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. 2022 Jun 3;219(7):e20211682. doi: 10.1084/jem.20211682

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© 2022 Fournier et al.

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Figure 2. — Identification in the patient of a private homozygous mutation in TNFSF9. (A) Family pedigree with DNA electropherograms and the TNFSF9 c.419T>G genotype of each individual. The proband is indicated by an arrow. The brother affected by an EBV⁻ B cell lymphoma corresponds to the gray square. (B) Schematic representation of TNFSF9 intron–exon organization (intron and coding regions in light and dark gray boxes, respectively, and non-coding exon sequences in dashed boxes) and protein structure (extracellular [EC], transmembrane [TM], and intracytoplasmic [IC] domains) above. The mutation is indicated in red. (C) Ribbon representation of the 3D structure model of human CD137L/4-1BBL (Protein Data Bank accession no. 6D3N). The position of the mutated amino acid is framed by a red square, at the start of the C β-strand. The V140 is known to be directly involved in the CD137L trimerization. (D) Alignment of the human TNFSF9 sequence with that of TNFSF members, whose mutations are involved in human diseases (TNFS11/RANKL, CD40L, CD70/TNFSF7, FASLG/TNFSF6, and EDA). The position 140 of the mutated amino acid is framed by a red square. Alignments were generated using ClustalW software. "*" indicates a position that has a single, fully conserved residue; ":" indcates a position with a conserved residue and residues with strongly similar properties; "." indicates a position with a conserved residue and residues with weakly similar properties. (E) Alignment of the human TNFSF9 sequence with several other species. The position 140 of the mutated amino acid is framed by a red square. Alignments were generated using ClustalW. Observed secondary structures (β-strands) as previously described (Izawa et al., 2017) are shown above the sequences. (F) Relative mRNA CD137L expression levels from real-time PCR in control LCLs (Ctr.), in LCLs of the patient (Pat.), and in HEK cells ectopically expressing WT CD137L, CD137L^V140G or not (empty vector). Levels of TNFSF9/CD137 were normalized to GAPDH. Levels relative to the mean of control or CD137L^V140G quadruplet values corresponding to 1. Two control LCLs tested.