Supplementary Tables S1-S4
Table S1. Previously reported imprinted genes in the human placenta.
No. Gene
Location
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.
23.
24.
25.
26.
27.
28.
29.
30.
31.
32.
33.
34.
35.
1p31
1p32
1p36
2q33.3
3q27
4q31.3
5q15
5q22.2
5q35
6p25.2
6q21
6q21
6q24
6q24.2
6q26
6q26-q27
7q21
7q21
7q21.3
7q21.3
7q31.3
7q21-q22 AS
7q32
7q32.2
8q24.22
8q24.22
9p24
10p12.31
10q22.1
10q22.2
11p13
11p13
11p15.5
11p15.5
11p15.5
DIRAS3
EPS15
TP73
GPR1AS
MCCC1
SFRP2
RHOBTB3
APC
SNCB
FAM50B
LIN28B
AIM1
PLAGL1
PHACTR2
SLC22A2
SLC22A3
MAGI2
PEG10
PPP1R9A
TFPI2
LEP
SGCE
MESTIT1
MEST
ZFAT
ZFAT-AS1
GLIS3
ARMC3
AIFM2
CTNNA3
CD44
WT1
CDKN1C
H19
IGF2
Expressed
allele
Paternal
Maternal
Maternal
Paternal
Paternal
Maternal
Paternal
Paternal
Paternal
Paternal
Paternal
Paternal
Paternal
Maternal
Maternal
Maternal
Paternal
Paternal
Maternal
Maternal
Maternal
Paternal
Paternal
Paternal
Paternal
Paternal
Paternal
Paternal
Paternal
Maternal
Maternal
Maternal
Maternal
Maternal
Paternal
1
References
1
2, 3
2-4
5
1
6
1
6
1
1, 7
8
9
2-4, 10
11
12
12
8
3, 4, 13
14, 15
15
1
16
14
3, 4, 14, 17, 18
8
8
8
1
1
19, 20
2, 3
21, 22
12
3, 4, 23, 24
3, 4, 17, 24
36.
37.
38.
39.
40.
41.
42.
43.
44.
45.
46.
47.
48.
49.
50.
51.
52.
53.
54.
55.
56.
KCNQ1OT1
PHLDA2
SLC22A18
ANO1
ZC3H12C
NTM
ST8SIA1
WIF1
DLK1
MEG3
RTL1
SNRPN
ZNF597
DNMT1
PEG3
MIR371A
NLRP2
ZNF331
GNAS
MOV10L1
ARHGAP4
11p15.5
11p15.5
11p15.5
11q13.3
11q22
11q25
12p12.1-p11.2
12q14.3
14q32
14q32
14q32.2
15q11.2
16p13
19p13.2 AS
19q13.4
19q13.42
19q13.42
19q13.42
20q13.3
22q13.33
Xq28
Paternal
Maternal
Maternal
Maternal
Paternal
Maternal
Paternal
Paternal
Paternal
Maternal
Paternal
Paternal
Maternal
Paternal
Paternal
Paternal
Maternal
Maternal
Maternal
Maternal
Maternal
12, 25
2, 3, 12, 17, 26, 27
2, 3, 12
28
8
8
1
6
3, 4
2-4
29
2, 3
8
1, 9
3, 4
30
31
11
1
1
1
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4
Table S2. Numbers of SNPs with specific properties in different trios.
Family
trio
P001
P002
P005
P006
P007
P008
P009
P012
P013
P014
Homo
Phased
Hetero
Mutant
Indel
Missing
231862
231826
232043
213532
232329
231754
231717
231927
226902
229265
8212
8339
8040
7090
7999
8294
8224
8006
7669
8319
1934
1769
1887
1784
1732
1861
2029
2095
1908
1942
14
14
18
18
10
14
14
14
18
11
135
136
135
125
135
135
136
136
131
135
744
817
778
20352
696
843
781
723
6273
3229
Homo – number of homozygous SNPs in a child (i.e., uninformative SNPs for our analysis);
Phased – number of heterozygous SNPs of the child with at least one parent being a homozygote
(i.e., possible to detect the parental origin of the child’s alleles. These SNPs were suitable for
further analyses); Hetero – number of SNPs where mother, father and child are all heterozygotes
for a particular SNP (i.e., impossible to detect the inheritance of the SNP); Mutant – number of
inconsistent SNPs between the child and the parents; Indel – number of insertions and deletions;
and Missing – number of SNPs where the microarray showed a missing value for mother, father
or child (e.g., due to a technical problem, most likely low-quality DNA).
5
Table S3. Selected genomic intervals and primer sequences for validation.
Gene
Chr
Start and end
positions
Informative
SNPs
Forward primer
Reverse primer
Product
size (bp)
PEG10
chr 7
94296769 94296793
rs13073
rs13226637
TGCCTGACATGAAGAGGAGT
GAGCCTCTCATTCACAGCAT
283
RHOBTB3
chr 5
95131292 95131757
rs6815
rs7622
rs3184188
CATGAGCATATTCGCACCCC
GTTTAGCTGTCTTGGAAGTCA
763
RHOBTB3
chr 5
95129056 95129251
rs6697
rs12351
TCTTCTGACCGAAACCAATGTG
CCAAATGGCCGGCAAATTTC
413
RHOBTB3
chr 5
95091194 95091201
rs34898
rs34899
GCTGAAGCGTCACATTATAACTC ATGGCTAGCACCTGGAAATG
255
PAPPA2
chr 1
176811754 176811918
rs12137448
rs12137517
GCAGTAAGAAAGAGAGGCCG
CAAGTTGGGTGGGACTGAGT
330
PAPPA2
chr 1
176659790 176660247
rs726252
TGGTCATTTGTGTCGGAGAG
CAAACAAGCCCCCAAAACT
726
Chr – chromosome.
6
Table S4. Demographic and clinical data of parents and children.
Family
trio
Maternal
age (year)
P001
P002
22
27
Maternal prePaternal
pregnancy
age (year)
BMI (kg/m2)
25
20
29
20
Parity
Gestational age Mode of
(weeks+days) delivery
Newborn
gender
0
1
39+0
39+3
Male
Female
Apgar score
1 min/5 min
after birth
9/10
8/9
P005
26
27
24
0
40+4
Male
P006
P007
P008
P009
P012
P013
P014
29
24
24
41
25
23
26
27
31
26
46
27
33
35
25
24
17
35
19
20
17
1
0
0
1
0
0
1
38+1
40+6
40+5
41+0
42+0
40+2
41+1
Male
Male
Female
Male
Female
Male
Female
VD
Elective CS
Emergency
CS
VD
VD
VD
VD
VD
VD
VD
3188
3628
484
575
8/9
3540
360
9/10
9/9
9/10
9/9
9/9
8/9
8/8
3750
3836
3746
4150
3128
3394
3936
552
384
408
524
369
321
472
BMI – body mass index. Parity – number of previous births. VD – vaginal delivery. CS – caesarean section.
7
Birth
Placental
weight (g) weight (g)