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

Santschi, Elizabeth M.; Purdy, Amanda K.; Valberg, Stephanie J.; Vrotsos, Paul D.; Kaese, Heather J.; Mickelson, James R.

doi:10.1007/s003359900754

Cited by 133 publications

(92 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…These American Paint horses had splashed white frame coat patterns with extensive head and limb white markings, and blue or heterochromic irides. These horses were tested and found to have the endothelin B receptor ( EDNBR ) mutation associated with overo lethal white foal syndrome 12, 25, 26. This gene plays an essential role in neural crest development 23.…”

Section: Discussionmentioning

confidence: 99%

Brainstem Auditory Evoked Responses in an Equine Patient Population: Part I – Adult Horses

Aleman

Holliday

Nieto

et al. 2014

Veterinary Internal Medicne

View full text Add to dashboard Cite

BackgroundBrainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject.Hypothesis/ObjectivesTo describe BAER findings, common clinical signs, and causes of hearing loss in adult horses.AnimalsStudy group, 76 horses; control group, 8 horses.MethodsRetrospective. BAER records from the Clinical Neurophysiology Laboratory were reviewed from the years of 1982 to 2013. Peak latencies, amplitudes, and interpeak intervals were measured when visible. Horses were grouped under disease categories. Descriptive statistics and a posthoc Bonferroni test were performed.ResultsFifty‐seven of 76 horses had BAER deficits. There was no breed or sex predisposition, with the exception of American Paint horses diagnosed with congenital sensorineural deafness. Eighty‐six percent (n = 49/57) of the horses were younger than 16 years of age. The most common causes of BAER abnormalities were temporohyoid osteoarthropathy (THO, n = 20/20; abnormalities/total), congenital sensorineural deafness in Paint horses (17/17), multifocal brain disease (13/16), and otitis media/interna (4/4). Auditory loss was bilateral and unilateral in 74% (n = 42/57) and 26% (n = 15/57) of the horses, respectively. The most common causes of bilateral auditory loss were sensorineural deafness, THO, and multifocal brain disease whereas THO and otitis were the most common causes of unilateral deficits.Conclusions and Clinical ImportanceAuditory deficits should be investigated in horses with altered behavior, THO, multifocal brain disease, otitis, and in horses with certain coat and eye color patterns. BAER testing is an objective and noninvasive diagnostic modality to assess auditory function in horses.

show abstract

Section: Discussionmentioning

confidence: 99%

Brainstem Auditory Evoked Responses in an Equine Patient Population: Part I – Adult Horses

Aleman

Holliday

Nieto

et al. 2014

Veterinary Internal Medicne

View full text Add to dashboard Cite

show abstract

“…The Agouti/MC1R axis is not a typical developmental pathway and plays little role during ontogenesis (e.g., see Gene Ontology annotations in Gephebase). In contrast, the endothelin-3 ligand/endothelin-receptor B (EDN3/EDNRB) signaling axis has pleiotropic roles in the differentiation and migration of neural crest cells, and mutations in both EDN3 and EDNRB have been found to cause pigmentation changes in domesticated chicken, cattle, and horse (Santschi et al 1998;Dorshorst et al 2011;Qanbari et al 2014). So far, only domesticated alleles of EDN3/ EDNRB that may be under unrealistic selective regimes have been mapped.…”

Section: Cis-regulatory Evolution Drives Regional Specific Color Shiftsmentioning

