Fig. 1
Location of the Alu insertion in exon 4 of NLPR7. a PCR amplification of genomic DNA from exon 4 followed by gel electrophoresis analysis revealed a second larger fragment by approximately 350-bp in patient 1590 and her father but not in her mother who carries a missense variant p.(Arg693Trp) in a heterozygous state. b A schematic of the region of exon 4 where the Alu Yb8 element is inserted between nucleotides c.1548 and c.1565 and results in a 18-bp duplication (blue box) at the site of the insertion. The red arrow indicates the 5′ to 3′ orientation of the inserted Alu Yb8 element that begins at genomic position g.106 and ends at g.419 in the poly (A) tract (poly (T) in the reverse complementary strand) of reference sequence AF15169.2. c Chromatograms showing the 5′ and 3′ junctions of the 18-bp duplication flanking the inserted Alu Yb8 element. d Long-range PCR amplification showing the amplification of an abnormal genomic DNA fragment of 7135-bp overlapping the deletion in patient 1566, her mother, and maternal grandmother, but not in three control subjects. The promoter region predicted by the “Eukaryotic Promoter Database” (http://epd.vital-it.ch/) is indicated above exon 1 and starts 499-bp upstream of exon 1 and ends 63-bp downstream of exon 1. “GM” stands for Grandmother. e. Schematic of the deletion that is mediated by recombination between two Alu Y elements and a microhomology of 23-bp shown in capital letters
