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 journalArticle

163 Citations (Scopus)

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 1 2011

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Gray Platelet Syndrome
Blood Platelets
Megakaryocytes
Subcellular Fractions
Endoplasmic Reticulum
Proteomics
Sucrose
Hemorrhage
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Gunay-Aygun, M., Falik-Zaccai, T. C., Vilboux, T., Zivony-Elboum, Y., Gumruk, F., Cetin, M., ... Gahl, W. A. (2011). NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet γ-granules. Nature Genetics, 43(8), 732-734. https://doi.org/10.1038/ng.883
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. / NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet γ-granules. In: Nature Genetics. 2011 ; Vol. 43, No. 8. pp. 732-734.
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Gunay-Aygun, M, Falik-Zaccai, TC, Vilboux, T, Zivony-Elboum, Y, Gumruk, F, Cetin, M, Khayat, M, Boerkoel, CF, Kfir, N, Huang, Y, Maynard, D, Dorward, H, Berger, K, Kleta, R, Anikster, Y, Arat, M, Freiberg, AS, Kehrel, BE, Jurk, K, Cruz, P, Mullikin, JC, White, JG, Huizing, M & Gahl, WA 2011, 'NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet γ-granules', Nature Genetics, vol. 43, no. 8, pp. 732-734. https://doi.org/10.1038/ng.883

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

In: Nature Genetics, Vol. 43, No. 8, 01.08.2011, p. 732-734.

Research output: Contribution to journalArticle

TY - JOUR

T1 - NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet γ-granules

AU - Gunay-Aygun, Meral

AU - Falik-Zaccai, Tzipora C.

AU - Vilboux, Thierry

AU - Zivony-Elboum, Yifat

AU - Gumruk, Fatma

AU - Cetin, Mualla

AU - Khayat, Morad

AU - Boerkoel, Cornelius F.

AU - Kfir, Nehama

AU - Huang, Yan

AU - Maynard, Dawn

AU - Dorward, Heidi

AU - Berger, Katherine

AU - Kleta, Robert

AU - Anikster, Yair

AU - Arat, Mutlu

AU - Freiberg, Andrew S.

AU - Kehrel, Beate E.

AU - Jurk, Kerstin

AU - Cruz, Pedro

AU - Mullikin, Jim C.

AU - White, James G.

AU - Huizing, Marjan

AU - Gahl, William A.

PY - 2011/8/1

Y1 - 2011/8/1

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Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet γ-granules. Nature Genetics. 2011 Aug 1;43(8):732-734. https://doi.org/10.1038/ng.883