RNA-seq analysis of megakaryocytes and granulocytes in Quebec platelet disorder

Quebec Platelet disorder (QPD) is a unique bleeding disorder that markedly increases urokinase plasminogen activator (uPA) in megakaryocytes and platelets but not in plasma or urine. The cause is tandem duplication of a 77 kb region of chromosome 10 containing PLAU and C10orf55. Blood cells and cultured megakaryocytes from donors (7 QPD, 10 control subjects) were prepared for total and allele-specific, quantitative reverse transcription polymerase chain reaction, immunoassays, Western blots and RNA-seq. Transcriptomes for cultured megakaryocytes and peripheral blood granulocytes from 4 control and 3 QPD individuals were analyzed using mRNA-seq.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

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Dataset ID	Description	Technology	Samples
EGAD00001006053	RNA-seq was performed on cultured megakaryocytes and peripheral-blood derived granulocytes from individuals with QPD and a unaffected controls. Each group consisted of n=3 biological replicates.	Illumina HiSeq 2500	12

Publications	Citations
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. Hayward CP, Liang M, Tasneem S, Soomro A, Waye JS, Paterson AD, Rivard GE, Wilson MD. PLoS One 12: 2017 e0173991	13
Thrombin generation abnormalities in Quebec platelet disorder. Brunet JG, Sharma T, Tasneem S, Liang M, Wilson MD, Rivard GE, Hayward CPM. Int J Lab Hematol 42: 2020 801-809	4