Literature DB >> 34491412

The noncoding genome and hearing loss.

Karen B Avraham1, Lama Khalaily2, Yael Noy2, Lara Kamal2, Tal Koffler-Brill2, Shahar Taiber2.   

Abstract

The age of sequencing has provided unprecedented insights into the human genome. The coding region of the genome comprises nearly 20,000 genes, of which approximately 4000 are associated with human disease. Beyond the protein-coding genome, which accounts for only 3% of the genome, lies a vast pool of regulatory elements in the form of promoters, enhancers, RNA species, and other intricate elements. These features undoubtably influence human health and disease, and as a result, a great deal of effort is currently being invested in deciphering their identity and mechanism. While a paucity of material has caused a lag in identifying these elements in the inner ear, the emergence of technologies for dealing with a minimal number of cells now has the field working overtime to catch up. Studies on microRNAs (miRNAs), long non-coding RNAs (lncRNAs), methylation, histone modifications, and more are ongoing. A number of microRNAs and other noncoding elements are known to be associated with hearing impairment and there is promise that regulatory elements will serve as future tools and targets of therapeutics and diagnostics. This review covers the current state of the field and considers future directions for the noncoding genome and implications for hearing loss.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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Year:  2021        PMID: 34491412     DOI: 10.1007/s00439-021-02359-z

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  111 in total

1.  Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses.

Authors:  Moran N Cabili; Cole Trapnell; Loyal Goff; Magdalena Koziol; Barbara Tazon-Vega; Aviv Regev; John L Rinn
Journal:  Genes Dev       Date:  2011-09-02       Impact factor: 11.361

2.  Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.

Authors:  Guney Bademci; Clemer Abad; Filiz B Cengiz; Serhat Seyhan; Armagan Incesulu; Shengru Guo; Suat Fitoz; Emine Ikbal Atli; Nicholas C Gosstola; Selma Demir; Brett M Colbert; Gozde Cosar Seyhan; Claire J Sineni; Duygu Duman; Hakan Gurkan; Cynthia C Morton; Derek M Dykxhoorn; Katherina Walz; Mustafa Tekin
Journal:  J Clin Invest       Date:  2020-08-03       Impact factor: 14.808

Review 3.  Non-coding RNAs in Development and Disease: Background, Mechanisms, and Therapeutic Approaches.

Authors:  Julia Beermann; Maria-Teresa Piccoli; Janika Viereck; Thomas Thum
Journal:  Physiol Rev       Date:  2016-10       Impact factor: 37.312

4.  Math1: an essential gene for the generation of inner ear hair cells.

Authors:  N A Bermingham; B A Hassan; S D Price; M A Vollrath; N Ben-Arie; R A Eatock; H J Bellen; A Lysakowski; H Y Zoghbi
Journal:  Science       Date:  1999-06-11       Impact factor: 47.728

5.  Genomic analysis of inherited hearing loss in the Palestinian population.

Authors:  Amal Abu Rayyan; Lara Kamal; Silvia Casadei; Zippora Brownstein; Fouad Zahdeh; Hashem Shahin; Christina Canavati; Dima Dweik; Tamara Jaraysa; Grace Rabie; Ryan J Carlson; Suleyman Gulsuner; Ming K Lee; Karen B Avraham; Tom Walsh; Mary-Claire King; Moien N Kanaan
Journal:  Proc Natl Acad Sci U S A       Date:  2020-08-03       Impact factor: 11.205

6.  Exportin 5 is a RanGTP-dependent dsRNA-binding protein that mediates nuclear export of pre-miRNAs.

Authors:  Markus T Bohnsack; Kevin Czaplinski; Dirk Gorlich
Journal:  RNA       Date:  2004-02       Impact factor: 4.942

7.  Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

Authors:  M Bitner-Glindzicz; P Turnpenny; P Höglund; H Kääriäinen; E M Sankila; S M van der Maarel; Y J de Kok; H H Ropers; F P Cremers; M Pembrey
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

Review 8.  MicroRNAs: target recognition and regulatory functions.

Authors:  David P Bartel
Journal:  Cell       Date:  2009-01-23       Impact factor: 41.582

9.  Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells.

Authors:  Amel Bahloul; Marie-Christine Simmler; Vincent Michel; Michel Leibovici; Isabelle Perfettini; Isabelle Roux; Dominique Weil; Sylvie Nouaille; Jian Zuo; Cristina Zadro; Danilo Licastro; Paolo Gasparini; Paul Avan; Jean-Pierre Hardelin; Christine Petit
Journal:  EMBO Mol Med       Date:  2009-05       Impact factor: 12.137

10.  Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Authors:  Zippora Brownstein; Suleyman Gulsuner; Tom Walsh; Fábio T A Martins; Shahar Taiber; Ofer Isakov; Ming K Lee; Mor Bordeynik-Cohen; Maria Birkan; Weise Chang; Silvia Casadei; Nada Danial-Farran; Amal Abu-Rayyan; Ryan Carlson; Lara Kamal; Asgeir Ö Arnthórsson; Meirav Sokolov; Dror Gilony; Noga Lipschitz; Moshe Frydman; Bella Davidov; Michal Macarov; Michal Sagi; Chana Vinkler; Hana Poran; Reuven Sharony; Nadra Samra; Na'ama Zvi; Hagit Baris-Feldman; Amihood Singer; Ophir Handzel; Ronna Hertzano; Doaa Ali-Naffaa; Noa Ruhrman-Shahar; Ory Madgar; Efrat Sofrin-Drucker; Amir Peleg; Morad Khayat; Mordechai Shohat; Lina Basel-Salmon; Elon Pras; Dorit Lev; Michael Wolf; Eirikur Steingrimsson; Noam Shomron; Matthew W Kelley; Moien N Kanaan; Stavit Allon-Shalev; Mary-Claire King; Karen B Avraham
Journal:  Clin Genet       Date:  2020-08-24       Impact factor: 4.296

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  1 in total

1.  The hearing-impaired patient: what the future holds.

Authors:  Richard J H Smith
Journal:  Hum Genet       Date:  2022-03-15       Impact factor: 5.881

  1 in total

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