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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
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Keywords

Lamin Variable Expression Skeletal Dysplasia Skeletal Abnormality Syndactyly 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  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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