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Results: Monosomy 11 Blastocysts – KCNQ1OT1
MAT = maternal / oocyte contribution
PAT = paternal / sperm contribution
ICR
KCNQ1OT1
~100% MAT OR Methylation Loss of PAT
Loss of MAT
Human 11p15.5
PAT ~0% Methylation
M1122 SNP G: 4%
M1131 SNP G: 2%
M1147 SNP G: 33%
M1123 SNP G: 4%
M1132 SNP G: 49%
M1143 SNP G: 45%
M1150 SNP G: 4%
M1127 SNP G: 5%
M1134 SNP G: 35%
M1144 SNP G: 55%
M1152 SNP G: 5%
M1128 SNP G: 4%
M1145 SNP G: 5%
M1153 SNP G: 56%
M1130 SNP G: 3%
M1135 SNP G: 61%
M1137 SNP G: 84%
M1138 SNP G: 1%
M1146 SNP G: 2%
M1154
SNP G: 8%
Deno
mme et al, 2016
Summary: Monosomy 11 Blastocysts
100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0%
MONOSOMY 11:
SNRPN
Chr 15
H19
Chr 11
KCNQ1OT1
Chr 11
Chr 11: All Monosomy 11 blastocysts had either ~0% or ~100% methylation at H19 suggesting the origin for chromosome 11 loss can arise from either maternal oocyte or paternal sperm.
At KCNQ1OT1, 13/20 (65%) had either ~0% or 100% methylation, while 7/20 (35%) had ~50% methylation, which more closely resembled diploid imprinting levels.
Chr 15: Diploid chromosome; SNRPN unaffected at 50% methylation. Denomme et al, 2016
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Percent Methylation