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Highlighting transcribed ultraconserved regions in human diseases

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Abstract Ultraconserved regions (UCRs) are 481 DNA segments longer than 200 bp in length that are completely conserved among human, mouse, and rat and, extremely conserved across disparate taxa. More than 90% of UCRs are transcribed (T‐UCRs) in normal tissues, but most of them remain uncharacterized. In addition, it was demonstrated that T‐UCRs have a tissue‐specific expression, and a differential expression profile between tumors and other diseases, which suggests that most of T‐UCRs may have an important role in cell processes. However, there is little information about T‐UCR characterization or about their molecular mechanisms of action. Taking this into account, in this study, we aim to summarize deregulated T‐UCRs in human diseases, emphasizing the ones with stronger functional evidences that are associated with important cell pathways and have a detailed molecular characterization. This article is characterized under: RNA in Disease and Development > RNA in Disease Regulatory RNAs/RNAi/Riboswitches > Regulatory RNAs
Ideogram representing the position of transcribed ultraconserved regions (T‐UCRs) most studied in human diseases. UCRs are named based on their position according to the genome. *Red: upregulated; Green: downregulated; Blue: controversial; Black: associated with expression level in other diseases. BC, breast cancer; BlaC, bladder cancer; BT, Barret's adenocarcinoma; CLL, chronic lymphocytic leukemia; CRC, colorectal cancer; CS, circulatory system; CV, cervical cancer; ES, esophagus cancer; GC, gastric cancer; GIT, gastrointestinal tract; GUT, gastro urinary tract; LG, lung cancer; LM, lipid metabolism; LT, liver cancer; NB, neuroblastoma; NV, nervous system; PC, prostate cancer; SNP, single nucleotide polymorphism
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Transcribed ultraconserved regions (T‐UCRs) associated with physiologic/pathologic processes. The expression of T‐UCRs has been described in the different physiologic and pathologic processes rather than cancer. They mostly affect cell proliferation and apoptosis in distinct tissues, but also the recruitment of inflammation cells. *Green arrows meaning promotion and red meaning suppression of physiological process
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Transcribed ultraconserved regions (T‐UCRs) associated with the cellular processes. Tumor development depends on the combination of various cellular processes, especially the ones involving proliferation and apoptosis. T‐UCRs have been proving to regulate some of these cellular processes. *Green arrows are meaning promotion and red meaning suppression of physiological process
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Representative transcribed ultraconserved regions (T‐UCRs) associated with cancer. T‐UCRs have differential expression in distinct types of tumor, some of them are associated with more than one type. Moreover, T‐UCRs are proved to be involved with some cellular process, such as apoptosis, DNA methylation, cell cycle, proliferation. T‐UCRs associated with more than one tumor type and/or tumor process are highlighted here. Red: upregulated; Green: downregulated
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RNA in Disease and Development > RNA in Disease
Regulatory RNAs/RNAi/Riboswitches > Regulatory RNAs

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