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a novel ACD mutation(p.G223V)is detected; ACD is a novel gene involved in childhood pre-B acute lymphoblastic leukemia and may play a functional role in enhancing leukemia cell survival
The data support a causal relationship between a TPP1 (zeige TPP1 Proteine) mutation and bone marrow disorders in a family.
Clustering of novel mutations in the POT1 (zeige POT1 Proteine) binding domain of ACD was statistically higher (P = .005) in melanoma probands compared with population control individuals (n = 6785).
Shelterin protein TPP 1 (zeige TPP1 Proteine) interacts with hTERT and recruits hTERT onto the telomeres, suggesting that TPP 1 (zeige TPP1 Proteine) might be involved in regulation of telomere shortening.
POT1 (zeige POT1 Proteine)-TPP1 (zeige TPP1 Proteine) binds telomeric DNA in a coordinated manner to facilitate assembly of the nucleoprotein complexes into a state that is more accessible to enzymatic activity.
Study shows that the OB-fold domain of the telomere-binding protein TPP1 (zeige TPP1 Proteine) recruits telomerase to telomeres through an association with the telomerase reverse transcriptase TERT (zeige TERT Proteine); data define a potential interface for telomerase-TPP1 (zeige TPP1 Proteine) interaction required for telomere maintenance and implicate defective telomerase recruitment in telomerase-related disease.
a paper that firstly reported cloning of human TTP1 (zeige COPRS Proteine) (PTOP) and its biological function at telomere. TPP1 (zeige TPP1 Proteine) interacts with both POT1 (zeige POT1 Proteine) and TIN2 (zeige TINF2 Proteine), heterodimerizes with POT1 (zeige POT1 Proteine) and regulates POT1 (zeige POT1 Proteine) telomeric recruitment and telomere length.
The presence of dysfunctional telomeres in chronic lymphocytic leukemia did not correlate with telomere shortening or chromatin marks deregulation but with a down-regulation of 2 shelterin genes: ACD and TINF2 (zeige TINF2 Proteine).
Results support a model in which POT1 (zeige POT1 Proteine)-TPP1 (zeige TPP1 Proteine) enhances telomerase processivity in a manner markedly different from the sliding clamps used by DNA polymerases.
TIN2 (zeige TINF2 Proteine)-anchored TPP1 (zeige TPP1 Proteine) plays a major role in the recruitment of telomerase to telomeres in human cells.
shelterin protein TIN2 (zeige TINF2 Proteine) can protect chromosome ends as a TRF2 (zeige TERF2 Proteine)-tethered TIN2 (zeige TINF2 Proteine)/TPP1 (zeige TPP1 Proteine)/POT1 (zeige POT1 Proteine) complex that lacks a physical connection to TRF1 (zeige TERF1 Proteine)
Mouse hematopoietic stem cells are acutely sensitive to inactivation of the shelterin gene Acd.
Tpp1 (zeige TPP1 Proteine) is required for the protective function of Pot1 (zeige POT1 Proteine) proteins.
Tumors from Acd(acd/acd) p53 (zeige TP53 Proteine)(+/-) mice show a striking switch from the classic spectrum of p53 (zeige TP53 Proteine)(-/-) mice toward carcinomas.
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I.
POT1 and TIN2 organizing protein
, POT1 and TIN2-interacting protein
, TIN2 interacting protein 1
, adrenocortical dysplasia protein homolog
, adrenocortical dysplasia homolog (mouse)
, adrenocortical dysplasia protein