title: Lonely in Paris: when one gene copy isn't enough.
abstract: Circulating platelets are continually replenished by fragmentation of terminally differentiated megakaryocytes. Processes disrupted in inherited thrombocytopenias frequently shed light on normal thrombopoietic mechanisms. An especially rare condition called Paris-Trousseau syndrome (PTS) seems to occur by virtue of hemizygous loss of the FLI1 transcription factor gene. Provocative new data suggest that FLI1 shows monoallelic expression during a brief window in megakaryocyte differentiation, which thus explains the dominant inheritance pattern of PTS despite the presence of one normal FLI1 allele.
authors.affiliation: Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA. ramesh_shivdasani@dfci.harvard.edu
authors.forename: Ramesh A
authors.initials: RA
authors.lastname: Shivdasani
mesh_terms: D002454:Cell Differentiation; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008533:Megakaryocytes / Q000473:pathology / Q000502:physiology; D051789:Proto-Oncogene Protein c-fli-1; D013577:Syndrome; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C078433:FLI1 protein, human; D051789:Proto-Oncogene Protein c-fli-1; D015534:Trans-Activators