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Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.

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Chase, Andrew Leung, William Tapper, William Jones, Amy V Knoops, Laurent [UCL] Cross, Nicholas C P

Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n=7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P<0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r=0.76; P=0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n=11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2015
Language Anglais
Journal information "Leukemia" - Vol. 29, no. 10, p. 2069-2074 (2015)
Peer reviewed yes
Publisher Nature Publishing Group ((United Kingdom) London)
issn 0887-6924
e-issn 1476-5551
Publication status Publié
Affiliations UCL - (SLuc) Service d'hématologie
UCL - SSS/DDUV/GECE - Génétique cellulaire
MESH Subject Chromosome Aberrations ; Myelodysplastic Syndromes ; Myeloproliferative Disorders ; Parents ; Polymorphism, Single Nucleotide ; Prognosis ; Uniparental Disomy ; Chromosomes, Human, Pair 14 ; DNA Methylation ; Exome ; Genomic Imprinting ; Heterozygote ; Homozygote ; Humans ; Mutation
Links
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Bibliographic reference Chase, Andrew ; Leung, William ; Tapper, William ; Jones, Amy V ; Knoops, Laurent ; et. al. Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.. In: Leukemia, Vol. 29, no. 10, p. 2069-2074 (2015)
Permanent URL http://hdl.handle.net/2078.1/172034