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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 ...
This distinguishes expression quantitative traits from most complex traits, which are not the product of the expression of a single gene. Chromosomal loci that explain variance in expression traits are called eQTLs. eQTLs located near the gene-of-origin (gene which produces the transcript or protein) are referred to as local eQTLs or cis-eQTLs.
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.
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).
[2] Non-functional DNA elements such as pseudogenes and repetitive DNA, both of which are types of junk DNA, can also be found in intergenic regions—although they may also be located within genes in introns. [2] It is possible that these regions contain as of yet unidentified functional elements, such as non-coding genes or regulatory ...
The SHOX gene in the PAR1 region is the gene most commonly associated with and well understood with regards to disorders in humans, [17] but all pseudoautosomal genes escape X-inactivation and are therefore candidates for having gene dosage effects in sex chromosome aneuploidy conditions (45,X, 47,XXX, 47,XXY, 47,XYY, etc.).