OMIA 000543-9913 : Anhidrotic ectodermal dysplasia, EDA-related in Bos taurus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 305100

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2001

Species-specific name: Congenital hypotrichosis and anodontia defect; Ectodermal dysplasia; X-linked hypohidrotic ectodermal dysplasia

Species-specific symbol: HAD; HED; XLHED

Species-specific description: Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].

Mapping: Xq22

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Drögemüller et al. (2001) demonstrated that this bovine disorder is due to a large deletion including exon 3 in the gene for ectodysplasin (ED1; now called EDA), in black-and-white German Holstein cattle.

The following year, a different mutation was discovered in red-and-white German Holstein cattle: "a single G >T transversion was located at the second position of intron 8 (IVS8 +2T>G). The mutation changed the canonical GT dinucleotide at the beginning of the 5′ splice site sequence into GG" (Drögemüller et al., 2002).

Ogino et al. (2011) reported yet another EDA mutation: "a 19 bp deletion in exon 1 in male Holstein calves".

Yet another mutation was reported by Karlskov-Mortensen et al. (2011) in Danish Red Holstein cattle, namely "a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2".

A fifth mutation was reported by Ogino et al. (2012), this time in Japanese Black cattle: "an insertion of 4 bp at nucleotide 280 (c.280_281insAGGG) in exon 1. This insertion is predicted to result in a frameshift beginning with amino acid residue 94, with a termination codon occurring at position 143 (p.Gly94GlufsX49), compared to the normal bovine ectodysplasin A protein sequence of 391 amino acids".

Breeds: Holstein, Japanese Black.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EDA ectodysplasin A Bos taurus X NC_037357.1 (80803322..80405885) EDA Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Holstein Anhidrotic ectodermal dysplasia EDA deletion, small (<=20) "a 19 bp deletion in exon 1" 2011 21410470
Japanese Black Anhidrotic ectodermal dysplasia EDA insertion, small (<=20) c.280_281insAGGG 2012 22497423
Danish Holstein Anhidrotic ectodermal dysplasia EDA insertion, gross (>20) UMD3.1 13 g.64234645_64255988del6576ins8 c.1-21344del6576ins8402 "a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2" 2011 22034998 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
German Holstein Anhidrotic ectodermal dysplasia EDA splicing UMD3.1 X g.85710147G>T c.924+2G>T IVS8 +2T>G 2002 12021844 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446
German Holstein Anhidrotic ectodermal dysplasia EDA deletion, gross (>20) UMD3.1 X g.85821470 c.397_502de a large deletion including exon 3 in the gene for ectodysplasin (ED1; now called EDA) 2001 11591646 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2012 Ogino, A., Shimizu, K., Tanabe, Y., Morita, M. :
De novo mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Japanese Black cattle. Anim Genet 43:646, 2012. Pubmed reference: 22497423. DOI: 10.1111/j.1365-2052.2011.02290.x.
2011 Karlskov-Mortensen, P., Cirera, S., Nielsen, O.L., Arnbjerg, J., Reibel, J., Fredholm, M., Agerholm, J.S. :
Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. Anim Genet 42:578-584, 2011. Pubmed reference: 22034998. DOI: 10.1111/j.1365-2052.2011.02192.x.
Ogino, A., Kohama, N., Ishikawa, S., Tomita, K., Nonaka, S., Shimizu, K., Tanabe, Y., Okawa, H., Morita, M. :
A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle. Hereditas 148:46-9, 2011. Pubmed reference: 21410470. DOI: 10.1111/j.1601-5223.2010.02202.x.
2007 Barlund, C.S., Clark, E.G., Leeb, T., Drögemüller, C., Palmer, C.W. :
Congenital hypotrichosis and partial anodontia in a crossbred beef calf. Can Vet J 48:612-4, 2007. Pubmed reference: 17616058.
2006 Drogemuller C., Barlund C.S., Palmer C.W., Leeb T. :
A novel mutation in the bovine EDA gene causing anhidrotic ectodermal dysplasia (Brief report) Archiv fur Tierzucht 49:615-616, 2006.
2005 Seeliger, F., Drogemuller, C., Tegtmeier, P., Baumgartner, W., Distl, O., Leeb, T. :
Ectodysplasin-1 deficiency in a German Holstein bull associated with loss of respiratory mucous glands and chronic rhinotracheitis. J Comp Pathol 132:346-9, 2005. Pubmed reference: 15893993. DOI: 10.1016/j.jcpa.2004.11.001.
2003 Drogemuller, C., Distl, O., Leeb, T. :
X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle Genetics Selection Evolution 35:S137-45, 2003. Pubmed reference: 12927086. DOI: 10.1051/gse:2003022.
2002 Drogemuller, C., Kuiper, H., Peters, M., Guionaud, S., Distl, O., Leeb, T. :
Congenital hypotrichosis with anodontia in cattle: a genetic, clinical and histological analysis. Vet Dermatol 13:307-13, 2002. Pubmed reference: 12464063.
Drogemuller, C., Peters, M., Pohlenz, J., Distl, O., Leeb, T. :
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. J Mol Med 80:319-23, 2002. Pubmed reference: 12021844. DOI: 10.1007/s00109-002-0320-z.
2001 Drogemuller, C., Distl, O., Leeb, T. :
Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle Genome Research 11:1699-1705, 2001. Pubmed reference: 11591646. DOI: 10.1101/gr.182501.
Kuiper, H., Kutschke, L., Drogemuller, C., Leeb, T., Distl, O. :
Assignment of the bovine ectodysplasin A gene (ED1) to bovine Xq22 -> q24 by fluorescence in situ hybridization Cytogenetics & Cell Genetics 92:356-357, 2001.
2000 Distl, O., Drogemuller, C., Kuiper, H., Kutschke, L., Hermanns, W., Kehler, W., Scholz, H. :
Genetic studies of congenital hypotrichosis with anodontia in German Holstein calves [German] Tierarztliche Umschau 55:72-+, 2000.
Distl, O., Drogemuller, C., Kuiper, H., Kutschke, L., Kehler, W., Scholz, H. :
Congenital hypotrichosis with anodontia in cattle [German] Praktische Tierarzt 81:496-+, 2000.
Drogemuller, C., Neander, S., Klippert, H., Kuiper, H., Kutschke, L., Guionaud, S., Ueberschar, S., Scholz, H., Distl, O. :
Genetic analysis of congenital hypotrichosis with anodontia in cattle [German] Archiv fur Tierzucht-Archives of Animal Breeding 43:213-222, 2000.
1988 Braun, U., Ansari, H.A., Hediger, R., Süss, U., Ehrensperger, F. :
[Hypotrichosis and oligodontia, combined with an Xq-deletion, in a calf of the Swiss Holstein breed]. Tierarztl Prax 16:39-44, 1988. Pubmed reference: 3368908.
Wijeratne, W.V.S., O'Toole, D., Wood, L., Harkness, J.W. :
A genetic, pathological and virological study of congenital hypotrichosis and incisor anodontia in cattle Veterinary Record 122:149-152, 1988. Pubmed reference: 2836985.
1971 Selmanowitz, V.J. :
Ectodermal dysplasia in cattle : Analogues in man British Journal of Dermatology 84:258-265, 1971. Pubmed reference: 4929446.

Edit History


  • Created by Frank Nicholas on 22 Mar 2011
  • Changed by Frank Nicholas on 17 Sep 2011
  • Changed by Frank Nicholas on 06 Dec 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 14 Jun 2012
  • Changed by Frank Nicholas on 18 Sep 2012
  • Changed by Frank Nicholas on 08 Aug 2017