SOAT1 missense variant in two cats with sebaceous gland dysplasia.

Kiener, Sarah; McMahill, Barbara G; Affolter, Verena K; Welle, Monika; Yager, Julie A; Jagannathan, Vidhya; Leeb, Tosso (2023). SOAT1 missense variant in two cats with sebaceous gland dysplasia. Molecular genetics and genomics : MGG, 298(4), pp. 837-843. Springer 10.1007/s00438-023-02020-6

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Spontaneously arisen hereditary diseases in domestic animals provide an excellent opportunity to study the physiological functions of the altered genes. We investigated two 4-month-old sibling domestic short haired kittens with dry dark debris around the eyes, nose, and ears, dark crusting on the legs and a thin poor hair coat. Skin biopsies revealed abnormal sebaceous gland morphology with lack of normal sebocyte arrangement and differentiation. Hair follicles had a distorted silhouette, interpreted as a change secondary to the observed sebaceous gland dysplasia. Whole genome sequencing on both affected kittens and 65 genetically diverse feline genomes was performed. Filtering for variants that were present in both kittens but absent from the control genomes revealed a homozygous missense variant in SOAT1, encoding sterol O-acyltransferase 1. The protein is localized in the endoplasmic reticulum and catalyzes the formation of cholesteryl esters, an essential component of sebum and meibum. The identified SOAT1:c.1531G > A variant is predicted to change a highly conserved glycine residue within the last transmembrane domain of SOAT1, p.Gly511Arg. In mice, variants in Soat1 or complete knockout of the gene lead to the "hair interior defect" (hid) or abnormal Meibomian glands, respectively. SOAT1:c.1531G > A represents a plausible candidate variant for the observed sebaceous gland dysplasia in both kittens of this study. The variant was not present in 10 additional cats with a similar clinical and histopathological phenotype suggesting genetic heterogeneity. SOAT1 variants should be considered as potential cause in hereditary sebaceous gland dysplasias of humans and domestic animals.

Item Type:

Journal Article (Original Article)

Division/Institute:

09 Interdisciplinary Units > Next Generation Sequencing (NGS) Platform
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:

Kiener, Sarah, Welle, Monika Maria, Jagannathan, Vidya, Leeb, Tosso

Subjects:

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

ISSN:

1617-4615

Publisher:

Springer

Language:

English

Submitter:

Pubmed Import

Date Deposited:

17 Apr 2023 10:50

Last Modified:

04 Jun 2023 02:25

Publisher DOI:

10.1007/s00438-023-02020-6

PubMed ID:

37060467

Uncontrolled Keywords:

Animal model Cat Dermatology Felis catus Genodermatosis Precision medicine Veterinary medicine

BORIS DOI:

10.48350/181756

URI:

https://boris.unibe.ch/id/eprint/181756

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