Exclusion of EDNRB and KIT as the basis for white spotting in Border Collies.docVIP

/2000/1/2/research/0004.1 Research Exclusion ofEDNRB andKIT as the basis for white spotting in Border Collies Danika Metallinos* and Jasper Rine? Addresses: *Veterinary Medical Teaching Hospital, University of California, Davis, California 95616, USA. ?Department of Molecular and Cell Biology, University of California, Berkeley, California 94720, USA. Correspondence: Danika Metallinos. E-mail: dlmetallinos@ Published: 28 July 2000 Received: 9 May 2000 Revised: 16 June 2000 Accepted: 22 June 2000 GenomeBiology 2000, 1(2):research0004.1–0004.4 The electronic version of this article is the complete one and can be found online at /2000/1/2/research/0004 ? GenomeB (Print ISSN 1465-6906; Online ISSN 1465-6914) Abstract Background: White spotting patterns in mammals can be caused by mutations in the genes for the endothelin B receptor and c-Kit, whose protein products are necessary for proper migration, differentiation or survival of the melanoblast population of cells. Although there are many different dog breeds that segregate white spotting patterns, no genes have been identified that are linked to these phenotypes. Results: An intercross was generated from a female Newfoundland and a male Border Collie and the white spotting phenotypes of the intercross progeny were evaluated by measuring percentage surface area of white in the puppies. The Border Collie markings segregated as a simple autosomal recessive (7/25 intercross progeny had the phenotype). Two candidate genes, for the endothelin B receptor (EDNRB) and c-Kit (KIT), were evaluated for segregation with the white spotting pattern. Polymorphisms between the Border Collie and Newfoundland were identified for EDNRB using Southern analysis after a portion of the canine gene had been cloned. Polymorphisms for KIT were identified using a microsatellite developed from a bacterial artificial chromosome containing the canine gene. Conclusions: Both EDNRB and KIT were excluded