A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds

The Journal of Heredity
Hiruni R Wijesena, Sheila M Schmutz

Abstract

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 f...Continue Reading

References

Dec 22, 1999·Mammalian Genome : Official Journal of the International Mammalian Genome Society·J M NewtonG S Barsh
Aug 2, 2000·Mammalian Genome : Official Journal of the International Mammalian Genome Society·B AignerG Brem
Nov 9, 2001·The Journal of Biological Chemistry·Jinyan Du, David E Fisher
Feb 28, 2003·Genetics, Selection, Evolution : GSE·Denis MariatGérard Guérin
Jan 17, 2004·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Sheila M SchmutzMerete Fredholm
May 25, 2004·Science·Heidi G ParkerLeonid Kruglyak
Dec 28, 2004·Journal of Dermatological Science·Vincent J Hearing
Dec 8, 2006·Genetics·Ulrika GunnarssonLeif Andersson
May 9, 2007·The Journal of Heredity·Sheila M Schmutz, Tom G Berryere
Dec 7, 2007·Animal Genetics·S M Schmutz, T G Berryere
Mar 20, 2013·Molecular Aspects of Medicine·Olga Vitavska, Helmut Wieczorek
May 28, 2013·Current Biology : CB·Xiao XuShu-Jin Luo
Jun 1, 2013·BMC Genomics·Javier Prado-MartinezTomas Marques-Bonet

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Citations

Feb 15, 2019·Annual Review of Animal Biosciences·Shu-Jin LuoXiao Xu
Jun 27, 2019·Acta Veterinaria Hungarica·Zsófia PellesPetra Zenke
Sep 24, 2020·Molecular Biology of the Cell·Linh LeMichael S Marks
Nov 10, 2021·Animal Genetics·L BrancalionC M Wade

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