Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

Mutations in RAS-MAPK pathway genes are implicated in Noonan-spectrum, yet up to 20% of cases have unknown cause. Here, the authors identify RREB1 underlying a 6p microdeletion RASopathy-like syndrome and show that RREB1, SIN3A and KDM1A form a transcriptional repressive complex to control methylati...

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Autores principales:	Oliver A. Kent, Manipa Saha, Etienne Coyaud, Helen E. Burston, Napoleon Law, Keith Dadson, Sujun Chen, Estelle M. Laurent, Jonathan St-Germain, Ren X. Sun, Yoshinori Matsumoto, Justin Cowen, Aaryn Montgomery-Song, Kevin R. Brown, Charles Ishak, Jose La Rose, Daniel D. De Carvalho, Housheng Hansen He, Brian Raught, Filio Billia, Peter Kannu, Robert Rottapel
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/7477dd54517347169cc4551af1667746
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spelling	oai:doaj.org-article:7477dd54517347169cc4551af16677462021-12-02T17:25:45ZHaploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes10.1038/s41467-020-18483-92041-1723https://doaj.org/article/7477dd54517347169cc4551af16677462020-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-18483-9https://doaj.org/toc/2041-1723Mutations in RAS-MAPK pathway genes are implicated in Noonan-spectrum, yet up to 20% of cases have unknown cause. Here, the authors identify RREB1 underlying a 6p microdeletion RASopathy-like syndrome and show that RREB1, SIN3A and KDM1A form a transcriptional repressive complex to control methylation of MAPK pathway genes.Oliver A. KentManipa SahaEtienne CoyaudHelen E. BurstonNapoleon LawKeith DadsonSujun ChenEstelle M. LaurentJonathan St-GermainRen X. SunYoshinori MatsumotoJustin CowenAaryn Montgomery-SongKevin R. BrownCharles IshakJose La RoseDaniel D. De CarvalhoHousheng Hansen HeBrian RaughtFilio BilliaPeter KannuRobert RottapelNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Oliver A. Kent Manipa Saha Etienne Coyaud Helen E. Burston Napoleon Law Keith Dadson Sujun Chen Estelle M. Laurent Jonathan St-Germain Ren X. Sun Yoshinori Matsumoto Justin Cowen Aaryn Montgomery-Song Kevin R. Brown Charles Ishak Jose La Rose Daniel D. De Carvalho Housheng Hansen He Brian Raught Filio Billia Peter Kannu Robert Rottapel Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes
description	Mutations in RAS-MAPK pathway genes are implicated in Noonan-spectrum, yet up to 20% of cases have unknown cause. Here, the authors identify RREB1 underlying a 6p microdeletion RASopathy-like syndrome and show that RREB1, SIN3A and KDM1A form a transcriptional repressive complex to control methylation of MAPK pathway genes.
format	article
author	Oliver A. Kent Manipa Saha Etienne Coyaud Helen E. Burston Napoleon Law Keith Dadson Sujun Chen Estelle M. Laurent Jonathan St-Germain Ren X. Sun Yoshinori Matsumoto Justin Cowen Aaryn Montgomery-Song Kevin R. Brown Charles Ishak Jose La Rose Daniel D. De Carvalho Housheng Hansen He Brian Raught Filio Billia Peter Kannu Robert Rottapel
author_facet	Oliver A. Kent Manipa Saha Etienne Coyaud Helen E. Burston Napoleon Law Keith Dadson Sujun Chen Estelle M. Laurent Jonathan St-Germain Ren X. Sun Yoshinori Matsumoto Justin Cowen Aaryn Montgomery-Song Kevin R. Brown Charles Ishak Jose La Rose Daniel D. De Carvalho Housheng Hansen He Brian Raught Filio Billia Peter Kannu Robert Rottapel
author_sort	Oliver A. Kent
title	Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes
title_short	Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes
title_full	Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes
title_fullStr	Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes
title_full_unstemmed	Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes
title_sort	haploinsufficiency of rreb1 causes a noonan-like rasopathy via epigenetic reprogramming of ras-mapk pathway genes
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/7477dd54517347169cc4551af1667746
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Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

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