Fig. 1: Homozygous mutations in the FCHO1 gene segregate with patients’ lymphopenia. | Nature Communications

Fig. 1: Homozygous mutations in the FCHO1 gene segregate with patients’ lymphopenia.

From: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Fig. 1: Homozygous mutations in the FCHO1 gene segregate with patients’ lymphopenia.

a Pedigrees of seven unrelated families show ancestral segregation of mutations in the FCHO1 locus. Generations are assigned by Roman numerals from I to III. Index cases are marked with an arrow, small circles and squares denote spontaneous abortions and crossed symbols deceased individuals. mut, mutation; wt, wild-type. b Sanger sequencing chromatograms indicating homozygous mutation c.2036 G > C in index cases of kindred A, c.100 G > C in kindred B and c.2023insG in kindred C and D. Families C and D are not connected by kinship. A–D, index cases; M' mother; F, father; S, sister; B, brother. Additional kindred analyses are exhibited in Supplementary Figs. 2 and 3. c Schematic representation of FCHO1 protein indicating two main domains and localisation of family-associated mutations. d, e Computed crystal structures with indicated point mutations in μHD domain (d) and F-BAR domain (e).

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