A genetic, pathological and virological study of congenital hypotrichosis and incisor anodontia in cattle

Kuiper²,

Peters³

et al. 2002

Veterinary Dermatology

Hypotrichosis, an almost complete lack of teeth and the complete absence of eccrine nasolabial glands, was observed among the progeny of a normal cow of the black and white German Holstein breed. Similar congenital anomalies are known in humans and mice as X-linked anhidrotic ectodermal dysplasia (ED1), leading to the impaired formation of hair, teeth and sweat glands. The pedigree of the four affected male calves in the investigated cattle family indicated that the described phenotype is inherited as a monogenic X-linked recessive trait. We used a diagnostic reverse transcription-polymerase chain reaction (RT-PCR) assay to study the heredity of a previously reported causative large genomic deletion in the bovine ED1 gene. This test allowed the unequivocal classification of disease carriers that were phenotypically normal. As the clinical, pathological and genetic findings in human ED1 show striking similarities to the described phenotype in cattle, this bovine disorder may serve as an animal model for human ED1.

Section: Discussionmentioning

confidence: 77%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Congenital hypotrichosis with anodontia in cattle: A genetic, clinical and histological analysis

Kuiper²,

Peters³

et al. 2002

Veterinary Dermatology

“…A rare bovine X-linked ectodermal dysplasia phenotype (MIA000543 [21]) shows striking similarities to the human X-linked ED1 phenotype. This congenital X-linked hypotrichosis with missing teeth in cattle appears in clinically slightly variable forms with graded severity of tooth and hair defects in different breeds [2,4,23,29]. Other reported forms of hypotrichosis in cattle are phenotypically less similar to these cases.…”

Section: Phenotypementioning

confidence: 96%

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Distl²,

Leeb³

2003

Genet Sel Evol

-Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle. Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal anhidrotic ectodermal dysplasia (ED1) in these species. Mutations in the ectodysplasin 1 (ED1) gene are responsible for X-linked anhidrotic ectodermal dysplasia. The ED1 gene encodes a signaling molecule of the tumor necrosis factor family that is involved in development of ectodermal appendages. The bovine disorder may serve as an animal model for human ED1. PhenotypeClinical geneticists have recorded over 100 evidently distinct human syndromes named ectodermal dysplasia (ED) that affect the development of sweat glands, hair, teeth and nails, together or in different combinations [22]. The embryonic development of all these structures is the result of interactions between the epithelium and mesenchyme. The most common form of ED in man, the anhidrotic (hypohidrotic) ectodermal dysplasia (ED1, also called EDA, HED or Christ-Siemens-Touraine syndrome) is characterized by heat intolerance with excessively dry skin due to the absence of sweat glands, and abnormal spiky or absent teeth. Affected individuals have sparse hair on the scalp and body, whereas facial and pubic hair are unaffected. Recently, the genes for the X-linked ED1 (MIM305100 [14,22]) and two indistinguishable, autosomally inherited types of ED (MIM604095; MIM606603 [12,13,22]) were cloned.

“…Cattle with X-linked anhidrotic ectodermal dysplasia (ED1 also called EDA or XLHED) are characterized by hypotrichosis, a reduced number of sweat glands, and tooth abnormalities such as missing incisors and missing or defective molars (Wijeratne et al 1988;Drögemüller et al 2000a;MIA000543). Anhidrotic ectodermal dysplasia is also known in human (MIM305100) and mouse.…”

mentioning

confidence: 99%

Partial Deletion of the Bovine ED1 Gene Causes Anhidrotic Ectodermal Dysplasia in Cattle

Distl²,

Leeb³

2001

Genome Res.

Anhidrotic ectodermal dysplasia (ED1) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle. In affected humans and mice, mutations in the ED1 gene coding for ectodysplasin 1 are found. Ectodysplasin 1 is a novel trimeric transmembrane protein with an extracellular TNF-like signaling domain that is believed to be involved in the formation of hair follicles and tooth buds during fetal development. We report the construction of a 480-kb BAC contig harboring the complete bovine ED1 gene on BTA Xq22–Xq24. Physical mapping and sequence analysis of the coding parts of theED1 gene revealed that a large genomic region including exon 3 of the ED1 gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.[The sequence data described in this paper have been submitted to the EMBL nucleotide database under accession nos. AJ300468, AJ300469, and AJ278907.]