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  • Chase, AndrewUniv Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England (författare)

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia

  • Artikel/kapitelEngelska2019

Förlag, utgivningsår, omfång ...

  • 2018-12-20
  • Springer Science and Business Media LLC,2019
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-383506
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-383506URI
  • https://doi.org/10.1038/s41375-018-0340-5DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Pellagatti, AndreaUniv Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England (författare)
  • Singh, ShaliniUniv Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England (författare)
  • Score, JoannahUniv Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England (författare)
  • Tapper, William J.Univ Southampton, Fac Med, Southampton, Hants, England (författare)
  • Lin, FengUniv Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England (författare)
  • Hoade, YvetteUniv Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England (författare)
  • Bryant, CatherineUniv Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England (författare)
  • Trim, NicolaBirmingham Womens NHS Fdn Trust, West Midlands Reg Genet Lab, Birmingham, W Midlands, England (författare)
  • Yip, Bon HamUniv Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England (författare)
  • Zoi, KaterinaAcad Athens, Biomed Res Fdn, Haematol Res Lab, Athens, Greece (författare)
  • Rasi, ChiaraUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)chira497 (författare)
  • Forsberg, Lars A.,1974-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Beijer Laboratory of Genome Research, Uppsala University,Uppsala, Sweden(Swepub:uu)larfo354 (författare)
  • Dumanski, Jan P.Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)janduman (författare)
  • Boultwood, JacquelineUniv Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England (författare)
  • 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 (författare)
  • Univ Southampton, Fac Med, Southampton, Hants, England;Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, EnglandUniv Oxford, Oxford BRC Haematol Theme, Bloodwise Mol Haematol Unit, Nuffield Div Clin Lab Sci,Radcliffe Dept Med, Oxford, England (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Leukemia: Springer Science and Business Media LLC33:5, s. 1184-11940887-69241476-5551

Internetlänk

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  • Leukemia (Sök värdpublikationen i LIBRIS)

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