confidence: 99%

Morphological Evolution Repeatedly Caused by Mutations in Signaling Ligand Genes

Martin

Courtier‐Orgogozo

2017

Diversity and Evolution of Butterfly Wing Patterns

View full text Add to dashboard Cite

What types of genetic changes underlie evolution? Secreted signaling molecules (syn. ligands) can induce cells to switch states and thus largely contribute to the emergence of complex forms in multicellular organisms. It has been proposed that morphological evolution should preferentially involve changes in developmental toolkit genes such as signaling pathway components or transcription factors. However, this hypothesis has never been formally confronted to the bulk of accumulated experimental evidence. Here we examine the importance of ligandcoding genes for morphological evolution in animals. We use Gephebase (http:// www.gephebase.org), a database of genotype-phenotype relationships for evolutionary changes, and survey the genetic studies that mapped signaling genes as causative loci of morphological variation. To date, 19 signaling genes represent 20% of the cases where an animal morphological change has been mapped to a gene (80/391). This includes the signaling gene Agouti, which harbors multiple cis-regulatory alleles linked to color variation in vertebrates, contrasting with the effects of coding variation in its target, the melanocortin receptor MC1R. In sticklebacks, genetic mapping approaches have identified 4 signaling genes out of 14 loci associated with lake adaptations. Finally, in butterflies, a total of 18 allelic variants of the WntA Wnt-family ligand cause color pattern adaptations related to wing mimicry, both within and between species. We discuss possible hypotheses explaining these cases of natural replication (genetic parallelism) and conclude that signaling ligand loci are an important source of sequence variation underlying morphological change in nature.

show abstract

“…Only a few mutations causing disease or affecting other important traits have been identified yet in the horse, that is, the adult skeletal muscle sodium channel ␣ subunit gene (SCN4A) associated with hyperkalemic periodic paralysis (HYPP; Rudolph et al 1992), the catalytic subunit of the DNAdependent protein kinase (DNA-PKCS) associated with severe combined immune deficiency (SCID; Shin et al 1997), the endothelin receptor B (EDNRB) associated with overo lethal white foal syndrome (OLWS; Santschi et al 1998), and the melanocytestimulating hormone receptor (MC1R) associated with the extension (E) chestnut coat color (Marklund et al 1996b). All of these mutation identifications have been based on a comparative candidate gene approach, using information from other species in which a similar phenotype and a causative gene has been identified already.…”

Section: A Primary Equine Linkage Map Genome Research 959mentioning

confidence: 99%

A Primary Male Autosomal Linkage Map of the Horse Genome

Lindgren¹,

Sandberg²,

Persson³

et al. 1998

Genome Res.

View full text Add to dashboard Cite

A primary male autosomal linkage map of the domestic horse (Equus caballus) has been developed by segregation analysis of 140 genetic markers within eight half-sib families. The family material comprised four Standardbred trotters and four Icelandic horses, with a total of 263 offspring. The marker set included 121 microsatellite markers, eight protein polymorphisms, five RFLPs, three blood group polymorphisms, two PCR–RFLPs, and one single strand conformation polymorphism (SSCP). One hundred markers were arranged into 25 linkage groups, 22 of which could be assigned physically to 18 different chromosomes (ECA1, ECA2, ECA3, ECA4, ECA5, ECA6, ECA7, ECA9, ECA10, ECA11, ECA13, ECA15, ECA16, ECA18, ECA19, ECA21, ECA22, and ECA30). The average distance between linked markers was 12.6 cM and the longest linkage group measured 103 cM. The total map distance contained within linkage groups was 679 cM. If the distances covered outside the ends of linkage groups and by unlinked markers were included, it was estimated that the marker set covered at least 1500 cM, that is, at least 50% of the genome. A comparison of the relationship between genetic and physical distances in anchored linkage groups gave ratios of 0.5–0.8 cM per Mb of DNA. This would suggest that the total male recombinational distance in the horse is 2000 cM; this value is lower than that suggested by chiasma counts. The present map should provide an important framework for future genome mapping in the horse.

show abstract

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

Cited by 133 publications

References 23 publications

Brainstem Auditory Evoked Responses in an Equine Patient Population: Part I – Adult Horses

Brainstem Auditory Evoked Responses in an Equine Patient Population: Part I – Adult Horses

Morphological Evolution Repeatedly Caused by Mutations in Signaling Ligand Genes

A Primary Male Autosomal Linkage Map of the Horse Genome

Contact Info

Product

Resources

About