Fig. 1

Comparative sequence and functional analysis of human accelerated enhancer hs1210. A The BE-HAE-hs1210 is located within the intron of MEIS1 gene on chromosome 2. The alignment illustrates the Homo sapiens-specific substitution in the non-coding HAR. The red line indicates the position of the BE-HAE-hs1210 within the intron of MEIS1 gene. The red rectangle within the alignment highlights the SOX2 binding motif, and the red highlighted nucleotides are the core motif of SOX2. Conserved nucleotides are depicted as dots. B BE-HAE-hs1210 induced LacZ expression in transgenic mouse embryo at day E11.5. Whole mount embryo at E11.5 depict LacZ expression in the mouse forebrain (black arrow-head). Cross section of mouse embryonic forebrain revealed the BE-HAE-hs1210 enhancer activity in the sub-pallial region (LGE, lateral ganglionic eminence) (black arrow-head). Whole mount and cross section data of mouse is obtained from [19]. C Electrophoretic mobility shift assay (EMSA) or Gel shift assay shows shift in the mobility of SOX2 protein-DNA complexes as compared to the free probes (Homo sapien and archaic hominin). Binding of SOX2 protein hinders the mobility of DNA probe (shifted bands) and addition of antibody to SOX2 bound DNA probe further reduced the mobility of complex in the gel (super shifted bands). Full size uncropped version of Fig. 1C is provided as Additional file 3