Whole genome sequencing identifies genetic candidates for high-frequency hearing loss in canaries (serinus canaria).

IF 2.1 2区 物理与天体物理 Q2 ACOUSTICS
Farrah N Madison, Matthew A Conte, Jane A Brown, Karen L Carleton, Robert J Dooling
{"title":"Whole genome sequencing identifies genetic candidates for high-frequency hearing loss in canaries (serinus canaria).","authors":"Farrah N Madison, Matthew A Conte, Jane A Brown, Karen L Carleton, Robert J Dooling","doi":"10.1121/10.0036218","DOIUrl":null,"url":null,"abstract":"<p><p>Over hundreds of years, breeders have selectively bred different strains of canaries for plumage and song characteristics. One strain, the Belgian Waterslager canary, has been bred for loud, low frequency song and coincidently has been found to have a high-frequency hearing loss due to damaged and missing hair cells in the basilar papilla. Here, we investigated the possible genetic basis for this hearing loss in the Belgian Waterslager canary by conducting whole-genome Illumina (San Diego, CA) sequencing in three canary strains. We identified a total of 16 Belgian Waterslager male-specific \"high-impact\" single nucleotide polymorphisms (SNP) variants with three mutations occurring within genes previously identified in mammalian hair cell abnormalities and hearing loss disorders: pericentriolar material 1 (PCM1), p21 (RAC1) activated kinase 3 (PAK3)-like, and protein tyrosine phosphatase receptor type K (PTPRK). Interestingly, we also identified three male-specific \"high-impact\" SNP variants in one of our control strains: the American Singer canary. One of these mutations occurs within genes previously associated with hearing loss in mammals. Since songbirds rely on hearing to develop a normal vocal repertoire, investigating the role of these genes in hearing loss at the molecular level may provide a valuable animal model for examining the relationship between hearing loss and vocal development in humans.</p>","PeriodicalId":17168,"journal":{"name":"Journal of the Acoustical Society of America","volume":"157 4","pages":"2330-2335"},"PeriodicalIF":2.1000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Acoustical Society of America","FirstCategoryId":"101","ListUrlMain":"https://doi.org/10.1121/10.0036218","RegionNum":2,"RegionCategory":"物理与天体物理","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ACOUSTICS","Score":null,"Total":0}
引用次数: 0

Abstract

Over hundreds of years, breeders have selectively bred different strains of canaries for plumage and song characteristics. One strain, the Belgian Waterslager canary, has been bred for loud, low frequency song and coincidently has been found to have a high-frequency hearing loss due to damaged and missing hair cells in the basilar papilla. Here, we investigated the possible genetic basis for this hearing loss in the Belgian Waterslager canary by conducting whole-genome Illumina (San Diego, CA) sequencing in three canary strains. We identified a total of 16 Belgian Waterslager male-specific "high-impact" single nucleotide polymorphisms (SNP) variants with three mutations occurring within genes previously identified in mammalian hair cell abnormalities and hearing loss disorders: pericentriolar material 1 (PCM1), p21 (RAC1) activated kinase 3 (PAK3)-like, and protein tyrosine phosphatase receptor type K (PTPRK). Interestingly, we also identified three male-specific "high-impact" SNP variants in one of our control strains: the American Singer canary. One of these mutations occurs within genes previously associated with hearing loss in mammals. Since songbirds rely on hearing to develop a normal vocal repertoire, investigating the role of these genes in hearing loss at the molecular level may provide a valuable animal model for examining the relationship between hearing loss and vocal development in humans.

全基因组测序确定了金丝雀(serinus canaria)高频听力损失的候选基因。
数百年来,饲养者选择性地培育了不同品种的金丝雀,以区分它们的羽毛和鸣叫特征。一种叫比利时水雀的金丝雀,被培育出来是为了发出响亮的、低频的叫声,而碰巧的是,由于基底乳头的毛细胞受损和缺失,它被发现有高频听力损失。在这里,我们通过对三个金丝雀品系进行全基因组Illumina (San Diego, CA)测序,研究了比利时水slager金丝雀听力损失的可能遗传基础。研究人员共鉴定出16种比利时水slager男性特异性“高影响”单核苷酸多态性(SNP)变异,其中3种突变发生在先前在哺乳动物毛细胞异常和听力损失障碍中发现的基因中:中心周围物质1 (PCM1)、p21 (RAC1)活化激酶3 (PAK3)样和蛋白酪氨酸磷酸酶受体K (PTPRK)。有趣的是,我们还在我们的对照菌株之一:美国歌手金丝雀中发现了三种男性特异性的“高影响”SNP变体。其中一种突变发生在先前与哺乳动物听力损失相关的基因中。由于鸣禽依靠听觉来发展正常的声乐曲目,从分子水平上研究这些基因在听力损失中的作用可能为研究人类听力损失与声乐发育之间的关系提供有价值的动物模型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
4.60
自引率
16.70%
发文量
1433
审稿时长
4.7 months
期刊介绍: Since 1929 The Journal of the Acoustical Society of America has been the leading source of theoretical and experimental research results in the broad interdisciplinary study of sound. Subject coverage includes: linear and nonlinear acoustics; aeroacoustics, underwater sound and acoustical oceanography; ultrasonics and quantum acoustics; architectural and structural acoustics and vibration; speech, music and noise; psychology and physiology of hearing; engineering acoustics, transduction; bioacoustics, animal bioacoustics.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信