Figure 2 | Genetics in Medicine

Figure 2

From: Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing

Figure 2

Schematic physical and genetic maps of the OSBPL2 gene (NC_000020.11, NM_144498.2, NP_653081.1, OMIM: 606731) and two heterozygous mutations found in the JSNY-028 family members and sporadic cases. (a) Schematic physical and genetic maps of OSBPL2, located in the 20q13.33 chromosomal region. (b) Structure of the OSBPL2 gene (14 exons). (c,d) Sequencing chromatograms of OSBPL2 showing two heterozygous mutations—c.153_154delCT (in exon 3, reverse sequencing) and c.583C>A (in exon 7, forward sequencing)—in affected individuals (bottom panel) as compared with those of normal controls (top panel). The mutated nucleotides are marked by red arrows. The predicted amino acid changes and surrounding amino acids are indicated above the sequences. (e) Alignment of OSBPL2, OSBP, and Osh3 protein sequences. OSBPL2 is composed of an FFAT motif (two phenylalanines in an acidic tract) and an OSBP-related domain with a highly conserved sequence motif, the “OSBP fingerprint,” EQVSHHPP. OSBP, oxysterol binding protein; OSBPL2, oxysterol binding protein-like 2; Osh3, oxysterol binding protein homolog 3.

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