Document Detail


Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.
MedLine Citation:
PMID:  9530628     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Overo lethal white syndrome (OLWS) is an inherited syndrome of foals born to American Paint Horse parents of the overo coat-pattern lineage. Affected foals are totally or almost totally white and die within days from complications due to intestinal aganglionosis. Related conditions occur in humans and rodents in which mutations in the endothelin receptor B (EDNRB) gene are responsible. EDNRB is known to be involved in the developmental regulation of neural crest cells that become enteric ganglia and melanocytes. In this report we identify a polymorphism in the equine EDNRB gene closely associated with OLWS. This Ile to Lys substitution at codon 118 is located within the first transmembrane domain of this seven-transmembrane domain G-protein-coupled receptor protein. All 22 OLWS-affected foals examined were homozygous for the Lys118 EDNRB allele, while all available parents of affected foals were heterozygous. All but one of the parents also had an overo white body-spot phenotype. Solid-colored control horses of other breeds were homozygous for the Ile118 EDNRB allele. Molecular definition of the basis for OLWS in Paint Horses provides a genetic test for the presence of the Lys118 EDNRB allele and adds to our understanding of the basis for coat color patterns in the horse.
Authors:
E M Santschi; A K Purdy; S J Valberg; P D Vrotsos; H Kaese; J R Mickelson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Mammalian genome : official journal of the International Mammalian Genome Society     Volume:  9     ISSN:  0938-8990     ISO Abbreviation:  Mamm. Genome     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-05-22     Completed Date:  1998-05-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9100916     Medline TA:  Mamm Genome     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  306-9     Citation Subset:  IM    
Affiliation:
Department of Clinical and Population Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul 55108, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AF038900
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Animals
Base Sequence
DNA, Complementary
Genes, Lethal*
Genotype
Horse Diseases / genetics*
Horses
Molecular Sequence Data
Polymorphism, Genetic*
Receptor, Endothelin B
Receptors, Endothelin / genetics*
Sequence Homology, Amino Acid
Chemical
Reg. No./Substance:
0/DNA, Complementary; 0/Receptor, Endothelin B; 0/Receptors, Endothelin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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