Page 65 - PCC08

Summary: Monosomy 15 Blastocysts
100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0%
SNRPN
Chr 15
H19
Chr 11
KCNQ1OT1
Chr 11
MONOSOMY 15:
Chr 15: All Monosomy 15 blastocysts had either ~0% or ~100% methylation at SNRPN, suggesting the origin for chromosome 15 loss can arise from either maternal oocyte or paternal sperm.
Chr 11: Diploid chromosome; H19 and KCNQ1OT1 unaffected at 50% methylation.
Denomme et al, 2016
Results: Monosomy 11 Blastocysts – H19
MAT = maternal / oocyte contribution
PAT = paternal / sperm contribution
ICR
Page 59 of 102
H19
Loss of MAT
Human 11p15.5
~0% MAT OR Methylation Loss of PAT
PAT ~100% Methylation
M1129 SNP T: 4%
M1146 SNP A: 88%
M1123 SNP T: 82%
M1131 SNP A: 87%
M1127 SNP T: 84%
M1144 SNP T: 0%
M1125 SNP A: 84%
M1137 SNP A: 6%
M1128 SNP T: 89%
M1145 SNP A: 73%
M1130 SNP T: 84%
M1147 SNP T: 74%
M1151 SNP T: 90%
M1152 SNP T: 73%
M1153 SNP A: 5%
M1154 SNP T: 80%
Denomme et al, 2016
PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 65
Percent Methylation