biostudies-literatureUnknown1(2)Gravemann SThe Lamin B receptor (LBR) is a pivotal architectural protein in the nuclear envelope. Mutations in the Lamin B receptor lead to nuclear hyposegmentation (Pelger-Huët anomaly). We have exactly quantified the nuclear lobulation in neutrophils from individuals with 0, 1, 2 and 3 functional copies of the lamin B receptor gene and analyzed the effect of different mutation types. Our data demonstrate that there is a highly significant gene-dosage effect between the gene copy number and the nuclear segmentation index of neutrophils. This finding is paralleled by a dose-dependent increase in LBR protein and staining intensity of the nuclear membrane in corresponding lymphoblastoid cell lines, which demonstrates a significant correlation on the protein level as well. We further show that LBR expreNucleus (Austin, Tex.)179-89https://www.ebi.ac.uk/biostudies/studies/S-EPMC3030694biostudies-literatureDosage effect of zero to three functional LBR-genes in vivo and in vitro.PMC3030694Vaya AMeyer HSperling KSchnipper NNeitzel HNowaczyk MJTonnies HHoffmann KRajab AGravemann SHofmann WKStassen HHSalewsky BfalseDosage effect of zero to three functional LBR-genes in vivo and in vitro.The Lamin B receptor (LBR) is a pivotal architectural protein in the nuclear envelope. Mutations in the Lamin B receptor lead to nuclear hyposegmentation (Pelger-Huët anomaly). We have exactly quantified the nuclear lobulation in neutrophils from individuals with 0, 1, 2 and 3 functional copies of the lamin B receptor gene and analyzed the effect of different mutation types. Our data demonstrate that there is a highly significant gene-dosage effect between the gene copy number and the nuclear segmentation index of neutrophils. This finding is paralleled by a dose-dependent increase in LBR protein and staining intensity of the nuclear membrane in corresponding lymphoblastoid cell lines, which demonstrates a significant correlation on the protein level as well. We further show that LBR expre2010-01-01T00:00:00Z2010 Mar-Apr2026-04-16T21:18:23.124Z2026-04-07T14:18:11.044ZS-EPMC30306942132695010.4161/nucl.1111310.4161/nucl.1.2.11113