Neuron-glial_antigen_2

CSPG4

CSPG4

Protein-coding gene in the species Homo sapiens

Chondroitin sulfate proteoglycan 4, also known as melanoma-associated chondroitin sulfate proteoglycan (MCSP) or neuron-glial antigen 2 (NG2), is a chondroitin sulfate proteoglycan that in humans is encoded by the CSPG4 gene.[5][6][7]

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Function

CSPG4 plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. It represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells.[7]

Implications in disease

CSPG4/NG2 is also a hallmark protein of oligodendrocyte progenitor cells (OPCs)[8] and OPC dysfunction has been implicated as a candidate pathophysiological mechanism of familial schizophrenia.[9] A research group investigating the role of genetics in schizophrenia, reported, two rare missense mutations in CSPG4 gene, segregating within families (CSPG4A131T and CSPG4V901G mutations). The researchers also demonstrate that the induced pluripotent stem cells (iPSCs)-derived OPCs from CSPG4A131T mutation carriers exhibited abnormal post-translational processing, subcellular localization of the mutant NG2 protein, aberrant cellular morphology, and a decreased cell viability and myelination potential. In vivo diffusion tensor imaging of the brain of CSPG4A131T mutation carriers demonstrated a reduced white matter integrity compared to the unaffected sibling and matched general population controls.[10]

See also

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000173546 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000032911 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    Pluschke G, Vanek M, Evans A, Dittmar T, Schmid P, Itin P, Filardo EJ, Reisfeld RA (September 1996). "Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan". Proceedings of the National Academy of Sciences of the United States of America. 93 (18): 9710–5. Bibcode:1996PNAS...93.9710P. doi:10.1073/pnas.93.18.9710. PMC 38494. PMID 8790396.
  6. [6]
    Luo W, Wang X, Kageshita T, Wakasugi S, Karpf AR, Ferrone S (May 2006). "Regulation of high molecular weight-melanoma associated antigen (HMW-MAA) gene expression by promoter DNA methylation in human melanoma cells". Oncogene. 25 (20): 2873–84. doi:10.1038/sj.onc.1209319. PMID 16407841. S2CID 39073910.
  7. [7]
    "Entrez Gene: CSPG4 chondroitin sulfate proteoglycan 4".
  8. [8]
    Nishiyama A, Dahlin KJ, Prince JT, Johnstone SR, Stallcup WB (July 1991). "The primary structure of NG2, a novel membrane-spanning proteoglycan". The Journal of Cell Biology. 114 (2): 359–71. doi:10.1083/jcb.114.2.359. PMC 2289079. PMID 1906475.
  9. [9]
    de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia". Molecular Psychiatry. 24 (5): 757–771. doi:10.1038/s41380-017-0004-2. PMC 6755981. PMID 29302076.
  10. [10]
    de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia". Molecular Psychiatry. 24 (5): 757–771. doi:10.1038/s41380-017-0004-2. PMC 6755981. PMID 29302076.

Further reading

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