Figure 2 | Scientific Reports

Figure 2

From: LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

Figure 2

Whole genome sequencing (WGS) shows a maternally inherited L1 insertion in the 5′UTR of the AR. (A) Integrative Genomics Viewer (IGV) screenshot showing the hemizygous insertion in the patient, inherited from the heterozygous mother, in the AR 5′UTR. The insertion site is indicated by an arrow. (B) Truncated L1 element in our patient as compared to a full-length L1 element. Individual L1 domains are also depicted in the figure, along with the insertion location in the AR 5′UTR.

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