Journal of Biosciences

, Volume 29, Issue 4, pp 367–368 | Cite as

Benign anomaly to malign dysplasia: Variable expression of lamin B receptor mutations in humans

  • Durgadas P. Kasbekar


Lamin Variable Expression Skeletal Dysplasia Skeletal Abnormality Syndactyly 
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  1. Hoffmann K, Dreger C K, Olins A L,et al 2002 Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly);Nature Genet. 31 410–414PubMedGoogle Scholar
  2. Oosterwijk J C, Mansour S, van Noort G,et al 2003 Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes;J. Med. Genet. 40 937–941PubMedCrossRefGoogle Scholar
  3. Papavinasasundaram K G and Kasbekar D P 1994 TheNeurospora crassa erg-3 gene encodes a protein with sequence homology to both yeast sterol C-14 reductase and chicken lamin B receptor;J. Genet. 73 33–41CrossRefGoogle Scholar
  4. Prakash A, Sengupta S, Aparna K and Kasbekar D P 1999 Theerg-3 (sterol Δ14,15-reductase) gene ofNeurospora crassa: generation of null mutants by repeat-induced point mutation and complementation by proteins chimeric for human lamin B receptor sequences;Microbiology 145 1443–1451PubMedCrossRefGoogle Scholar
  5. Prakash A and Kasbekar D P 2002 Genes encoding chimeras ofNeurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants;J. Biosci. 27 105–112PubMedCrossRefGoogle Scholar
  6. Roberti R, Bennati A M, Galli G, Caruso D,et al 2002 Cloning and expression of sterol Δ14-reductase from bovine liver;Eur. J. Biochem. 269 283–290PubMedCrossRefGoogle Scholar
  7. Shultz L D, Lyons B L, Burzenski L M,et al 2003 Mutations in the mouseichthyosis locus are within the lamin B receptor gene: a single-gene model for human Pelger-Huet anomaly;Hum. Mol. Genet. 12 61–69PubMedCrossRefGoogle Scholar
  8. Waterham H R, Koster J, Mooyer P,et al 2003 Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3β-hydroxysterol Δ14-reductase deficiency due to mutations in the lamin B receptor gene;Am. J. Hum. Genet. 72 1013–1017PubMedCrossRefGoogle Scholar

Copyright information

© Indian Academy of Sciences 2004

Authors and Affiliations

  • Durgadas P. Kasbekar
    • 1
  1. 1.Centre for Cellular and Molecular BiologyHyderabadIndia

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