NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet [alpha]-granules

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet [alpha]-granules

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-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 ind...

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Veröffentlicht in:Nature genetics 2011-08, Vol.43 (8), p.732
Hauptverfasser: Gunay-Aygun, Meral, Falik-Zaccai, Tzipora C, Vilboux, Thierry, Zivony-Elboum, Yifat, Gumruk, Fatma, Cetin, Mualla, Khayat, Morad, Boerkoel, Cornelius F, Kfir, Nehama, Huang, Yan, Maynard, Dawn, Dorward, Heidi, Berger, Katherine, Kleta, Robert, Anikster, Yair, Arat, Mutlu, Freiberg, Andrew S, Kehrel, Beate E, Jurk, Kerstin, Cruz, Pedro, Mullikin, Jim C, White, James G, Huizing, Marjan, Gahl, William A
Format: Artikel
Sprache:eng
Schlagworte:
Biosynthesis
Genomes
Hemophilia
Mass spectrometry
Mutation
Proteins
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Zusammenfassung:Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-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. [PUBLICATION ABSTRACT]
ISSN:1061-4036
1546-1718