Determining the genetic basis of equine deafness via candidate gene studies (928.3)

Autor:	Katherine Innamorati, Koren A. Lipsett
Rok vydání:	2014
Předmět:	Genetics Coat Mutation Candidate gene Biology Microphthalmia-associated transcription factor medicine.disease_cause Biochemistry Phenotype Melanocyte migration White (mutation) Exon medicine Molecular Biology Biotechnology
Zdroj:	The FASEB Journal. 28
ISSN:	1530-6860 0892-6638
DOI:	10.1096/fasebj.28.1_supplement.928.3
Popis:	White fur or coat pigmentation and the presence of blue eyes have been linked to cochleosaccular deafness in multiple mammalian species. At this time, no hereditary explanation has been presented for this phenotype as it appears in horses. A candidate gene study was established to determine the genetic basis for this disorder in a pedigree of Spanish Mustangs. KIT, a receptor tyrosine kinase implicated in multiple mammalian deafness studies, was sequenced in both the affected Spanish Mustangs and related members of the pedigree. A mutation (KI16 + 1037A) in the 5’ splice junction of exon 17 known to cause the sabino coat pattern appeared to be unlinked from the deafness phenotype. Sabino coloration is distinguished as a white coat, ranging from minimal white splashes to an entirely white mammal. Future research will focus on the sequencing of additional candidate genes affecting melanocyte migration and melanin production, including EDNRB, MITF, PMEL17, and SOX10.Grant Funding Source: Supported by HHMI
Databáze:	OpenAIRE
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