Ectodysplasin-1 deficiency in a German Holstein bull associated with loss of respiratory mucous glands and chronic rhinotracheitis.
A 2-year-old German Holstein bull was identified as a carrier of a mutation within the X-chromosomal ED1 gene, which encodes a TNF-related signalling molecule mainly involved in ectodermal development. The clinicopathological appearance was associated with hypotrichosis, hypodontia, and a reduced number of eccrine glands, in addition to chronic rhinotracheitis and partial squamous metaplasia. Furthermore, for the first time in an ED1-deficient animal, a complete lack of respiratory mucous glands was observed. This suggests that the ED1 gene plays a role in the development of mucous glands, the absence of which resembles a feature of X-linked anhidrotic ectodermal dysplasia (ED1) in human patients.
Seeliger
F
F
Departments of Pathology, School of Veterinary Medicine, Bünteweg 17p, 30559 Hannover, Germany.
Drögemüller
C
C
Tegtmeier
P
P
Baumgärtner
W
W
Distl
O
O
Leeb
T
T
D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D053331:Ectodysplasins; D037901:Euthanasia, Animal; D040181:Genetic Diseases, X-Linked / Q000378:metabolism / Q000473:pathology / Q000662:veterinary*; D020397:Goblet Cells / Q000378:metabolism / Q000473:pathology*; D007124:Immunoenzyme Techniques / Q000379:methods / Q000662:veterinary; D007241:Infectious Bovine Rhinotracheitis / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods / Q000662:veterinary; D014960:X Chromosome
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins