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Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex. [5] [6] Telomerases are part of a distinct subgroup of RNA-dependent polymerases.
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 and CR4/CR5 conserved domain associate with TERT, and are the only domains of TERC necessary for in vitro catalytic activity of telomerase. [11] The 3’ end of TERC consists of a conserved H/ACA domain, [10] a 2 hairpin structure connected by a single-stranded hinge and bordered on the 3’ end by a single-stranded ACA sequence ...
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]
Human chromosomes (grey) capped by telomeres (white). A telomere (/ ˈ t ɛ l ə m ɪər, ˈ t iː l ə-/; from Ancient Greek τέλος (télos) 'end' and μέρος (méros) 'part') is a region of repetitive nucleotide sequences associated with specialized proteins at the ends of linear chromosomes (see Sequences).
No consistent evidence of autoimmune cause though the disease has been found comorbid with other autoimmune diseases. [124] Idiopathic pulmonary fibrosis: Autoantibodies: SFTPA1, SFTPA2, TERT, and TERC. IgA nephropathy: An immune system disorder but not an autoimmune disease. IPEX syndrome
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 ...
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.