GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma

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dc.contributor.authorNord, Karolin H.
dc.contributor.authorLilljebjörn, Henrik
dc.contributor.authorVezzi, Francesco
dc.contributor.authorNilsson, Jenny
dc.contributor.authorMagnusson, Linda
dc.contributor.authorTayebwa, Johnbosco
dc.contributor.authorJong, Danielle de
dc.contributor.authorBovée, Judith V. M. G.
dc.contributor.authorHogendoorn, Pancras C. W.
dc.contributor.authorSzuhai, Karoly
dc.date.accessioned2022-11-30T12:19:36Z
dc.date.available2022-11-30T12:19:36Z
dc.date.issued2014
dc.description.abstractGlutamate receptors are well-known actors in the central and peripheral nervous systems, and altered glutamate signaling is implicated in several neurological and psychiatric disorders. It is increasingly recognized that such receptors may also have a role in tumor growth. Here we provide direct evidence of aberrant glutamate signaling in the development of a locally aggressive bone tumor, chondromyxoid fibroma (CMF). We subjected a series of CMFs to whole-genome mate-pair sequencing and RNA sequencing and found that the glutamate receptor gene GRM1 recombines with several partner genes through promoter swapping and gene fusion events. The GRM1 coding region remains intact, and 18 of 20 CMFs (90%) showed a more than 100-fold and up to 1,400-fold increase in GRM1 expression levels compared to control tissues. Our findings unequivocally demonstrate that direct targeting of GRM1 is a necessary and highly specific driver event for CMF development.en_US
dc.identifier.citationNord, K. H., Lilljebjörn, H., Vezzi, F., Nilsson, J., Magnusson, L., Tayebwa, J., ... & Szuhai, K. (2014). GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma. Nature genetics, 46(5), 474-477. doi:10.1038/ng.2927en_US
dc.identifier.other10.1038/ng.2927
dc.identifier.urihttps://nru.uncst.go.ug/handle/123456789/5553
dc.language.isoenen_US
dc.publisherNature geneticsen_US
dc.subjectGRM1en_US
dc.subjectGene fusionen_US
dc.subjectChondromyxoid fibromaen_US
dc.titleGRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibromaen_US
dc.typeArticleen_US
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