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Hearing Disorders: HELP
Articles by Xiaoxiang Hu
Based on 2 articles published since 2010
(Why 2 articles?)
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Between 2010 and 2020, Xiaoxiang Hu wrote the following 2 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs. 2016

Chen, Lei / Guo, Weiwei / Ren, Lili / Yang, Mingyao / Zhao, Yaofeng / Guo, Zongyi / Yi, Haijin / Li, Mingzhou / Hu, Yiqing / Long, Xi / Sun, Boyuan / Li, Jinxiu / Zhai, Suoqiang / Zhang, Tinghuan / Tian, Shilin / Meng, Qingyong / Yu, Ning / Zhu, Dan / Tang, Guoqing / Tang, Qianzi / Ren, Liming / Liu, Ke / Zhang, Shihua / Che, Tiandong / Yu, Zhengquan / Wu, Nan / Jing, Lan / Zhang, Ran / Cong, Tao / Chen, Siqing / Zhao, Yiqiang / Zhang, Yue / Bai, Xiaoqing / Guo, Ying / Zhao, Lidong / Zhang, Fengming / Zhao, Hui / Zhang, Liang / Hou, Zhaohui / Zhao, Jiugang / Li, Jianan / Zhang, Lijuan / Sun, Wei / Zou, Xiangang / Wang, Tao / Ge, Liangpeng / Liu, Zuohua / Hu, Xiaoxiang / Wang, Jingyong / Yang, Shiming / Li, Ning. ·State Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China. · Key Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China. · Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. · Institute of Animal Genetics and Breeding, College of Animal Science and Technology, Sichuan Agricultural University, Ya'an, Sichuan, 625014, China. · Department of Communicative Disorders and Sciences, Center for Hearing and Deafness, State University of New York at Buffalo, Buffalo, New York, USA. · Key Laboratory of Pig Industry Sciences (Ministry of Agriculture), Chongqing Academy of Animal Science, Chongqing, 402460, China. kingyou@vip.sina.com. · Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China. yangsm301@263.net. · State Key Laboratory for Agrobiotechnology, College of Biological Sciences, National Engineering Laboratory for Animal Breeding, China Agricultural University, Beijing, 100193, China. ninglcau@cau.edu.cn. ·BMC Biol · Pubmed #27349893.

ABSTRACT: BACKGROUND: Genesis 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. RESULTS: Using 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. CONCLUSIONS: Elimination 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.

2 Article Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. 2013

Zhao, Yali / Zhao, Feifan / Zong, Liang / Zhang, Peng / Guan, Liping / Zhang, Jianguo / Wang, Dayong / Wang, Jing / Chai, Wei / Lan, Lan / Li, Qian / Han, Bing / Yang, Ling / Jin, Xin / Yang, Weiyan / Hu, Xiaoxiang / Wang, Xiaoning / Li, Ning / Li, Yingrui / Petit, Christine / Wang, Jun / Wang, Huanming Yang Jian / Wang, Qiuju. ·Department of Otorhinolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China. ·PLoS One · Pubmed #23936043.

ABSTRACT: In this study, a five-generation Chinese family (family F013) with progressive autosomal dominant hearing loss was mapped to a critical region spanning 28.54 Mb on chromosome 9q31.3-q34.3 by linkage analysis, which was a novel DFNA locus, assigned as DFNA56. In this interval, there were 398 annotated genes. Then, whole exome sequencing was applied in three patients and one normal individual from this family. Six single nucleotide variants and two indels were found co-segregated with the phenotypes. Then using mass spectrum (Sequenom, Inc.) to rank the eight sites, we found only the TNC gene be co-segregated with hearing loss in 53 subjects of F013. And this missense mutation (c.5317G>A, p.V1773M ) of TNC located exactly in the critical linked interval. Further screening to the coding region of this gene in 587 subjects with nonsyndromic hearing loss (NSHL) found a second missense mutation, c.5368A>T (p. T1796S), co-segregating with phenotype in the other family. These two mutations located in the conserved region of TNC and were absent in the 387 normal hearing individuals of matched geographical ancestry. Functional effects of the two mutations were predicted using SIFT and both mutations were deleterious. All these results supported that TNC may be the causal gene for the hearing loss inherited in these families. TNC encodes tenascin-C, a member of the extracellular matrix (ECM), is present in the basilar membrane (BM), and the osseous spiral lamina of the cochlea. It plays an important role in cochlear development. The up-regulated expression of TNC gene in tissue repair and neural regeneration was seen in human and zebrafish, and in sensory receptor recovery in the vestibular organ after ototoxic injury in birds. Then the absence of normal tenascin-C was supposed to cause irreversible injuries in cochlea and caused hearing loss.