A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. (Articolo in rivista) (literal)

Anno

• 2012-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1182/blood-2012-01-401893 (literal)

Alternative label

• Nurnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K, Thon JN, Lloyd-Jones H, Sambrook JG, Tijssen MR; HaemGen Consortium, Italiano JE Jr, Deloukas P, Gottgens B, Soranzo N, Ouwehand WH. (2012)
  A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.
  in Blood
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Nurnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K, Thon JN, Lloyd-Jones H, Sambrook JG, Tijssen MR; HaemGen Consortium, Italiano JE Jr, Deloukas P, Gottgens B, Soranzo N, Ouwehand WH. (literal)

Pagina inizio

• 4859 (literal)

Pagina fine

• 4568 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://bloodjournal.hematologylibrary.org/content/120/24/4859.long (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 120 (literal)

Rivista

• Blood (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 24 (literal)

Note

• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Haematology, University of Cambridge and National Health Service Blood and Transplant, Cambridge, United Kingdom; Biostatistics Unit, Medical Research Council, Cambridge, United Kingdom; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, United Kingdom; Division of Hematology, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Harvard Medical School, Boston, MA; Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom; and; Vascular Biology Program, Department of Surgery, Children's Hospital, Boston, MA (literal)

Titolo

• A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. (literal)

Abstract

• We recently identified 68 genomic loci where common sequence variants are associated with platelet count and volume. Platelets are formed in the bone marrow by megakaryocytes, which are derived from hematopoietic stem cells by a process mainly controlled by transcription factors. The homeobox transcription factor MEIS1 is uniquely transcribed in megakaryocytes and not in the other lineage-committed blood cells. By ChIP-seq, we show that 5 of the 68 loci pinpoint a MEIS1 binding event within a group of 252 MK-overexpressed genes. In one such locus in DNM3, regulating platelet volume, the MEIS1 binding site falls within a region acting as an alternative promoter that is solely used in megakaryocytes, where allelic variation dictates different levels of a shorter transcript. The importance of dynamin activity to the latter stages of thrombopoiesis was confirmed by the observation that the inhibitor Dynasore reduced murine proplatelet for-mation in vitro. (literal)

Prodotto di

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• Institute of population genetics (IGP) (Istituto)
• Institute of molecular genetics (IGM) (Istituto)
• Biologia Computazionale (ME.P07.005.001) (Modulo)

Autore CNR

• MARINA CIULLO (Persona)
• GINEVRA BIINO (Persona)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• Biologia Computazionale (ME.P07.005.001) (Modulo)
• Institute of population genetics (IGP) (Istituto)

Autore CNR di

• GINEVRA BIINO (Persona)
• MARINA CIULLO (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Blood (Rivista)