NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet γ-granules

Meral Gunay-Aygun, Tzipora C. Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat, Cornelius F. Boerkoel, Nehama Kfir, Yan Huang, Dawn Maynard, Heidi Dorward, Katherine Berger, Robert Kleta, Yair Anikster, Mutlu Arat, Andrew S. Freiberg, Beate E. Kehrel, Kerstin Jurk, Pedro CruzJim C. Mullikin, James G. White, Marjan Huizing, William A. Gahl

Research output: Contribution to journalArticlepeer-review

175 Scopus citations

Abstract

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack γ-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets.

Original languageEnglish (US)
Pages (from-to)732-734
Number of pages3
JournalNature Genetics
Volume43
Issue number8
DOIs
StatePublished - Aug 2011

All Science Journal Classification (ASJC) codes

  • Genetics

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