Extended Data Fig. 7: Complete data of the F258 family.
From: Heritable transcriptional defects from aberrations of nuclear architecture
Data are for the family shown in Fig. 2b. (a) Haplotype-specific chromosomal transcriptional ratios showing non-disomic transcription of Chr.5 (magenta) and Chr.13 (green). The first two cells are the MN daughters; the second two are MN nieces. Regional transcription data of Chr.5 and Chr.13 are shown in (b) and (c). (b) The segregation pattern, expected transcriptional yield, and observed transcriptional levels of Chr.5 in all four cells. The presence of monosomic expression in both nieces and disomic/biallelic expression in both MN daughters indicate a 1:3 segregation of Chr.5. As the two MN daughters both display close to disomic transcription but one or both of them have reincorporated the Chr.5 copy from the micronucleus, we conclude that the reincorporated Chr.5 is not actively transcribed. (c) The segregation pattern, expected transcriptional yield, and observed transcriptional data of Chr.13 in all four cells. In contrast to the pattern of Chr.5, the two nieces both display disomic/biallelic expression, and one MN daughter displays monosomic expression; this pattern establishes a 2:2 segregation of Chr.13. The presence of transcripts phased to the MN haplotype (filled green circles in the bottom cell) indicates transcription of the reincorporated Chr.13 in the bottom cell. We note that there is more regional transcription variation in Chr.13 than in Chr.5 that is partially due to the lower gene density on Chr.13.
