A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia.

Hadji Rasouliha, S; Bauer, Anina; Dettwiler, Martina Andrea; Welle, Monika Maria; Leeb, Tosso (2018). A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. Animal genetics, 49(6), pp. 651-654. Wiley 10.1111/age.12729

[img]
Preview
Text
Manuscript_Hadji_Rasouliha___EDA_R1_without_track_changes.pdf - Accepted Version
Available under License Publisher holds Copyright.

Download (326kB) | Preview
[img] Text
Rasouliha_et_al-2018-Animal_Genetics.pdf - Published Version
Restricted to registered users only
Available under License Publisher holds Copyright.

Download (657kB) | Request a copy

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disease characterized by hypoplasia or absence of hair, teeth and sweat glands. The EDA gene, located on the X chromosome, encodes the type II transmembrane protein ectodysplasin A. Variants in the EDA gene can lead to XLHED in humans, mice, cattle and dogs. In the present study, we investigated a litter of Dachshund puppies, of which four male puppies showed clinical signs of XLHED. We performed a candidate gene analysis in one affected puppy and several non-affected relatives. This analysis revealed a single base-pair deletion in the coding sequence of the EDA gene in the affected puppy (NM_001014770.2:c.842delT). The deletion is predicted to cause a frameshift, NP_001014770.1:p.(Leu281HisfsTer22), leading to a premature stop codon which truncates more than one quarter of the EDA protein. Sanger sequencing results confirmed that this variant was inherited from the dam. Based on knowledge about the functional impact of EDA variants in dogs and other species, c.842delT is a convincing candidate causative variant for the observed XLHED in the male puppies.

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; Dettwiler, Martina Andrea; Welle, Monika Maria 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:

Wiley

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

12 Nov 2018 09:57

Last Modified:

01 Jan 2020 02:30

Publisher DOI:

10.1111/age.12729

PubMed ID:

30276836

Uncontrolled Keywords:

Canis lupus familiaris XHED Sanger sequencing dermatology development dog ectodysplasin A skin

BORIS DOI:

10.7892/boris.121080

URI:

https://boris.unibe.ch/id/eprint/121080

Actions (login required)

Edit item Edit item
Provide Feedback