OMIA 002116-9685 : Coat colour, albinism, oculocutaneous, HPS5-related in Felis catus

In other species: three-spined stickleback

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 614074 (trait) , 607521 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific name: Pink-eye

Inheritance: Mériot et al. (2020): "Genealogical data indicated an autosomal recessive inheritance pattern."

Mapping: Mériot et al. (2020): "A single candidate region was identified by genome-wide association study and SNP-based homozygosity mapping. Within that region, we further identified HPS5 (HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2) as a strong candidate gene, since HPS5 variants have been identified in humans and animals with Hermansky-Pudlak syndrome 5 or oculocutaneous albinism."

Molecular basis: Mériot et al. (2020): "A homozygous c.2571-1G>A acceptor splice-site variant located in intron 16 of HPS5 was identified in pink-eye cats. Segregation of the variant was 100% consistent with the inheritance pattern. Genotyping of 170 cats from 19 breeds failed to identify a single carrier in non-Donskoy cats. The c.2571-1G>A variant leads to HPS5 exon-16 splicing that is predicted to produce a 52 amino acids in-frame deletion in the protein."

Clinical features: Mériot et al. (2020): "In the feline Donskoy breed, a phenotype that breeders call "pink-eye," with associated light-brown skin, yellow irises and red-eye effect, has been described."

Breed: Donskoy.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HPS5 Hermansky-Pudlak syndrome 5 Felis catus D1 NC_058377.1 (74280965..74220513) HPS5 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1423 Donskoy Pink-eye HPS5 splicing Naturally occurring variant Felis_catus_9.0 D1 g.76211236C>T c.2571-1G>A XM_006937131.3 2020 32558164

Reference


2020 Mériot, M., Hitte, C., Rimbault, M., Dufaure de Citres, C., Gache, V., Abitbol, M. :
Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene. Pigment Cell Melanoma Res 33:814-825, 2020. Pubmed reference: 32558164. DOI: 10.1111/pcmr.12906.

Edit History


  • Created by Frank Nicholas on 31 Jan 2022
  • Changed by Frank Nicholas on 31 Jan 2022