A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.

Bauer, Anina Estrella; Hiemesch, Theresa; Jagannathan, Vidhya; Neuditschko, Markus; Bachmann, Iris; Rieder, Stefan; Mikko, Sofia; Penedo, M Cecilia; Tarasova, Nadja; Vitková, Martina; Sirtori, Nicolò; Roccabianca, Paola; Leeb, Tosso; Welle, Monika Maria (2017). A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome. G3 Genes Genomes Genetics, 7(4), pp. 1315-1321. Genetics Society of America 10.1534/g3.117.039511

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Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses had almost no hair and showed a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 years of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosomal recessive trait. We mapped the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome. Whole genome sequencing of two affected horses, two obligate carriers, and 75 control horses from other breeds revealed a single non-synonymous genetic variant on the chromosome 7 segment that was perfectly associated with NFS. The affected horses were homozygous for ST14:c.388G>T, a nonsense variant that truncates more than 80% of the open reading frame of the ST14 gene (p.Glu130*). The variant leads to partial nonsense mediated decay of the mutant transcript. Genetic variants in the ST14 gene are responsible for autosomal recessive congenital ichthyosis 11 in humans. Thus, the identified equine ST14:c.388G>T variant is an excellent candidate causative variant for NFS and the affected horses represent a large animal model for a known human genodermatosis. Our findings will enable genetic testing to avoid the non-intentional breeding of NFS affected foals.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
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 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 Estrella; Hiemesch, Theresa; Jagannathan, Vidya; Leeb, Tosso and Welle, Monika Maria

Subjects:

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

ISSN:

2160-1836

Publisher:

Genetics Society of America

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

14 Aug 2017 14:50

Last Modified:

14 Aug 2017 14:50

Publisher DOI:

10.1534/g3.117.039511

PubMed ID:

28235824

Uncontrolled Keywords:

Equus caballus; dermatology; genodermatosis; hair; skin; whole genome sequencing

BORIS DOI:

10.7892/boris.96470

URI:

https://boris.unibe.ch/id/eprint/96470

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