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The diverse consequences of BCOR mutations during development and in cancer

Velde, Pieter Alje, te (2024) The diverse consequences of BCOR mutations during development and in cancer. Bachelor's Thesis, Biology.

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BCL-6 interacting corepressor (BCOR) is a protein that is part of the Polycomb Repressive Complex 1.1 (PRC1.1). This epigenetic regulatory complex is mostly repressing target gene expression but is also targeting active genes. by monoubiquitylation of H2AK119]. BCOR plays a key role in bringing the catalytic side and the chromatin binding site of the PRC1.1 together. Cells that carry mutations, internal tandem repeats, or have gene fusions are often found in diseases. These disease can range from cancers later on in life or Oculofaciocardiodental syndrome (OFCD). This thesis aims to describe the role of BCOR in development and disease and look specifically at BCOR mutations in leukemia. Analyses of Acute Myeloid Leukemia (AML) cells revealed that mutations of BCOR have a worse prognosis then those without the mutations. BCOR seems to play a major role in leukemia acting as a tumor suppressor. Mutations in BCOR are therefore typically loss of function mutations leading to PRC1.1 dysfunction. These mutations are likely to result in myeloid skewing during hematopoietic development. However, a second mutation in the TET2 gene is required to induce MDS. . However, when combined with other certain other mutations increased sensitivity is seen to some treatments. Taken together, in this thesis the essential role of BCOR in development and blood cell development is highlighted and how loss-of-function mutations contribute to the pathogenesis of hematological related cancers.

Item Type: Thesis (Bachelor's Thesis)
Supervisor name: Boom, V. van den
Degree programme: Biology
Thesis type: Bachelor's Thesis
Language: English
Date Deposited: 29 Apr 2024 10:25
Last Modified: 29 Apr 2024 10:25

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