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  • 1.
    Chase, Andrew
    et al.
    Univ Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England.
    Pellagatti, Andrea
    Univ Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England.
    Singh, Shalini
    Univ Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England.
    Score, Joannah
    Univ Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England.
    Tapper, William J.
    Univ Southampton, Fac Med, Southampton, Hants, England.
    Lin, Feng
    Univ Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England.
    Hoade, Yvette
    Univ Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England.
    Bryant, Catherine
    Univ Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England.
    Trim, Nicola
    Birmingham Womens NHS Fdn Trust, West Midlands Reg Genet Lab, Birmingham, W Midlands, England.
    Yip, Bon Ham
    Univ Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England.
    Zoi, Katerina
    Acad Athens, Biomed Res Fdn, Haematol Res Lab, Athens, Greece.
    Rasi, Chiara
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Forsberg, Lars A.
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Beijer Laboratory of Genome Research, Uppsala University,Uppsala, Sweden.
    Dumanski, Jan P.
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Boultwood, Jacqueline
    Univ Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England.
    Cross, Nicholas C. P.
    Univ Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England.
    PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia2019In: Leukemia, ISSN 0887-6924, E-ISSN 1476-5551, Vol. 33, no 5, p. 1184-1194Article in journal (Refereed)
    Abstract [en]

    Acquired uniparental disomy (aUPD, also known as copy-neutral loss of heterozygosity) is a common feature of cancer cells and characterized by extended tracts of somatically-acquired homozygosity without any concurrent loss or gain of genetic material. The presumed genetic targets of many regions of aUPD remain unknown. Here we describe the association of chromosome 22 aUPD with mutations that delete the C-terminus of PRR14L in patients with chronic myelomonocytic leukemia (CMML), related myeloid neoplasms and age-related clonal hematopoiesis (ARCH). Myeloid panel analysis identified a median of three additional mutated genes (range 1-6) in cases with a myeloid neoplasm (n = 8), but no additional mutations in cases with ARCH (n = 2) suggesting that mutated PRR14L alone may be sufficient to drive clonality. PRR14L has very limited homology to other proteins and its function is unknown. ShRNA knockdown of PRR14L in human CD34+ cells followed by in vitro growth and differentiation assays showed an increase in monocytes and decrease in neutrophils, consistent with a CMML-like phenotype. RNA-Seq and cellular localization studies suggest a role for PRR14L in cell division. PRR14L is thus a novel, biallelically mutated gene and potential founding abnormality in myeloid neoplasms.

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