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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 ...
The core domain of TERC contains the RNA template from which TERT synthesizes TTAGGG telomeric repeats. [10] Unlike in other RNPs, in telomerase, the protein TERT is catalytic while the lncRNA TERC is structural, rather than acting as a ribozyme. [14] The core region of TERC and TERT are sufficient to reconstitute catalytic telomerase activity ...
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 ...
Telomeric repeat–containing RNA (TERRA) is a long non-coding RNA transcribed from telomeres - repetitive nucleotide regions found on the ends of chromosomes that function to protect DNA from deterioration or fusion with neighboring chromosomes. TERRA has been shown to be ubiquitously expressed in almost all cell types containing linear ...
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 ...
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.
Autoantibodies: SFTPA1, SFTPA2, TERT, and TERC. IgA nephropathy: An immune system disorder but not an autoimmune disease. IPEX syndrome: A genetic mutation in FOXP3 that leads to autoimmune diseases, but not an autoimmune disorder itself. Ligneous conjunctivitis: No consistent evidence of association with autoimmunity. Majeed syndrome