Figure 2
From: PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss
DNA sequence and protein structure of the PSIP1 gene.
(a) DNA chromatograms of all the family members. Affected patients (III:1, II:1, II:3, II:4) show the c.1554_1555del mutation at the heterozygous state, while healthy members (II:2, II:5) are wild type. (b) Schematic representation of the structure of the two protein isoforms of PSP1, p75 and p52. p75 is encoded by exons 1–15 and contains 530 amino acids, while the alternatively spliced p52 is encoded by exons 1–9 and contains 333 amino acids. The two isoforms share a region of 325 amino acids. In blue the PWWP ___domain, a region with conserved P-W-W-P residues; in purple low complexity regions; and in green a coiled-coil region. The mutation (c.1554_1555del, p.E518Dfs*2) affects only the second isoform and alters the reading frame downstream of codon 518 causing an ammino acid substitution in position 518 (p.E518D) and a premature stop codon (PTC) (p.T519X) with truncation of the last 12 amino acids.
