A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis.

Bauer, Anina; Nimmo, J; Newman, R; Brunner, Magdalena Anna Theresa; Welle, Monika Maria; Jagannathan, Vidhya; Leeb, Tosso (2018). A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Animal genetics, 49(2), pp. 137-140. Blackwell 10.1111/age.12643

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Hereditary nasal parakeratosis (HNPK), described in the Labrador Retriever breed, is a monogenic autosomal recessive disorder that causes crusts and fissures on the nasal planum of otherwise healthy dogs. Our group previously showed that this genodermatosis may be caused by a missense variant located in the SUV39H2 gene encoding a histone 3 lysine 9 methyltransferase, a chromatin modifying enzyme with a potential role in keratinocyte differentiation. In the present study, we investigated a litter of Greyhounds in which six out of eight puppies were affected with parakeratotic lesions restricted to the nasal planum. Clinically and histologically, the lesions were comparable to HNPK in Labrador Retrievers. 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. Genotyping of a larger cohort of Greyhounds revealed that the variant is segregating in the breed and that this breed might benefit from genetic testing to avoid carrier × carrier matings.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Bauer, Anina; Brunner, Magdalena Anna Theresa; Welle, Monika Maria; Jagannathan, Vidya and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

0268-9146

Publisher:

Blackwell

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

12 Apr 2018 10:42

Last Modified:

24 Oct 2019 23:49

Publisher DOI:

10.1111/age.12643

PubMed ID:

29423952

Uncontrolled Keywords:

Canis lupus familiaris chromatin differentiation dog epigenetics genodermatosis hereditary nasal parakeratosis keratinocyte skin whole genome sequencing

BORIS DOI:

10.7892/boris.111832

URI:

https://boris.unibe.ch/id/eprint/111832

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