ArticleBMC biology2016
A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs.
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Article in BMC biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35citing papers in PubMed
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35 citing papers in PubMed, 68 citations in OpenAlex.
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- Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.Scientific reports · 2024Article
- Repressor elements provide insights into tissue development and phenotypes in pigs.Zoological research · 2024Article
- PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome.G3 (Bethesda, Md.) · 2024Article
- Genetically modified pigs: Emerging animal models for hereditary hearing loss.Zoological research · 2024Review
- Characterization analysis of Rongchang pig population based on the Zhongxin-1 Porcine Breeding Array PLUS.Animal bioscience · 2023Article
- Involvement of NLRP3-inflammasome pathway in noise-induced hearing loss.Neural regeneration research · 2022Article
- Whole-genome resequencing reveals molecular imprints of anthropogenic and natural selection in wild and domesticated sheep.Zoological research · 2022Article
- Sox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model.Molecular neurobiology · 2022Article
- Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis.Frontiers in cell and developmental biology · 2022Review
- Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Molecular genetics & genomic medicine · 2021Article
- Analysis of Homozygous-by-Descent (HBD) Segments for Purebred and Crossbred Pigs in Russia.Life (Basel, Switzerland) · 2021Article
- Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.Molecular biology and evolution · 2021Article
- A Missense Mutation in theGenes · 2021Article
- SCN11A gene deletion causes sensorineural hearing loss by impairing the ribbon synapses and auditory nerves.BMC neuroscience · 2021Article
- Viewing the current situation of pig model application in China's medical field from the application and funding of NSFC.Journal of otology · 2021Review
- A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.Molecular genetics & genomic medicine · 2020Article
- STRING data mining of GWAS data in canine hereditary pigment-associated deafness.Veterinary and animal science · 2020Article
- Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.BMC medical genetics · 2020Article
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Authors and funding
51 authors at 5 institutions in 2 countries.
Lei ChenState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Weiwei GuoDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Lili RenDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Mingyao YangInstitute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
Yaofeng ZhaoState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Zongyi GuoKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Haijin YiDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Mingzhou LiInstitute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
Yiqing HuState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Xi LongKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Boyuan SunInstitute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
Jinxiu LiState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Suoqiang ZhaiDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Tinghuan ZhangKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Shilin TianInstitute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
Qingyong MengState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Ning YuDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Dan ZhuKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Guoqing TangInstitute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
Qianzi TangInstitute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
Liming RenState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Ke LiuDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Shihua ZhangKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Tiandong CheInstitute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China.
Zhengquan YuState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Nan WuDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Lan JingKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Ran ZhangState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Tao CongDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Siqing ChenKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Yiqiang ZhaoState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Yue ZhangDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Xiaoqing BaiKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Ying GuoState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Lidong ZhaoDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Fengming ZhangKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Hui ZhaoDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Liang ZhangKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Zhaohui HouDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Jiugang ZhaoKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Jianan LiDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China.
Lijuan ZhangKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Wei SunDepartment of Communicative Disorders and Sciences, Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York, USA.
Xiangang ZouKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Tao WangKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Liangpeng GeKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Zuohua LiuKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China.
Xiaoxiang HuState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China.
Jingyong WangKey Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China. kingyou@vip.sina.com.
Shiming YangDepartment of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. yangsm301@263.net.
Ning LiState Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China. ninglcau@cau.edu.cn.
Chongqing Academy of Animal Science · CNChinese PLA General Hospital · CNChina Agricultural University · CNSichuan Agricultural University · CNUniversity at Buffalo, State University of New York · US
Funding
Translating Drinking and Driving Risk Information into Risk PerceptionR01AA020510 · NIAAA · PACIFIC INSTITUTE FOR RES AND EVALUATION · PI JOHNSON, MARK B · 2012 to 2015
$1.3MNIAAA NIH HHS R01 AA020510
Abstract
backgroundGenesis of novel gene regulatory modules is largely responsible for morphological and functional evolution. De novo generation of novel cis-regulatory elements (CREs) is much rarer than genomic events that alter existing CREs such as transposition, promoter switching or co-option. Only one case of de novo generation has been reported to date, in fish and without involvement of phenotype alteration. Yet, this event likely occurs in other animals and helps drive genetic/phenotypic variation.
resultsUsing a porcine model of spontaneous hearing loss not previously characterized we performed gene mapping and mutation screening to determine the genetic foundation of the phenotype. We identified a mutation in the non-regulatory region of the melanocyte-specific promoter of microphthalmia-associated transcription factor (MITF) gene that generated a novel silencer. The consequent elimination of expression of the MITF-M isoform led to early degeneration of the intermediate cells of the cochlear stria vascularis and profound hearing loss, as well as depigmentation, all of which resemble the typical phenotype of Waardenburg syndrome in humans. The mutation exclusively affected MITF-M and no other isoforms. The essential function of Mitf-m in hearing development was further validated using a knock-out mouse model.
conclusionsElimination of the MITF-M isoform alone is sufficient to cause deafness and depigmentation. To our knowledge, this study provides the first evidence of a de novo CRE in mammals that produces a systemic functional effect.
Indexed as
AnimalsBase SequenceChromosome MappingCochleaDisease Models, AnimalElectrophysiological PhenomenaGene Expression RegulationGenetic TestingGenome-Wide Association StudyHearing LossMicrophthalmia-Associated Transcription FactorMutationPhenotypePromoter Regions, GeneticProtein IsoformsSilencer Elements, TranscriptionalMicrophthalmia-Associated Transcription FactorProtein Isoformscis-regulatory elementDe novo silencerHearing lossMITF-MPigWaardenburg syndrome
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