Distinct X-chromosome SNVs from some sporadic AD samples

Sporadic Alzheimer disease (SAD) is the most prevalent neurodegenerative disorder. With the development of new generation DNA sequencing technologies, additional genetic risk factors have been described. Here we used various methods to process DNA sequencing data in order to gain further insight int...

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Authors: Gómez Ramos, Alberto, Podlesniy, Petar, Soriano García, Eduardo, Avila, Jesús
Format: article
Status:Published version
Publication Date:2015
Country:España
Institution:Universidad de Barcelona
Repository:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/125888
Online Access:https://hdl.handle.net/2445/125888
Access Level:Open access
Keyword:Malaltia d'Alzheimer
Nucleòtids
Alzheimer's disease
Nucleotides
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network_name_str España
repository_id_str
spelling Distinct X-chromosome SNVs from some sporadic AD samplesGómez Ramos, AlbertoPodlesniy, PetarSoriano García, EduardoAvila, JesúsMalaltia d'AlzheimerNucleòtidsAlzheimer's diseaseNucleotidesSporadic Alzheimer disease (SAD) is the most prevalent neurodegenerative disorder. With the development of new generation DNA sequencing technologies, additional genetic risk factors have been described. Here we used various methods to process DNA sequencing data in order to gain further insight into this important disease. We have sequenced the exomes of brain samples from SAD patients and non-demented controls. Using either method, we found a higher number of single nucleotide variants (SNVs), from SAD patients, in genes present at the X chromosome. Using the most stringent method, we validated these variants by Sanger sequencing. Two of these gene variants, were found in loci related to the ubiquitin pathway (UBE2NL and ATXN3L), previously do not described as genetic risk factors for SAD.Nature Publishing Group2015info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/125888Articles publicats en revistes (Biologia Cel·lular, Fisiologia i Immunologia)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1038/srep18012Scientific Reports, 2015, vol. 5, p. 18012https://doi.org/10.1038/srep18012cc-by (c) Gómez-Ramos, A. et al., 2015http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1258882026-05-27T06:46:51Z
dc.title.none.fl_str_mv Distinct X-chromosome SNVs from some sporadic AD samples
title Distinct X-chromosome SNVs from some sporadic AD samples
spellingShingle Distinct X-chromosome SNVs from some sporadic AD samples
Gómez Ramos, Alberto
Malaltia d'Alzheimer
Nucleòtids
Alzheimer's disease
Nucleotides
title_short Distinct X-chromosome SNVs from some sporadic AD samples
title_full Distinct X-chromosome SNVs from some sporadic AD samples
title_fullStr Distinct X-chromosome SNVs from some sporadic AD samples
title_full_unstemmed Distinct X-chromosome SNVs from some sporadic AD samples
title_sort Distinct X-chromosome SNVs from some sporadic AD samples
dc.creator.none.fl_str_mv Gómez Ramos, Alberto
Podlesniy, Petar
Soriano García, Eduardo
Avila, Jesús
author Gómez Ramos, Alberto
author_facet Gómez Ramos, Alberto
Podlesniy, Petar
Soriano García, Eduardo
Avila, Jesús
author_role author
author2 Podlesniy, Petar
Soriano García, Eduardo
Avila, Jesús
author2_role author
author
author
dc.subject.none.fl_str_mv Malaltia d'Alzheimer
Nucleòtids
Alzheimer's disease
Nucleotides
topic Malaltia d'Alzheimer
Nucleòtids
Alzheimer's disease
Nucleotides
description Sporadic Alzheimer disease (SAD) is the most prevalent neurodegenerative disorder. With the development of new generation DNA sequencing technologies, additional genetic risk factors have been described. Here we used various methods to process DNA sequencing data in order to gain further insight into this important disease. We have sequenced the exomes of brain samples from SAD patients and non-demented controls. Using either method, we found a higher number of single nucleotide variants (SNVs), from SAD patients, in genes present at the X chromosome. Using the most stringent method, we validated these variants by Sanger sequencing. Two of these gene variants, were found in loci related to the ubiquitin pathway (UBE2NL and ATXN3L), previously do not described as genetic risk factors for SAD.
publishDate 2015
dc.date.none.fl_str_mv 2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/125888
url https://hdl.handle.net/2445/125888
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1038/srep18012
Scientific Reports, 2015, vol. 5, p. 18012
https://doi.org/10.1038/srep18012
dc.rights.none.fl_str_mv cc-by (c) Gómez-Ramos, A. et al., 2015
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Gómez-Ramos, A. et al., 2015
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv Articles publicats en revistes (Biologia Cel·lular, Fisiologia i Immunologia)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,301603

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