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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 ...
Telomerase RNA component, also known as TR, TER or TERC, is an ncRNA found in eukaryotes that is a component of telomerase, the enzyme used to extend telomeres. [ 3 ] [ 4 ] TERC serves as a template for telomere replication ( reverse transcription ) by telomerase.
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 ...
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. [3] The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, and myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), but these components do not always occur. [3]
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).
•List of human protein-coding genes page 2 covers genes EPHA1–MTMR3 •List of human protein-coding genes page 3 covers genes MTMR4–SLC17A7 •List of human protein-coding genes page 4 covers genes SLC17A8–ZZZ3 NB: Each list page contains 5000 human protein-coding genes, sorted alphanumerically by the HGNC-approved gene symbol.
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.
Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, [1] are a group of progressive, incurable, and fatal conditions that are associated with the prion hypothesis and affect the brain and nervous system of many animals, including humans, cattle, and sheep.