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65057 497652 Ensembl ENSG00000102977 ENSMUSG00000038000 UniProt Q96AP0 Q5EE38 RefSeq (mRNA) NM_001082486 NM_001082487 NM_022914 NM_001012638 NM_001348349 RefSeq (protein) NP_001075955 NP_075065 NP_001012656 NP_001335278 Location (UCSC) Chr 16: 67.66 – 67.66 Mb Chr 8: 106.42 – 106.43 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Adrenocortical dysplasia protein homolog is a ...
Shelterin (also called telosome) is a protein complex known to protect telomeres in many eukaryotes from DNA repair mechanisms, as well as to regulate telomerase activity. In mammals and other vertebrates, telomeric DNA consists of repeating double-stranded 5'-TTAGGG-3' (G-strand) sequences (2-15 kilobases in humans) along with the 3'-AATCCC-5' (C-strand) complement, ending with a 50-400 ...
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). Telomeres are a widespread genetic feature most commonly found in eukaryotes.
When the cell does this due to telomere-shortening, the ends of different chromosomes can be attached to each other. This solves the problem of lacking telomeres, but during cell division anaphase, the fused chromosomes are randomly ripped apart, causing many mutations and chromosomal abnormalities. As this process continues, the cell's genome ...
In general, TERRA has been shown to be most abundant in cells with long telomeres, [2] [3] while cells with short telomeres express comparatively lower levels of transcript expression. There is also evidence that overexpression of TERRA in human cells can help promote telomere processing by inhibiting the 5'-3' exonuclease Exo1 through the Ku70 ...
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]
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In contrast, germ line and cancer cells possess an enzyme, telomerase, which prevents telomere degradation and maintains telomere integrity, causing these types of cells to be very long-lived. In humans, the role of subtelomere disorders is demonstrated in facioscapulohumeral muscular dystrophy (FSHD), Alzheimer's disease , epilepsy [ 17 ] and ...