Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes

Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes Publisher Pubmed

Linder MI¹ ; Mizoguchi Y^{1, 12} ; Hesse S¹ ; Csaba G³ ; Tatematsu M¹ ; Lyszkiewicz M¹ ; Zietara N¹ ; Jeske T^{1, 4} ; Hastreiter M¹ ; Rohlfs M¹ ; Liu Y^{1, 5} ; Grabowski P⁶ ; Ahomaa K⁴ ; Maierbegandt D⁷ Show All Authors

Linder MI¹
Mizoguchi Y^{1, 12}
Hesse S¹
Csaba G³
Tatematsu M¹
Lyszkiewicz M¹
Zietara N¹
Jeske T^{1, 4}
Hastreiter M¹
Rohlfs M¹
Liu Y^{1, 5}
Grabowski P⁶
Ahomaa K⁴
Maierbegandt D⁷
Schwestka M⁸
Pazhakh V^{8, 9}
Isiaku AI⁸
Briones Miranda B⁸
Blombery P⁹
Saito MK¹⁰
Rusha E²
Alizadeh Z¹¹
Pourpak Z¹¹
Kobayashi M¹²
Rezaei N¹³
Unal E¹⁴
Hauck F¹
Drukker M²
Walzog B⁷
Rappsilber J⁶
Zimmer R³
Lieschke GJ⁸
Klein C¹

Source: Blood Published:2023

Abstract

The mechanisms of coordinated changes in proteome composition and their relevance for the differentiation of neutrophil granulocytes are not well studied. Here, we discover 2 novel human genetic defects in signal recognition particle receptor alpha (SRPRA) and SRP19, constituents of the mammalian cotranslational targeting machinery, and characterize their roles in neutrophil granulocyte differentiation. We systematically study the proteome of neutrophil granulocytes from patients with variants in the SRP genes, HAX1, and ELANE, and identify global as well as specific proteome aberrations. Using in vitro differentiation of human induced pluripotent stem cells and in vivo zebrafish models, we study the effects of SRP deficiency on neutrophil granulocyte development. In a heterologous cell–based inducible protein expression system, we validate the effects conferred by SRP dysfunction for selected proteins that we identified in our proteome screen. Thus, SRP-dependent protein processing, intracellular trafficking, and homeostasis are critically important for the differentiation of neutrophil granulocytes. © 2023 The American Society of Hematology

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Style	Citing Format
MLA	Linder MI, et al.. "Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes." Blood, vol. 141, no. 6, 2023, pp. 645-658.
APA	Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Lyszkiewicz M, Zietara N, Jeske T, Hastreiter M, Rohlfs M, Liu Y, Grabowski P, Ahomaa K, Maierbegandt D, Schwestka M, Pazhakh V, Isiaku AI, Briones Miranda B, Blombery P, ... Klein C (2023). Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes. Blood, 141(6), 645-658.
Chicago	Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Lyszkiewicz M, Zietara N, et al.. "Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes." Blood 141, no. 6 (2023): 645-658.
Harvard	Linder MI et al. (2023) 'Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes', Blood, 141(6), pp. 645-658.
Vancouver	Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Lyszkiewicz M, et al.. Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes. Blood. 2023;141(6):645-658.
BibTex	@article{ author = {Linder MI and Mizoguchi Y and Hesse S and Csaba G and Tatematsu M and Lyszkiewicz M and Zietara N and Jeske T and Hastreiter M and Rohlfs M and Liu Y and Grabowski P and Ahomaa K and Maierbegandt D and Schwestka M and Pazhakh V and Isiaku AI and Briones Miranda B and Blombery P and Saito MK and Rusha E and Alizadeh Z and Pourpak Z and Kobayashi M and Rezaei N and Unal E and Hauck F and Drukker M and Walzog B and Rappsilber J and Zimmer R and Lieschke GJ and Klein C}, title = {Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes}, journal = {Blood}, volume = {141}, number = {6}, pages = {645-658}, year = {2023} }
RIS	TY - JOUR AU - Linder MI AU - Mizoguchi Y AU - Hesse S AU - Csaba G AU - Tatematsu M AU - Lyszkiewicz M AU - Zietara N AU - Jeske T AU - Hastreiter M AU - Rohlfs M AU - Liu Y AU - Grabowski P AU - Ahomaa K AU - Maierbegandt D AU - Schwestka M AU - Pazhakh V AU - Isiaku AI AU - Briones Miranda B AU - Blombery P AU - Saito MK AU - Rusha E AU - Alizadeh Z AU - Pourpak Z AU - Kobayashi M AU - Rezaei N AU - Unal E AU - Hauck F AU - Drukker M AU - Walzog B AU - Rappsilber J AU - Zimmer R AU - Lieschke GJ AU - Klein C TI - Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes JO - Blood VL - 141 IS - 6 SP - 645 EP - 658 PY - 2023 ER -

Style

Citing Format

MLA

Linder MI, et al.. "Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes." Blood, vol. 141, no. 6, 2023, pp. 645-658.

APA

Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Lyszkiewicz M, Zietara N, Jeske T, Hastreiter M, Rohlfs M, Liu Y, Grabowski P, Ahomaa K, Maierbegandt D, Schwestka M, Pazhakh V, Isiaku AI, Briones Miranda B, Blombery P, ... Klein C (2023). Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes. Blood, 141(6), 645-658.

Chicago

Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Lyszkiewicz M, Zietara N, et al.. "Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes." Blood 141, no. 6 (2023): 645-658.

Harvard

Linder MI et al. (2023) 'Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes', Blood, 141(6), pp. 645-658.

Vancouver

Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Lyszkiewicz M, et al.. Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes. Blood. 2023;141(6):645-658.

BibTex

@article{ author = {Linder MI and Mizoguchi Y and Hesse S and Csaba G and Tatematsu M and Lyszkiewicz M and Zietara N and Jeske T and Hastreiter M and Rohlfs M and Liu Y and Grabowski P and Ahomaa K and Maierbegandt D and Schwestka M and Pazhakh V and Isiaku AI and Briones Miranda B and Blombery P and Saito MK and Rusha E and Alizadeh Z and Pourpak Z and Kobayashi M and Rezaei N and Unal E and Hauck F and Drukker M and Walzog B and Rappsilber J and Zimmer R and Lieschke GJ and Klein C}, title = {Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes}, journal = {Blood}, volume = {141}, number = {6}, pages = {645-658}, year = {2023} }

RIS

TY - JOUR
AU - Linder MI
AU - Mizoguchi Y
AU - Hesse S
AU - Csaba G
AU - Tatematsu M
AU - Lyszkiewicz M
AU - Zietara N
AU - Jeske T
AU - Hastreiter M
AU - Rohlfs M
AU - Liu Y
AU - Grabowski P
AU - Ahomaa K
AU - Maierbegandt D
AU - Schwestka M
AU - Pazhakh V
AU - Isiaku AI
AU - Briones Miranda B
AU - Blombery P
AU - Saito MK
AU - Rusha E
AU - Alizadeh Z
AU - Pourpak Z
AU - Kobayashi M
AU - Rezaei N
AU - Unal E
AU - Hauck F
AU - Drukker M
AU - Walzog B
AU - Rappsilber J
AU - Zimmer R
AU - Lieschke GJ
AU - Klein C
TI - Human Genetic Defects in Srp19 and Srpra Cause Severe Congenital Neutropenia With Distinctive Proteome Changes
JO - Blood
VL - 141
IS - 6
SP - 645
EP - 658
PY - 2023
ER -

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