OMIA 001373-9615 : Nasal parakeratosis in Canis lupus familiaris
Bauer et al. (2018): "Whole genome sequencing of one affected Greyhound revealed a 4-bp deletion at the 5′-end of intron 4 of the SUV39H2 gene that was absent in 188 control dog and three wolf genomes. The variant was predicted to disrupt the 5′-splice site with subsequent loss of SUV39H2 function. The six affected puppies were homozygous for the variant, whereas the two non-affected littermates were heterozygous."Clinical features: As summarised by Jagannathan et al. (2013), "HNPK affected dogs develop crusts and fissuring of the nasal planum at a young age but are otherwise healthy. The pathognomonic histopathological changes consist of a marked diffuse parakeratotic hyperkeratosis characterized by the retention of nuclei in the stratum corneum and an accumulation of proteinaceous fluid (“serum lakes”) within the stratum corneum". Breeds: Greyhound, Labrador Retriever. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SUV39H2||suppressor of variegation 3-9 homolog 2 (Drosophila)||Canis lupus familiaris||2||NC_006584.3 (21749732..21715677)||SUV39H2||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Greyhound||Nasal parakeratosis||SUV39H2||deletion, small (<=20)||CanFam 3.1||2||g.21731812_21731815delACTT||c.996+3_996+6delAAGT||2018||29423952|
|Labrador Retriever||Nasal parakeratosis||SUV39H2||missense||CanFam3.1||2||g.21731842A>C||c.972T>G||p.N324K||2013||24098150|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2018||Bauer, A., Nimmo, J., Newman, R., Brunner, M., Welle, M.M., Jagannathan, V., Leeb, T. :|
|A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Anim Genet 49:137-140, 2018. Pubmed reference: 29423952. DOI: 10.1111/age.12643.|
|2013||Jagannathan, V., Bannoehr, J., Plattet, P., Hauswirth, R., Drögemüller, C., Drögemüller, M., Wiener, D.J., Doherr, M., Owczarek-Lipska, M., Galichet, A., Welle, M.M., Tengvall, K., Bergvall, K., Lohi, H., Rüfenacht, S., Linek, M., Paradis, M., Müller, E.J., Roosje, P., Leeb, T. :|
|A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS Genet 9:e1003848, 2013. Pubmed reference: 24098150. DOI: 10.1371/journal.pgen.1003848.|
|2003||Page, N., Paradis, M., Lapointe, J.M., Dunstan, R.W. :|
|Hereditary nasal parakeratosis in Labrador Retrievers Veterinary Dermatology 14:103-10, 2003. Pubmed reference: 12662268.|
|Peters, J., Scott, D.W., Erb, H.N., Miller, W.H. :|
|Hereditary nasal parakeratosis in Labrador retrievers: 11 new cases and a retrospective study on the presence of accumulations of serum ('serum lakes') in the epidermis of parakeratotic dermatoses and inflamed nasal plana of dogs Veterinary Dermatology 14:197-203, 2003. Pubmed reference: 12895224.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 13 Oct 2013
- Changed by Frank Nicholas on 15 Feb 2018