHd3 3 19.9 0.88 -3.70 6.04 21.09 QHd4 4 0.2 -0.77 1.85 3.58 5.24 QHd8 8 5.7 -1.41 -1.46 4.79 8.20 QHd10 10 0.3 -1.78 -0.80 4.85 7.21 QHd11 11 6.2 0.15 -3.03 5.71 11.70
Conclusions
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Six methods in BIP SMA: single marker analysis (Soller et al., 1976. Theor. Appl. Genet. 47: 35-39) IM-ADD: the conventional simple interval mapping (Lander and Botstein, 1989. Genetics 121: 185-199) ICIM-ADD: inclusive composite interval mapping of additive (and dominant) QTL (Li et al., 2007. Genetics 175: 361-374. Zhang et al., 2008. Genetics 180: 1177-1190) IM-EPI: interval mapping of digenic epistatic QTL ICIM-EPI: inclusive composite interval mapping of digenic epistatic QTL (Li et al., 2008. Theor. Appl. Genet. 116: 243-260) SGM: selective genotyping mapping (Lebowitz et al., 1987. Theor. Appl. Genet. 73: 556 562)
Interface of the BIP functionality
LOD profile of ICIM additive mapping (ICIM-ADD)
Figures of interacting QTL from ICIM epistatic mapping (ICIM-EPI)