Early onset of adult deafness in the Rhodesian Ridgeback is associated with in-frame deletion in the EPS8L2 gene ...

• Main Authors: Kawakami, Takeshi, Raghavan, Vandana, Ruhe, Alison, Jensen, Meghan, Milano, Ausra, Nelson, Thomas, Boyko, Adam
• Format: Dataset
• Language: English
• Published: Dryad 2021
• Subjects: Canis lupus familiaris; genome-wide association studies GWAS; SNP array genotyping; hearing loss; deafness; Canis lupus
• Online Access: https://dx.doi.org/10.5061/dryad.pg4f4qrqt; https://datadryad.org/stash/dataset/doi:10.5061/dryad.pg4f4qrqt

Domestic dogs exhibit diverse types of both congenital and non-congenital hearing losses. Rhodesian Ridgebacks can suffer from a progressive hearing loss in the early stage of their life, a condition known as early onset of adult deafness (EOAD), where they lose their hearing ability within 1-2 years after birth. In order to investigate the genetic basis of this hereditary hearing disorders, we performed a genome-wide association study (GWAS) by using a sample of 23 affected and 162 control Rhodesian Ridgebacks. We identified a genomic region on canine chromosome 18 (CFA18) that is strongly associated with EOAD, and our subsequent targeted Sanger sequencing analysis identified a 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1/canFam5 reference genome build). Additional genotyping confirmed a strong association between the 12-bp deletion and EOAD, where all affected dogs were homozygous for the deletion, while none of the control dogs was a deletion homozygote. A ... : In order to recruit EOAD-affected and normal hearing dogs, we conducted an online survey in 2020 to private dog owners of Rhodesian Ridgebacks who agreed to participate in scientific research. DNA was extracted from buccal swab samples collected by dog owners and extracted by Illumina, Inc. Genotypes of the dogs were collected by using custom Illumina Canine high-density SNP arrays. ...