The noncoding genome and hearing loss

被引:11
作者
Avraham, Karen B. [1 ,2 ]
Khalaily, Lama [1 ,2 ]
Noy, Yael [1 ,2 ]
Kamal, Lara [1 ,2 ]
Koffler-Brill, Tal [1 ,2 ]
Taiber, Shahar [1 ,2 ]
机构
[1] Tel Aviv Univ, Dept Human Mol Genet & Biochem, Fac Med, IL-6997801 Tel Aviv, Israel
[2] Tel Aviv Univ, Sagol Sch Neurosci, IL-6997801 Tel Aviv, Israel
基金
以色列科学基金会; 美国国家卫生研究院;
关键词
INNER-EAR DEVELOPMENT; X-LINKED DEAFNESS; CELL-DIFFERENTIATION; SENSORY ORGAN; LONG; EXPRESSION; RNA; GENE; MUTATIONS; ENHANCERS;
D O I
10.1007/s00439-021-02359-z
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:323 / 333
页数:11
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