Search results
Results From The WOW.Com Content Network
[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 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).
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 ...
DNA gyrase is a tetrameric enzyme that consists of 2 GyrA ("A") and 2 GyrB ("B") subunits. [8] Structurally the complex is formed by 3 pairs of "gates", sequential opening and closing of which results into the direct transfer of DNA segment and introduction of 2 negative supercoils. N-gates are formed by ATPase domains of GyrB subunits.
In the field of molecular biology, the ETS (E26 transformation-specific [2] or Erythroblast Transformation Specific [3]) family is one of the largest families of transcription factors and is unique to animals. There are 28 genes in humans, [4] 27 in the mouse, 10 in Caenorhabditis elegans and 9 in Drosophila.