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. Author manuscript; available in PMC: 2013 Jul 1.
Published in final edited form as: Hum Mutat. 2012 May 11;33(7):1063–1066. doi: 10.1002/humu.22097

Figure 2.

Figure 2

The insertion changes expression of a reporter gene and creates predicted transcription factor binding sites. A. Chromatogram of the ZRS603ins13 (NG_009240.1:g.106934_106935ins13) insertion mutation. Sequencing a cloned allele of the ZRS from patient III/1 shows an insertion of 13 bp compared to the wildtype sequence represented by the sequence from an unaffected sibling (III/2). B. ZRS E11.5 mouse transgenic assay of human wtZRS showing posterior LacZ expression . C. ZRS E11.5 mouse transgenic assay of ZRS603ins13 showing strong posterior and ectopic anterior LacZ expression. D. The 13bp insertion, in bold, creates binding sites for multiple limb-associated transcription factors. Grey bars indicate the location of the TFBS.