User:Mssstreet/Ultra-conserved element

UCEs in Disease
UCEs are categorically conserved among orthologous regions of several species’ genomes. A large fraction of UCEs have been found to be transcriptionally active and involved in multiple human cancers (1 from chart references). The transcription of several UCEs is upregulated by hypoxia. Research has demonstrated that T-UCRs have a tissue-specific expression, and a differential expression profile between tumors and other diseases. In genomic instability conditions Ultraconserved elements do not accumulate mutations in somatic cells. UCRs tend to accumulate less mutations than flanking segments, in both neoplastic and non-neoplastic samples from persons with hereditary non-polyposis colorectal cancer. There are 481 UCRs if excluding ribosomal DNA (rDNA regions) these range in size from 200 bp to 781 bp. UCRs were found on all chromosomes except for 21 and Y. Genome-wide profiling reveals extensive transcription of UCRs in normal human tissues. Therefore, these regions are also named transcribed UCRs (T-UCRs). The T-UCRs are associated with several types of disease the majority being cancer related. Some of these are chronic lymphocytic leukemia (CLL), colorectal carcinoma (CRC), and hepatocellular carcinoma (HCC). UCE polymorphisms currently is not associated with diseases or phenotypic traits, but 112 are annotated as phenotype associated in the Ensembl genome browser.

TABLE 1 Regulation mechanisms of ultraconserved regions (UCRs) transcripts related to disease : Table 2. An Overview of Phenotype-Associated Polymorphisms Within Ultraconserved Elements for Which Literature References Have Been Found :