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Genetic and regulat...
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Studd, James B.Institute of Cancer Research London
(författare)
Genetic and regulatory mechanism of susceptibility to high-hyperdiploid acute lymphoblastic leukaemia at 10p21.2
- Artikel/kapitelEngelska2017
Förlag, utgivningsår, omfång ...
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2017-03-03
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Springer Science and Business Media LLC,2017
Nummerbeteckningar
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LIBRIS-ID:oai:lup.lub.lu.se:e77f9af1-641c-4369-9c48-bb4dad0ae268
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https://lup.lub.lu.se/record/e77f9af1-641c-4369-9c48-bb4dad0ae268URI
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https://doi.org/10.1038/ncomms14616DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
Anmärkningar
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Despite high-hyperdiploid acute lymphoblastic leukaemia (HD-ALL) being the most common subgroup of paediatric ALL, its aetiology remains unknown. Genome-wide association studies have demonstrated association at 10q21.2. Here, we sought to determine how this region influences HD-ALL risk. We impute genotypes across the locus, finding the single nucleotide polymorphism rs7090445 highly associated with HD-ALL (P=1.54 × 10'38), and residing in a predicted enhancer element. We show this region physically interacts with the transcription start site of ARID5B, that alleles of rs7090445 have differential enhancer activity and influence RUNX3 binding. RUNX3 knock-down reduces ARID5B expression and rs7090445 enhancer activity. Individuals carrying the rs7090445-C risk allele also have reduced ARID5B expression. Finally, the rs7090445-C risk allele is preferentially retained in HD-ALL blasts consistent with inherited genetic variation contributing to arrest of normal lymphocyte development, facilitating leukaemic clonal expansion. These data provide evidence for a biological mechanism underlying hereditary risk of HD-ALL at 10q21.2.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Vijayakrishnan, JayaramInstitute of Cancer Research London
(författare)
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Yang, MinjunLund University,Lunds universitet,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,Aneuploidy in cancer,Lund University Research Groups(Swepub:lu)mi3441ya
(författare)
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Migliorini, GabrieleInstitute of Cancer Research London
(författare)
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Paulsson, KajsaLund University,Lunds universitet,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,Aneuploidy in cancer,Lund University Research Groups(Swepub:lu)kgen-kpa
(författare)
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Houlston, Richard S.Institute of Cancer Research London
(författare)
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Institute of Cancer Research LondonAneuploidi i cancer
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Nature Communications: Springer Science and Business Media LLC82041-1723
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