Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

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Fältnamn	Indikatorer	Metadata
000		04957naa a2200889 4500
001		oai:DiVA.org:uu-223942
003		SwePub
008		140428s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2239422 URI
024	7	a https://doi.org/10.1093/hmg/ddu1482 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Flex, Elisabetta4 aut
245	1 0	a Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
264		c 2014-04-04
264	1	b Oxford University Press (OUP),c 2014
338		a print2 rdacarrier
520		a RASopathies, a family of disorders characterized by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and predisposition to certain malignancies, are caused by constitutional dysregulation of RAS signalling predominantly through the RAF/MEK/ERK (MAPK) cascade. We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy. We also identified somatic RRAS mutations (p.Gly39dup and p.Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood myeloproliferative/myelodysplastic disease caused by upregulated RAS signalling, defining an atypical form of this haematological disorder rapidly progressing to acute myeloid leukaemia. Two of the three identified mutations affected known oncogenic hotspots of RAS genes and conferred variably enhanced RRAS function and stimulus-dependent MAPK activation. Expression of an RRAS mutant homolog in Caenorhabditis elegans enhanced RAS signalling and engendered protruding vulva, a phenotype previously linked to the RASopathy-causing SHOC2(S2G) mutant. Overall, these findings provide evidence of a functional link between RRAS and MAPK signalling and reveal an unpredicted role of enhanced RRAS function in human disease.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650	7	a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe
650	7	a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng
700	1	a Jaiswal, Mamta4 aut
700	1	a Pantaleoni, Francesca4 aut
700	1	a Martinelli, Simone4 aut
700	1	a Strullu, Marion4 aut
700	1	a Fansa, Eyad K4 aut
700	1	a Caye, Aurélie4 aut
700	1	a De Luca, Alessandro4 aut
700	1	a Lepri, Francesca4 aut
700	1	a Dvorsky, Radovan4 aut
700	1	a Pannone, Luca4 aut
700	1	a Paolacci, Stefano4 aut
700	1	a Zhang, Si-Cai4 aut
700	1	a Fodale, Valentina4 aut
700	1	a Bocchinfuso, Gianfranco4 aut
700	1	a Rossi, Cesare4 aut
700	1	a Burkitt-Wright, Emma M M4 aut
700	1	a Farrotti, Andrea4 aut
700	1	a Stellacci, Emilia4 aut
700	1	a Cecchetti, Serena4 aut
700	1	a Ferese, Rosangela4 aut
700	1	a Bottero, Lisabianca4 aut
700	1	a Castro, Silvana4 aut
700	1	a Fenneteau, Odile4 aut
700	1	a Brethon, Benoit4 aut
700	1	a Sanchez, Massimo4 aut
700	1	a Roberts, Amy E4 aut
700	1	a Yntema, Helger G4 aut
700	1	a Van Der Burgt, Ineke4 aut
700	1	a Cianci, Paola4 aut
700	1	a Bondeson, Marie-Louiseu Uppsala universitet,Medicinsk genetik,Bondeson/Anneren4 aut0 (Swepub:uu)malobond
700	1	a Cristina Digilio, Maria4 aut
700	1	a Zampino, Giuseppe4 aut
700	1	a Kerr, Bronwyn4 aut
700	1	a Aoki, Yoko4 aut
700	1	a Loh, Mignon L4 aut
700	1	a Palleschi, Antonio4 aut
700	1	a Di Schiavi, Elia4 aut
700	1	a Carè, Alessandra4 aut
700	1	a Selicorni, Angelo4 aut
700	1	a Dallapiccola, Bruno4 aut
700	1	a Cirstea, Ion C4 aut
700	1	a Stella, Lorenzo4 aut
700	1	a Zenker, Martin4 aut
700	1	a Gelb, Bruce D4 aut
700	1	a Cavé, Hélène4 aut
700	1	a Ahmadian, Mohammad R4 aut
700	1	a Tartaglia, Marco4 aut
710	2	a Uppsala universitetb Medicinsk genetik4 org
773	0	t Human Molecular Geneticsd : Oxford University Press (OUP)g 23:16, s. 4315-4327q 23:16<4315-4327x 0964-6906x 1460-2083
856	4	u https://academic.oup.com/hmg/article-pdf/23/16/4315/13923502/ddu148.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-223942
856	4 8	u https://doi.org/10.1093/hmg/ddu148

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By the author/editor: Flex, Elisabetta; Jaiswal, Mamta; Pantaleoni, Fran ...; Martinelli, Simo ...; Strullu, Marion; Fansa, Eyad K; show more...; Caye, Aurélie; De Luca, Alessan ...; Lepri, Francesca; Dvorsky, Radovan; Pannone, Luca; Paolacci, Stefan ...; Zhang, Si-Cai; Fodale, Valentin ...; Bocchinfuso, Gia ...; Rossi, Cesare; Burkitt-Wright, ...; Farrotti, Andrea; Stellacci, Emili ...; Cecchetti, Seren ...; Ferese, Rosangel ...; Bottero, Lisabia ...; Castro, Silvana; Fenneteau, Odile; Brethon, Benoit; Sanchez, Massimo; Roberts, Amy E; Yntema, Helger G; Van Der Burgt, I ...; Cianci, Paola; Bondeson, Marie- ...; Cristina Digilio ...; Zampino, Giusepp ...; Kerr, Bronwyn; Aoki, Yoko; Loh, Mignon L; Palleschi, Anton ...; Di Schiavi, Elia; Carè, Alessandra; Selicorni, Angel ...; Dallapiccola, Br ...; Cirstea, Ion C; Stella, Lorenzo; Zenker, Martin; Gelb, Bruce D; Cavé, Hélène; Ahmadian, Mohamm ...; Tartaglia, Marco; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Biochemistry and ...

Articles in the publication: Human Molecular ...

By the university: Uppsala University

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