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Article

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

Communications biology - 12 Apr 2021

Young Alexander Neil, Perlas Emerald, Ruiz-Blanes Nerea, Hierholzer Andreas, Pomella Nicola, Martin-Martin Belen, Liverziani Alessandra, Jachowicz Joanna W, Giannakouros Thomas, Cerase Andrea

Abstract excerpt

Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reductase activity, have been linked to rare human disorders. Phenotypes range from a benign blood disorder, such as Pelger-Huet anomaly (PHA), affecting the morphology and chromatin organization of white blood cells, to embryonic lethality as for Greenberg dysplasia (GRBGD). Existing PHA mouse models do not fully...

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Identifiers

PMID: 33846535
DOI: 10.1038/s42003-021-01944-2
PMCID: PMC8041748

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