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[17] iPS cells derived from DKC patients with a heterozygous mutation on the TERT gene display a 50% reduction in telomerase activity compared to wild type iPS cells. [38] Conversely, mutations on the TERC gene (RNA portion of telomerase complex) can be overcome by up-regulation due to reprogramming as long as the hTERT gene is intact and ...
The genes of telomerase subunits, which include TERT, [16] TERC, [17] DKC1 [18] and TEP1, [19] are located on different chromosomes. The human TERT gene (hTERT) is translated into a protein of 1132 amino acids. [20] TERT polypeptide folds with (and carries) TERC, a non-coding RNA (451 nucleotides long). TERT has a 'mitten' structure that allows ...
TERC is ubiquitously expressed, even in cells lacking telomerase activity and TERT expression. [15] As a result, various TERT-independent functional roles of TERC have been proposed. 14 genes containing a TERC binding motif are directly transcriptionally regulated by TERC through RNA-DNA triplex formation-mediated increase of expression.
3 genes: TERC, TERT, TINF2 The evidence supporting the importance of the H/ACA domain in human telomerase is abundant. At least one study [13] has shown that these mutations affect telomerase activity by negatively affecting pre-RNP assembly and maturation of human telomerase RNA. Nonetheless, mutations that directly affect the telomerase RNA ...
Dyskerin is essential for the activity of telomerase by accumulating telomerase RNA component (TERC). [8] This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA ...
TERRA is an evolutionarily conserved long-non-coding RNA found in many nucleus-containing eukaryotic cells such as chicken (Gallus gallus domesticus), [1] humans (Homo sapiens), budding yeast (Schizosaccharomyces cerevisiae), fission yeast (Schizosaccharomyces pombe), mice (Mus musculus), zebrafish (Danio rerio), and various plants (Arabidopsis thaliana, et cetera).
The terC RNA motif is a conserved RNA structure that was discovered by bioinformatics. [1] terC motif RNAs are found in Pseudomonadota, within the sub-lineages Alphaproteobacteria and Pseudomonadales. terC motif RNAs likely function as cis-regulatory elements, in view of their positions upstream of protein-coding genes.
Reptin coordinates with a number of proteins that are involved in cancer and cancer suppression. These include Telomerase, P53, and HINT1. [2] Telomerase is a protein complex with telomerase reverse transcriptase (TERT), an RNA component (TERC), dyskerin, which binds TERC, reptin, pontin, and a number of other proteins, and both reptin and pontin have been shown to be key factors in telomerase ...