Lonely in Paris: when one gene copy isn't enough

The Journal of Clinical Investigation
R A Shivdasani

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.

References

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Nov 5, 2003·Thrombosis and Haemostasis·Remi FavierElisabeth M Cramer
Jul 3, 2004·The Journal of Clinical Investigation·Hana RaslovaRémi Favier

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Citations

Sep 28, 2010·Qualitative Health Research·Hans Hadders

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