Lamin B receptor explained

Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene.[1] [2] [3]

Function

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localizes to the inner membrane of the nuclear envelope and anchors the lamina and the heterochromatin to the membrane. It may mediate the interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.

Clinical significance

There is evidence tying it to Greenberg dysplasia and Pelger-Huet anomaly.

Interactions

Lamin B receptor has been shown to interact with CBX3[4] and CBX5.[4] LBR also interacts with long non-coding RNA XIST in mouse cells and potentially assist the spreading XIST across X chromosome in differentiating female embryonic stem cells,[5] but it might be redundant for correct XCI in vivo.[6]

References

Further reading

Notes and References

  1. Schuler E, Lin F, Worman HJ . Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane . The Journal of Biological Chemistry . 269 . 15 . 11312–7 . April 1994 . 10.1016/S0021-9258(19)78127-7 . 8157663 . free .
  2. Holmer L, Pezhman A, Worman HJ . The human lamin B receptor/sterol reductase multigene family . Genomics . 54 . 3 . 469–76 . December 1998 . 9878250 . 10.1006/geno.1998.5615 . free .
  3. Web site: Entrez Gene: LBR lamin B receptor.
  4. Ye Q, Worman HJ . Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1 . The Journal of Biological Chemistry . 271 . 25 . 14653–6 . June 1996 . 8663349 . 10.1074/jbc.271.25.14653 . free .
  5. Chen CK, Blanco M, Jackson C, Aznauryan E, Ollikainen N, Surka C, Chow A, Cerase A, McDonel P, Guttman M . Xist recruits the X chromosome to the nuclear lamina to enable chromosome-wide silencing . Science . 354 . 6311 . 468–472 . October 2016 . 27492478 . 10.1126/science.aae0047 . 2016Sci...354..468C . free .
  6. Young . Alexander Neil . Perlas . Emerald . Ruiz-Blanes . Nerea . Hierholzer . Andreas . Pomella . Nicola . Martin-Martin . Belen . Liverziani . Alessandra . Jachowicz . Joanna W. . Giannakouros . Thomas . Cerase . Andrea . 2021-04-12 . Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation . Communications Biology . 4 . 1 . 478 . 10.1038/s42003-021-01944-2 . 33846535 . 8041748 . 2399-3642.