Commitment to X Inactivation Precedes the Twinning Event in Monochorionic MZ Twins Joanita Monteiro, Catherine Derom, Robert Vlietinck, Nina Kohn, Martin.

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Commitment to X Inactivation Precedes the Twinning Event in Monochorionic MZ Twins Joanita Monteiro, Catherine Derom, Robert Vlietinck, Nina Kohn, Martin Lesser, Peter K. Gregersen The American Journal of Human Genetics Volume 63, Issue 2, Pages 339-346 (August 1998) DOI: 10.1086/301978 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Schematic map of a portion of the first exon of the AR gene. The polymorphic CAG triplet repeat is flanked by HpaII sites, and the locations of primers AR-1 and AR-2, used for the PCR assay, are indicated. The American Journal of Human Genetics 1998 63, 339-346DOI: (10.1086/301978) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Degree of skewing of X inactivation in peripheral blood and buccal mucosa of female singletons, and comparison with that in cord/peripheral blood of DC-MZ twins and with that in buccal mucosa of MC-MZ and DC-MZ twins. Degree of skewing of X inactivation in peripheral blood and buccal mucosa of female singletons was found to be in the range of 2.2%–42.8% and 2.9%–27%, respectively. The degree of skewing of X inactivation was in the range of 0.02%–43.9% in cord/peripheral blood of DC-MZ and was 3.3%–40.1% and 0.6%–46.5% in buccal mucosa of MC-MZ and DC-MZ twins, respectively. Degree of skewing of X inactivation was calculated as the absolute difference between the percentage of inactivation of the upper AR allele and 50%. The mean values of the degree of skewing of X inactivation are indicated for each group of observations. The American Journal of Human Genetics 1998 63, 339-346DOI: (10.1086/301978) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Comparison of X-inactivation patterns, in buccal mucosa (BM), among members of MC-MZ twins and DC-MZ twins. A, MC-MZ twins 2644-1 and 2644-2, who show similar patterns of X inactivation in buccal mucosa. The percentage of inactivation of the upper AR allele was 50% in buccal mucosa of twin 2644-1 and was 64% in that of twin 2644-2. B, DC-MZ twins 4365-1 and 4365-2, who show discordant patterns of X inactivation in buccal mucosa. The percentage of inactivation of the upper AR allele was 32% in buccal mucosa of twin 4365-1 and was 78% in that of twin 4365-2. M = mock-digested DNA; and H = HpaII-digested DNA. All assays were performed in duplicate, as shown. The American Journal of Human Genetics 1998 63, 339-346DOI: (10.1086/301978) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Absolute difference of X-inactivation patterns in buccal mucosa of MC-MZ and DC-MZ twin pairs, and comparison of repeat PCRs in buccal mucosa and peripheral blood from singletons, recorded at two times. The American Journal of Human Genetics 1998 63, 339-346DOI: (10.1086/301978) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 5 Simulation of MZ twinning, with respect to commitment to X inactivation. We simulated MZ twinning in 10 embryos 500 times, at one round of replication before commitment to X inactivation, at the time of commitment to X inactivation, and as many as six rounds of replication after X inactivation. For this simulation, we assumed that X inactivation occurs when there are 16 cells in the ICM. SEMs are indicated by the thinner horizontal bars. The American Journal of Human Genetics 1998 63, 339-346DOI: (10.1086/301978) Copyright © 1998 The American Society of Human Genetics Terms and Conditions