Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation

Young et al. report a new mouse model for Pelger-Huet anomaly, a genetic disorder caused by mutations in the Lamin B receptor gene (Lbr) that leads to abnormal neutrophil differentiation and skeletal defects. Using CRISPR/Cas-9 editing of Lbr, which has also been associated with X chromosome inactiv...

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Autores principales:	Alexander Neil Young, Emerald Perlas, Nerea Ruiz-Blanes, Andreas Hierholzer, Nicola Pomella, Belen Martin-Martin, Alessandra Liverziani, Joanna W. Jachowicz, Thomas Giannakouros, Andrea Cerase
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/a0388b7db1f045ad87ee722dcc675a86
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spelling	oai:doaj.org-article:a0388b7db1f045ad87ee722dcc675a862021-12-02T18:03:20ZDeletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation10.1038/s42003-021-01944-22399-3642https://doaj.org/article/a0388b7db1f045ad87ee722dcc675a862021-04-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-01944-2https://doaj.org/toc/2399-3642Young et al. report a new mouse model for Pelger-Huet anomaly, a genetic disorder caused by mutations in the Lamin B receptor gene (Lbr) that leads to abnormal neutrophil differentiation and skeletal defects. Using CRISPR/Cas-9 editing of Lbr, which has also been associated with X chromosome inactivation (XCI), they generate a mouse model that recapitulates the major phenotypes of the disease without majorly affecting XCI.Alexander Neil YoungEmerald PerlasNerea Ruiz-BlanesAndreas HierholzerNicola PomellaBelen Martin-MartinAlessandra LiverzianiJoanna W. JachowiczThomas GiannakourosAndrea CeraseNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Alexander Neil Young Emerald Perlas Nerea Ruiz-Blanes Andreas Hierholzer Nicola Pomella Belen Martin-Martin Alessandra Liverziani Joanna W. Jachowicz Thomas Giannakouros Andrea Cerase Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
description	Young et al. report a new mouse model for Pelger-Huet anomaly, a genetic disorder caused by mutations in the Lamin B receptor gene (Lbr) that leads to abnormal neutrophil differentiation and skeletal defects. Using CRISPR/Cas-9 editing of Lbr, which has also been associated with X chromosome inactivation (XCI), they generate a mouse model that recapitulates the major phenotypes of the disease without majorly affecting XCI.
format	article
author	Alexander Neil Young Emerald Perlas Nerea Ruiz-Blanes Andreas Hierholzer Nicola Pomella Belen Martin-Martin Alessandra Liverziani Joanna W. Jachowicz Thomas Giannakouros Andrea Cerase
author_facet	Alexander Neil Young Emerald Perlas Nerea Ruiz-Blanes Andreas Hierholzer Nicola Pomella Belen Martin-Martin Alessandra Liverziani Joanna W. Jachowicz Thomas Giannakouros Andrea Cerase
author_sort	Alexander Neil Young
title	Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
title_short	Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
title_full	Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
title_fullStr	Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
title_full_unstemmed	Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation
title_sort	deletion of lbr n-terminal domains recapitulates pelger-huet anomaly phenotypes in mouse without disrupting x chromosome inactivation
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a0388b7db1f045ad87ee722dcc675a86
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Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation

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