Jump to content

CSPG4

From Wikipedia, the free encyclopedia

CSPG4
Identifiers
AliasesCSPG4,HMW-MAA, MCSP, MCSPG, MEL-CSPG, MSK16, NG2, chondroitin sulfate proteoglycan 4, CSPG4A
External IDsOMIM:601172;MGI:2153093;HomoloGene:20445;GeneCards:CSPG4;OMA:CSPG4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001897

NM_139001

RefSeq (protein)

NP_001888

NP_620570

Location (UCSC)Chr 15: 75.67 – 75.71 MbChr 9: 56.77 – 56.81 Mb
PubMedsearch[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chondroitin sulfate proteoglycan 4,also known asmelanoma-associated chondroitin sulfate proteoglycan(MCSP) orneuron-glial antigen 2(NG2), is achondroitin sulfate proteoglycanthat in humans is encoded by theCSPG4gene.[5][6][7]

Function

[edit]

CSPG4 plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading onendothelialbasement membranes.It represents an integral membrane chondroitin sulfate proteoglycan expressed by humanmalignant melanomacells.[7]

Implications in disease

[edit]

CSPG4/NG2 is also a hallmark protein ofoligodendrocyte 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 inschizophrenia,reported, two raremissense mutationsinCSPG4gene,segregating within families (CSPG4A131TandCSPG4V901Gmutations). The researchers also demonstrate that theinduced pluripotent stem cells(iPSCs)-derived OPCs fromCSPG4A131Tmutation carriers exhibited abnormal post-translational processing, subcellular localization of the mutant NG2 protein, aberrant cellular morphology, and a decreased cell viability andmyelinationpotential.In vivodiffusion tensor imagingof the brain ofCSPG4A131Tmutation carriers demonstrated a reducedwhite matterintegrity compared to the unaffected sibling and matched general population controls.[10]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000173546Ensembl,May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000032911Ensembl,May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  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.PMC38494.PMID8790396.
  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.PMID16407841.S2CID39073910.
  7. ^ab"Entrez Gene: CSPG4 chondroitin sulfate proteoglycan 4".
  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.PMC2289079.PMID1906475.
  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.PMC6755981.PMID29302076.
  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.PMC6755981.PMID29302076.

Further reading

[edit]
[edit]