A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_B9CC7B1AD0C8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.
Journal
Genes
Author(s)
Reinartz S., Weiß C., Heppelmann M., Hewicker-Trautwein M., Hellige M., Willen L., Feige K., Schneider P., Distl O.
ISSN
2073-4425 (Electronic)
ISSN-L
2073-4425
Publication state
Published
Issued date
20/12/2023
Peer-reviewed
Oui
Volume
15
Number
1
Pages
8
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical and histopathological signs consistent with an X-linked recessive HAD (XHED). Whole genome and Sanger sequencing of cDNA showed a perfect association of the missense mutation g.85716041G>A (ss2019497443, rs1114816375) within the EDA gene with all three cases following an X-linked recessive inheritance, but normal EDAR and EDARADD. This mutation causes an exchange of glycine (G) with arginine (R) at amino acid position 227 (p.227G>R) in the second collagen triple helix repeat domain of EDA. The EDA variant was associated with a significant reduction and underdevelopment of hair follicles along with a reduced outgrowth of hairs, a complete loss of seromucous nasolabial and mucous tracheal and bronchial glands and a malformation of and reduction in number of teeth. Thermostability of EDA G227R was reduced, consistent with a relatively mild hair and tooth phenotype. However, incisors and canines were more severely affected in one of the calves, which correlated with the presence of a homozygous missense mutation of RNF111 (g.51306765T>G), a putative candidate gene possibly associated with tooth number in EDA-deficient Fleckvieh calves.
Keywords
Humans, Dogs, Cattle, Male, Animals, Mice, Ectodermal Dysplasia 1, Anhidrotic/genetics, Mutation, Missense, Ectodermal Dysplasia/genetics, Mutation, Hypotrichosis, Limb Deformities, Congenital, Fleckvieh, collagen triple helix repeat domain, ectodysplasin A, missense mutation
Pubmed
Open Access
Yes
Create date
29/01/2024 16:03
Last modification date
30/01/2024 8:31
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