Figure 4.

EMSAs of CTNS promoter region bearing mutations in patients 2 and 3. a, Results of double-stranded DNA probe consisting of nucleotides −327 to −300, radiolabeled with α[³²P]-dATP. Lane 1, No addition. Lane 2, NE added. Lane 3, NE and 100-fold excess nonradioactive probe added. Lane 4, NE and 300-fold excess nonradioactive probe added. Lane 5, NE and 600-fold excess nonradioactive probe added. Lane 6, NE and 600-fold excess nonradioactive probe consisting of nucleotides −327 to −300, containing the −303 G→T mutation in patient 2, added. Lane 7, NE and 600-fold excess nonradioactive probe consisting of nucleotides −327 to −300, containing the −303 T insertion in patient 3, added. Arrows indicate the locations of DNA-protein complexes that can be competed against by the normal but not by the mutant oligonucleotides. b, Results of double-stranded DNA probe consisting of nucleotides −327 to −300, containing the −303 G→T mutation in patient 2, radiolabeled with α[³²P]-dATP. Lane 1, No addition. Lane 2, NE added. Lane 3, NE and 600-fold excess nonradioactive mutant probe added. c, Results of double-stranded DNA probe consisting of nucleotides −327 to −300, containing the T insertion after position −303 in patient 3, radiolabeled with α[³²P]-dATP. Lane 1, No addition. Lane 2, NE added. Lane 3, NE and 600-fold excess nonradioactive mutant probe added.