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.

测序时代为人类基因组提供了前所未有的洞察力。基因组的编码区包含近 20,000 个基因，其中约 4000 个与人类疾病有关。除了仅占基因组 3% 的蛋白质编码基因组之外，还有大量以启动子、增强子、RNA 种类和其他复杂元件形式存在的调控元件。这些特征无疑会影响人类健康和疾病，因此，目前正在投入大量精力来破译它们的身份和机制。虽然缺乏材料导致识别内耳中的这些元素存在滞后，但处理最少数量细胞的技术的出现现在使该领域加班加点赶上。对 microRNAs (miRNAs)、长链非编码 RNAs (lncRNAs) 的研究，甲基化、组蛋白修饰等正在进行中。已知许多 microRNA 和其他非编码元件与听力障碍有关，并且有希望将调节元件用作治疗和诊断的未来工具和目标。这篇综述涵盖了该领域的现状，并考虑了非编码基因组的未来方向和对听力损失的影响。