Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2017 Sep 13;7:11466. doi: 10.1038/s41598-017-11523-3

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Identification of a de novo mutation causing recessive anhidrotic ectodermal dysplasia (AED) before the emergence of this defect in the population. (a) One-month old control calf. (b) One-month old AED affected calf showing generalized hypotrichosis. (c) Hoof of the same AED calf with no notable malformations. Note that in humans most AED patients have normal nails too. (d) Detail of the head of a five-month-old AED calf, showing eyelashes and normal development of horns. (e) Muzzle of the same calf showing normal vibrissae and extreme skin dryness due to the absence of nasolabial glands (see also Supplementary Fig. 19). (f) X-ray of the skull of a one-month old calf showing a complete absence of incisors and the presence of only one upper molar on each side. (g,h) Detail of one upper molar showing abnormal cusps and deep grooves. (i,j) Histological sections of skin biopsies from control (i) and AED (j) one-month-old calves. In AED animals, the epidermis (ep) is acanthotic (i.e. thickened). The number of hair follicles is greatly reduced and deep portions of them are atrophic or absent. Sweat glands (sw) are absent. Sebaceous glands (se) appear normal but a number of them are “orphan” (i.e. without associated hair follicle). Scale bars represent 500 µm. (k) Yearly estimation of the number of calves predicted to be born homozygous for the g.44462236_44462237insC mutation on chromosome 11 which is predicted to cause a frameshift and premature truncation of EDAR. The total numbers of calves with both parents related to primo-mutant bull Invincible, as well as their coefficient of inbreeding (COI) are also presented. (l) Electrophoregrams of a homozygous (Ins/Ins) AED affected calf, a homozygous wild-type (Wt/Wt) animal and a heterozygous carrier of the mutation (Wt/Ins).