| Autor: |
Nathan, Vaishnavi, Johansson, Peter A., Palmer, Jane M., Hamilton, Hayley R., Howlie, Madeleine, Brooks, Kelly M., Hayward, Nicholas K., Pritchard, Antonia L. |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Jan2021, Vol. 192 Issue 2, pe57-e60, 4p |
| Abstrakt: |
Protection of telomeres 1 (POT1) is a component of the shelterin complex of six subunits encoded by adrenocortical dysplasia protein homologue ( I ACD i ; also known as TPP1), I POT1 i , telomeric repeat binding factor 1 ( I TERF1 i ), telomeric repeat binding factor 2 ( I TERF2 i ), TERF1-interacting nuclear factor 2 ( I TINF2 i ) and TERF2 interacting protein ( I TERF2IP i ), which binds to single-stranded telomeric DNA to regulate telomere elongation and integrity.1 The telomerase and shelterin complexes play specific roles in telomere maintenance and prevention of activation of DNA damage response pathways at telomeres, by protecting single-stranded DNA (ssDNA) overhangs.1 Conserved oligonucleotide/oligosaccharide-binding (OB) domains in I POT1 i recognise specific ssDNA motifs with high affinity and are required for I POT1 i function.1 Acquired and inherited variants in I POT1 i that alter these OB folds are associated with longer telomeres due to disruption of shelterin function.2 Rare germline pathogenic variants in I POT1 i predispose to chronic leucocyte leukaemia (CLL), glioma, angiosarcoma, osteosarcoma, thyroid cancer, colorectal cancer and cutaneous melanoma (CM), collectively termed the POT1-tumour predisposition syndrome (POT1-TPDS; Fig 1). Proband II:1 was the only individual chosen for whole-genome sequencing (WGS) due to their extensive personal cancer history (MCC AUS244) to assess the burden of cancer risk alleles among individuals with multiple primary cancers. [Extracted from the article] |
| Databáze: |
Complementary Index |
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