A novel mutation in the bovine EDA gene causing anhidrotic ectodermal dysplasia (Brief report)

Archiv fur Tierzucht

Volumn 49, Issue 6, 2006, Pages 615-616

  Drögemüller, Cord ^a   Barlund, Christy S ^b   Palmer, Colin W ^b   Leeb, Tosso ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b UNIVERSITY OF SASKATCHEWAN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BOS TAURUS;

EID: 33845565756     PISSN: 00039438     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. CASAL, M.L.; SCHEIDT, J.L.; RHODES, J.L.; HENTHORN, P.S.; WERNER, P.: Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm. Genome 16 (2005), 524-531
2. DRÖGEMÜLLER, C.; DISTL, O.; LEEB T.: Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. Genome Res. 11 (2001), 1699-1705
3. DRÖGEMÜLLER, 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 (2002), 319-23
4. KERE, J.; SRIVASTAVA, A.K.; MONTONEN, O.; ZONANA, J.; THOMAS, N.; FERGUSON, B.; MUNOZ, F.; MORGAN, D.; CLARKE, A.; BAYBAYAN, P.; CHEN, E.Y.; EZER, S.; SAARIALHO-KERE, U.; DE LA CHAPELLE, A.; SCHLESSINGER, D.: X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat. Genet. 13 (1996), 409-416
5. SCHNEIDER, P.; STREET, S.L.; GAIDE, O.; HERTIG, S.; TARDIVEL, A.; TSCHOPP, J.; RUNKEL, L.; ALEVIZOPOULOS, K.; FERGUSON, B.M.; ZONANA, J.: Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J. Biol. Chem. 276 (2001), 18819-18827
6. SRIVASTAVA, A.K.; PISPA, J.; HARTUNG, A.J.; DU, Y.; EZER, S.; JENKS, T.; SHIMADA, T.; PEKKANEN, M.; MIKKOLA, M.L.; KO, M.S.H.; THESLEFF, I.; KERE, J.; SCHLESSINGER, D.: The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc. Natl. Acad. Sci. U. S. A. 94 (1997), 13069-13074
7. VINCENT, M.C.; BIANCALANA, V.; GINISTY, D.; MANDEL, J.L.; CALVAS, P.: Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur. J. Hum. Genet. 9 (2001), 355-363