GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.
(2014) In Nature Genetics 46(5). p.474-477- Abstract
- Glutamate 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... (More)
- Glutamate 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4379886
- author
- Hansén Nord, Karolin
LU
; Lilljebjörn, Henrik
LU
; Vezzi, Francesco ; Nilsson, Jenny LU ; Magnusson, Linda LU ; Tayebwa, Johnbosco LU ; de Jong, Danielle ; Bovée, Judith V M G ; Hogendoorn, Pancras C W and Szuhai, Karoly
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 46
- issue
- 5
- pages
- 474 - 477
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:24658000
- wos:000335422900014
- scopus:84899655771
- pmid:24658000
- ISSN
- 1546-1718
- DOI
- 10.1038/ng.2927
- language
- English
- LU publication?
- yes
- id
- 5a2dd6e2-ef7c-492e-9833-9a282f71621e (old id 4379886)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/24658000?dopt=Abstract
- date added to LUP
- 2016-04-01 10:10:37
- date last changed
- 2022-04-19 23:24:07
@article{5a2dd6e2-ef7c-492e-9833-9a282f71621e, abstract = {{Glutamate 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.}}, author = {{Hansén Nord, Karolin and Lilljebjörn, Henrik and Vezzi, Francesco and Nilsson, Jenny and Magnusson, Linda and Tayebwa, Johnbosco and de Jong, Danielle and Bovée, Judith V M G and Hogendoorn, Pancras C W and Szuhai, Karoly}}, issn = {{1546-1718}}, language = {{eng}}, number = {{5}}, pages = {{474--477}}, publisher = {{Nature Publishing Group}}, series = {{Nature Genetics}}, title = {{GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.}}, url = {{http://dx.doi.org/10.1038/ng.2927}}, doi = {{10.1038/ng.2927}}, volume = {{46}}, year = {{2014}}, }