EMSAs of CTNS promoter region bearing −295 G→C mutation in patient 1. a, Results of double-stranded–DNA probe consisting of nucleotides −308 to −279, 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 30-fold-molar excess nonspecific (calf thymus) DNA added. b, Results of double-stranded–DNA probe consisting of nucleotides −308 to −279, containing the −295 G→C mutation in patient 1, radiolabeled with α[32P]-dATP. Lane 1, No addition. Lane 2, NE added. c, Results of Sp-1 oligonucleotide probe radiolabeled with γ[32P]-ATP. Lane 1, No addition. Lane 2, NE added. Lane 3, NE and 100-fold excess nonradioactive Sp-1 oligonucleotide added. Lane 4, NE and 100-fold excess nonradioactive probe consisting of nucleotides −308 to −279 added. Lane 5, NE and 100-fold excess nonradioactive probe consisting of nucleotides −308 to −279, with the −295 G→C mutation in patient 1, added. d, Results of double-stranded–DNA probe consisting of nucleotides −308 to −279, radiolabeled with α[32P]-dATP. Lane 1, No addition. Lane 2, Authentic Sp-1 peptide added. Lane 3, Sp-1 peptide and nonradioactive probe consisting of nucleotides −308 to −279 added. Lane 4, Sp-1 peptide and 30-fold-molar excess nonspecific (calf thymus) DNA added.