Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Regulation of gene expression and splicing are thought to be tissue-specific. Here, the authors obtain genomic and transcriptomic data from putamen and substantia nigra of 117 neurologically healthy human brains and find that splicing eQTLs are enriched for neuron-specific regulatory information.

Guardado en:

Detalles Bibliográficos
Autores principales:	Sebastian Guelfi, Karishma D’Sa, Juan A. Botía, Jana Vandrovcova, Regina H. Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado-Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), Kerrin S. Small, Colin Smith, Adaikalavan Ramasamy, John Hardy, Michael E. Weale, Mina Ryten
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d83bf92ed8ef48c8b17db5f5eae7d0d7
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:d83bf92ed8ef48c8b17db5f5eae7d0d7
record_format	dspace
spelling	oai:doaj.org-article:d83bf92ed8ef48c8b17db5f5eae7d0d72021-12-02T15:37:10ZRegulatory sites for splicing in human basal ganglia are enriched for disease-relevant information10.1038/s41467-020-14483-x2041-1723https://doaj.org/article/d83bf92ed8ef48c8b17db5f5eae7d0d72020-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14483-xhttps://doaj.org/toc/2041-1723Regulation of gene expression and splicing are thought to be tissue-specific. Here, the authors obtain genomic and transcriptomic data from putamen and substantia nigra of 117 neurologically healthy human brains and find that splicing eQTLs are enriched for neuron-specific regulatory information.Sebastian GuelfiKarishma D’SaJuan A. BotíaJana VandrovcovaRegina H. ReynoldsDavid ZhangDaniah TrabzuniLeonardo Collado-TorresAndrew ThomasonPedro Quijada LeytonSarah A. Gagliano TaliunMike A. NallsInternational Parkinson’s Disease Genomics Consortium (IPDGC)UK Brain Expression Consortium (UKBEC)Kerrin S. SmallColin SmithAdaikalavan RamasamyJohn HardyMichael E. WealeMina RytenNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Sebastian Guelfi Karishma D’Sa Juan A. Botía Jana Vandrovcova Regina H. Reynolds David Zhang Daniah Trabzuni Leonardo Collado-Torres Andrew Thomason Pedro Quijada Leyton Sarah A. Gagliano Taliun Mike A. Nalls International Parkinson’s Disease Genomics Consortium (IPDGC) UK Brain Expression Consortium (UKBEC) Kerrin S. Small Colin Smith Adaikalavan Ramasamy John Hardy Michael E. Weale Mina Ryten Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
description	Regulation of gene expression and splicing are thought to be tissue-specific. Here, the authors obtain genomic and transcriptomic data from putamen and substantia nigra of 117 neurologically healthy human brains and find that splicing eQTLs are enriched for neuron-specific regulatory information.
format	article
author	Sebastian Guelfi Karishma D’Sa Juan A. Botía Jana Vandrovcova Regina H. Reynolds David Zhang Daniah Trabzuni Leonardo Collado-Torres Andrew Thomason Pedro Quijada Leyton Sarah A. Gagliano Taliun Mike A. Nalls International Parkinson’s Disease Genomics Consortium (IPDGC) UK Brain Expression Consortium (UKBEC) Kerrin S. Small Colin Smith Adaikalavan Ramasamy John Hardy Michael E. Weale Mina Ryten
author_facet	Sebastian Guelfi Karishma D’Sa Juan A. Botía Jana Vandrovcova Regina H. Reynolds David Zhang Daniah Trabzuni Leonardo Collado-Torres Andrew Thomason Pedro Quijada Leyton Sarah A. Gagliano Taliun Mike A. Nalls International Parkinson’s Disease Genomics Consortium (IPDGC) UK Brain Expression Consortium (UKBEC) Kerrin S. Small Colin Smith Adaikalavan Ramasamy John Hardy Michael E. Weale Mina Ryten
author_sort	Sebastian Guelfi
title	Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
title_short	Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
title_full	Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
title_fullStr	Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
title_full_unstemmed	Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
title_sort	regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/d83bf92ed8ef48c8b17db5f5eae7d0d7
work_keys_str_mv	AT sebastianguelfi regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT karishmadsa regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT juanabotia regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT janavandrovcova regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT reginahreynolds regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT davidzhang regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT daniahtrabzuni regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT leonardocolladotorres regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT andrewthomason regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT pedroquijadaleyton regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT sarahagaglianotaliun regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT mikeanalls regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT internationalparkinsonsdiseasegenomicsconsortiumipdgc regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT ukbrainexpressionconsortiumukbec regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT kerrinssmall regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT colinsmith regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT adaikalavanramasamy regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT johnhardy regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT michaeleweale regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation AT minaryten regulatorysitesforsplicinginhumanbasalgangliaareenrichedfordiseaserelevantinformation
_version_	1718386261759098880

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Ejemplares similares