Show simple item record Wijesena, Hiruni R. Schmutz, Sheila M. 2015-02-03T23:12:20Z 2015-02-03T23:12:20Z 2015-03-19
dc.identifier doi:10.5061/dryad.53kh1
dc.identifier.citation Wijesena HR, Schmutz SM (2015) A missense mutation in SLC45A2 is associated with albinism in several small long haired dog breeds. Journal of Heredity 106(3): 285-288.
dc.description Homozygosity for a large deletion in the solute carrier family 45, member 2 (SLC45A2) gene causes oculocutaneous albinism (OCA) in the Doberman Pinscher breed. An albino Lhasa Apso did not have this g.27141_31223del (CanFam2) deletion in her SLC45A2 sequence. Therefore, SLC45A2 was investigated in this female Lhasa Apso to search for other possible variants that caused her albinism. The albino Lhasa Apso was homozygous for a nonsynonymous substitution in the seventh exon, a c.1478G>A base change that resulted in a glycine to aspartic acid substitution (p.G493D). This mutation was not found in a wolf, a coyote, or any of the 15 other Lhasa Apso dogs or 32 other dogs of breeds related to the Lhasa Apso. However, an albino Pekingese, 2 albino Pomeranians, and an albino mixed breed dog that was small and long haired were also homozygous for the 493D allele. The colored puppies of the albino Lhasa Apso and the colored dam of the 2 albino Pomeranians were heterozygous for this allele. However, an albino Pug was homozygous for the 493G allele and therefore although we suggest the 493D allele causes albinism when homozygous in several small, long haired dog breeds, it does not explain all albinism in dogs. A variant effect prediction for the albino Lhasa Apso confirms that p.G493D is a deleterious substitution, and a topology prediction for SLC45A2 suggests that the 11th transmembrane domain where the 493rd amino acid was located, has an altered structure.
dc.relation.haspart doi:10.5061/dryad.53kh1/1
dc.relation.haspart doi:10.5061/dryad.53kh1/2
dc.relation.haspart doi:10.5061/dryad.53kh1/3
dc.relation.isreferencedby doi:10.1093/jhered/esv008
dc.relation.isreferencedby PMID:25790827
dc.subject Oculocutaneous Albinism
dc.subject albino
dc.subject Lhasa Apso
dc.subject Pekingese
dc.subject Pomeranian
dc.subject Pug Subject area: Gene action
dc.subject regulation and transmission
dc.title Data from: A missense mutation in SLC45A2 is associated with albinism in several small long haired dog breeds
dc.type Article
prism.publicationName Journal of Heredity
dryad.dansTransferDate 2018-04-25T02:06:05.158+0000
dryad.dansArchiveDate 2018-04-25T17:57:27.646+0000

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Title SLC45A2 genotypes and phenotypes of albino and control drogs
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Description Two missense mutations were observed in an albino dog: P250L in exon 3 and G493D in exon 7 of SLC45A2. The genotypes of all the tested albino and control dogs for these two mutations and their coat colours are included in the file.
Download SLC45A2 SNP Summery JOH-2014-205.R1.xlsx (53.18 Kb)
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Title Supplemental Table 1:Primers, annealing temperatures and the fragment of the SLC45A2 gene amplified.
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Download Supplemental Table 1-JOH-2014-205.R1.docx (89.65 Kb)
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Title Supplemental Figure 1-A topology prediction comparison for SLC45A2
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Description A topology prediction comparison for SLC45A2 was carried out using TMHMM (v. 2.0; TMHMM-2.0/). a) The topology prediction for a cream Poodle. b) The topology prediction for an albino Lhasa Apso. The boxed regions indicate the eleventh transmembrane domain of SLC45A2 where the amino acid 493 is located. Comparison of the two panels clearly shows that the eleventh transmembrane domain of the albino Lhasa Apso has an altered structure.
Download Supplemental Figure 1-JOH-2014-205.R1.jpg (849.6 Kb)
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