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. 2011 Jun 27;6(6):e21452. doi: 10.1371/journal.pone.0021452

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Downs et al.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.

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A) Human (Homo sapien) SLC4A3. B) Canine (Canis familiaris) SLC4A3 as predicted by Ensembl genebuild. Sixteen of the genebuild exons predicted are identical to the human exons (black). Exons 1, 4, 5 and 7 (grey) have differences in 5′ and/or 3′ exon-intron boundaries. Exon 6 (grey) shows no sequence similarity to its human equivalent and is probably incorrect. C) Canine SLC4A3 exons confirmed by sequencing the retinal transcript. Exons 1, C1 and the correct exon 7 have not been predicted by Ensembl genebuild. The locations of the five fully-segregating sequence variants (in two PRA cases, two obligate carriers and four normal samples) are indicated, but only two are exonic and nonsynonymous. One of these is in the first exon of the cardiac isoform only (c: A44C) while the other is found in both the cardiac (c: 1981_1982insC) and full-length (fl: 2601_2602insC) isoforms of SLC4A3.