Fas ligand mutations in the Pt 86, Pt 55C and the gld mouse. Sequencing of genomic DNA shows a heterozygous A530G mutation in Pt 86 and a A320G mutation in Pt55C depicted in panel (a) for double peaks of A and G from normal and mutant alleles amplified from genomic DNA. The family pedigree in panel (b) reveals the same mutation was found in his father, and paternal grandmother (labeled with m) but not in his healthy mother or two sisters. Black, the affected individual; gray, individuals with the mutation but not the full picture of ALPS. This mutation leads to an amino acid change of A156G, the heterozygous A320G mutation found in Pt 55C FasL genomic DNA leads to an amino acid change M86V in the transmembrane domain (TMD), and the gld mutation in mouse is shown at amino acid site 275, all compared to the wild type sequences at these sites in 5 species, as aligned in panel c.
Bi et al. BMC Medical Genetics 2007 8:41 doi:10.1186/1471-2350-8-41