Literature DB >> 11178229

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

D Metallinos1, J Rine.   

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 as a cause of the white spotting pattern in at least two of the intercross progeny. Although these genes have been implicated in white spotting in other mammals, including horses, pigs, cows, mice and rats, they do not appear to be responsible for the white spotting pattern found in the Border Collie breed of dog.

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Year:  2000        PMID: 11178229      PMCID: PMC15016          DOI: 10.1186/gb-2000-1-2-research0004

Source DB:  PubMed          Journal:  Genome Biol        ISSN: 1474-7596            Impact factor:   13.583


  10 in total

1.  A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease.

Authors:  G C Yang; D Croaker; A L Zhang; P Manglick; T Cartmill; D Cass
Journal:  Hum Mol Genet       Date:  1998-06       Impact factor: 6.150

2.  A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease.

Authors:  D L Metallinos; A T Bowling; J Rine
Journal:  Mamm Genome       Date:  1998-06       Impact factor: 2.957

3.  Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor.

Authors:  M Johansson Moller; R Chaudhary; E Hellmén; B Höyheim; B Chowdhary; L Andersson
Journal:  Mamm Genome       Date:  1996-11       Impact factor: 2.957

4.  Comparison of horse chromosome 3 with donkey and human chromosomes by cross-species painting and heterologous FISH mapping.

Authors:  T Raudsepp; J Kijas; S Godard; G Guérin; L Andersson; B P Chowdhary
Journal:  Mamm Genome       Date:  1999-03       Impact factor: 2.957

5.  Expression of stem cell factor receptor (c-kit) by the malignant mast cells from spontaneous canine mast cell tumours.

Authors:  C A London; W C Kisseberth; S J Galli; E N Geissler; S C Helfand
Journal:  J Comp Pathol       Date:  1996-11       Impact factor: 1.311

6.  Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.

Authors:  E M Santschi; A K Purdy; S J Valberg; P D Vrotsos; H Kaese; J R Mickelson
Journal:  Mamm Genome       Date:  1998-04       Impact factor: 2.957

7.  Melanocortin 1 receptor variation in the domestic dog.

Authors:  J M Newton; A L Wilkie; L He; S A Jordan; D L Metallinos; N G Holmes; I J Jackson; G S Barsh
Journal:  Mamm Genome       Date:  2000-01       Impact factor: 2.957

8.  A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

Authors:  E G Puffenberger; K Hosoda; S S Washington; K Nakao; D deWit; M Yanagisawa; A Chakravart
Journal:  Cell       Date:  1994-12-30       Impact factor: 41.582

9.  Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice.

Authors:  K Hosoda; R E Hammer; J A Richardson; A G Baynash; J C Cheung; A Giaid; M Yanagisawa
Journal:  Cell       Date:  1994-12-30       Impact factor: 41.582

10.  Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

Authors:  K Ezoe; S A Holmes; L Ho; C P Bennett; J L Bolognia; L Brueton; J Burn; R Falabella; E M Gatto; N Ishii
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

  10 in total
  4 in total

Review 1.  The Genetics of Deafness in Domestic Animals.

Authors:  George M Strain
Journal:  Front Vet Sci       Date:  2015-09-08

2.  STRING data mining of GWAS data in canine hereditary pigment-associated deafness.

Authors:  Maria Kelly-Smith; George M Strain
Journal:  Vet Anim Sci       Date:  2020-05-12

3.  A genome-wide association study of deafness in three canine breeds.

Authors:  Jessica J Hayward; Maria Kelly-Smith; Adam R Boyko; Louise Burmeister; Luisa De Risio; Cathryn Mellersh; Julia Freeman; George M Strain
Journal:  PLoS One       Date:  2020-05-15       Impact factor: 3.240

4.  A Missense Mutation in the KLF7 Gene Is a Potential Candidate Variant for Congenital Deafness in Australian Stumpy Tail Cattle Dogs.

Authors:  Fangzheng Xu; Shuwen Shan; Susan Sommerlad; Jennifer M Seddon; Bertram Brenig
Journal:  Genes (Basel)       Date:  2021-03-24       Impact factor: 4.096

  4 in total

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