Figure 2 | Scientific Reports

Figure 2

From: TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Figure 2

Skewed X-chromosome inactivation in carrier females. (A) Fragment length analysis on DNA confirmed biallelic expression of microsatellites (androgen receptor [AR] and retinitis pigmentosa 2 [RP2]) in all females. (B) DNA from carrier females digested with the methylation-sensitive HpaII restriction enzyme showed monoallelic detection, indicating completely skewed X-chromosome inactivation. (C) Sanger sequencing of DNA confirmed heterozygosity for the disease-causing variant in carrier females and wild-type sequence for non-carrier females. (D) Sequencing of reversed transcribed RNA showed the expression of only wild-type allele in all carrier females and non-carrier females.

Back to article page