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

@article{Santschi2009EndothelinRB,
  title={Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses},
  author={Elizabeth M Santschi and Amanda K. Purdy and Stephanie J. Valberg and Paul D. Vrotsos and Heather J Kaese and James R. Mickelson},
  journal={Mammalian Genome},
  year={2009},
  volume={9},
  pages={306-309}
}
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… 
Familiar Hypopigmentation Syndrome in Sheep Associated with Homozygous Deletion of the Entire Endothelin Type-B Receptor Gene
TLDR
This is to the authors' knowledge the first description of an ENDRB gene deletion and associated clinical signs in a mammalian species different from humans and rodents.
Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses
TLDR
The results indicate that the dominant white color in Franches-Montagnes Horses is caused by a nonsense mutation in the KIT gene and that multiple independent mutations within this gene appear to be responsible for dominant white in several other modern horse populations.
Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases
TLDR
The syndrome Multiple Congenital Ocular Anomalies (MCOA) is the collective name ascribed to heritable congenital eye defects in horses and one haplotype common to four breeds showed complete association to the disease.
Endothelin receptor B (EDNRB) is not the causative gene of the English spotting locus in the domestic rabbit (Oryctolagus cuniculus).
TLDR
The protein encoded by POMC is a polypeptide hormone that is cleaved into several different products that are responsible for multiple biological and cellular functions including appetite, feeding behavior, and energy homeostasis.
Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation
TLDR
It is proposed that ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely lead to an absence of melanocytes in the non-pigmented body areas of Boer goats.
Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.
TLDR
Accurate estimates of disease-causing alleles in AQHs and APHs may guide use of diagnostic genetic testing, aid management of genetic diseases, and help minimize production of affected foals.
Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses
TLDR
Several independent mutations in MITF and PAX3 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes.
Coat colours and mitochondrial lineages of ancient horses to document domestication
TLDR
Although the melanophilin gene is responsible for dilution phenotypes in human, mice, and other domesticated species, the detected SNPs of this investigation revealed no facts showing that there is any obvious association with the dun phenotype.
...
...

References

SHOWING 1-10 OF 31 REFERENCES
Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color.
TLDR
It is concluded that EDNRB plays an essential role in the normal development of two neural crest-derived cell lineages, epidermal melanocytes and enteric neurons, in three mammalian species--humans, mice, and rats.
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.
TLDR
Observations indicate that dysfunction or loss of function of endothelin-B receptor may be involved in the aetiology of some isolated patients with HSCR.
Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.
TLDR
The discovery of the molecular defect underlying the sl rat phenotype should contribute to the understanding of the genetic heterogeneity of HSCR in man.
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
TLDR
A mutation of the human gene for endothelin 3 (EDN3), homozygously present in a patient with a combined Waardenburg syndrome type 2 and HSCR phenotype, is described and a novel mutation detected in one of 40 unselected H SCR patients is reported.
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.
TLDR
DNA samples from 17 probands of Italian origin with HSCR are analysed and two novel EDNRB mutations are identified, confirming the involvement ofEDNRB in HSCRs pathogenesis and demonstrating that EDNRBs mutations could contribute to HSCr disease in non-inbred populations.
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
TLDR
Heterozygous EDNRB missense mutations are reported in isolated HSCR, giving further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons and suggesting that EDNRBs could be dosage sensitive.
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
TLDR
A homozygous substitution/deletion mutation of the EDA/3 gene is reported in a WS-HSCR patient, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests.
A missense mutation in the gene for melanocyte-stimulating hormone receptor (MCIR) is associated with the chestnut coat color in horses
The melanocyte-stimulating hormone receptor gene (MCIR) is the major candidate gene for the chestnut coat color in horses since it is assumed to be controlled by an allele at the extension locus.
...
...