Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2

[Description of methods used for collection/generation of data] - Sanger sequencing. - Fluorescent Fragment Analysis.

Detalles Bibliográficos
Autores: Llinares-Burguet, Inés, Velasco, Eladio
Tipo de recurso: conjunto de datos
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/367824
Acceso en línea:http://hdl.handle.net/10261/367824
https://doi.org/10.20350/digitalCSIC/16556
Access Level:acceso abierto
Palabra clave:Minigenes
Splicing assays
Breast/ovarian cancer susceptibility genes
ATM
BRIP1
PALB2
Aberrant splicing
id ES_1a0cc50d301a1d1eb35c1930ba3ab3ed
oai_identifier_str oai:digital.csic.es:10261/367824
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
title Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
spellingShingle Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
Llinares-Burguet, Inés
Minigenes
Splicing assays
Breast/ovarian cancer susceptibility genes
ATM
BRIP1
PALB2
Aberrant splicing
title_short Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
title_full Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
title_fullStr Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
title_full_unstemmed Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
title_sort Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2
dc.creator.none.fl_str_mv Llinares-Burguet, Inés
Velasco, Eladio
author Llinares-Burguet, Inés
author_facet Llinares-Burguet, Inés
Velasco, Eladio
author_role author
author2 Velasco, Eladio
author2_role author
dc.contributor.none.fl_str_mv Ministerio de Ciencia e Innovación (España)
Instituto de Salud Carlos III
European Commission
Llinares-Burguet, Inés [0000-0002-5548-7114]
Velasco, Eladio [0000-0002-9682-5589]
Velasco, Eladio [ea.velasco@csic.es]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Minigenes
Splicing assays
Breast/ovarian cancer susceptibility genes
ATM
BRIP1
PALB2
Aberrant splicing
topic Minigenes
Splicing assays
Breast/ovarian cancer susceptibility genes
ATM
BRIP1
PALB2
Aberrant splicing
description [Description of methods used for collection/generation of data] - Sanger sequencing. - Fluorescent Fragment Analysis.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/dataset
http://purl.org/coar/resource_type/c_ddb1
format dataset
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/367824
https://doi.org/10.20350/digitalCSIC/16556
url http://hdl.handle.net/10261/367824
https://doi.org/10.20350/digitalCSIC/16556
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Llinares-Burguet, Inés; Sanoguera-Miralles, Lara; Valenzuela-Palomo, Alberto; García-Álvarez, Alicia; Bueno-Martínez, Elena; Velasco, Eladio. Splicing Dysregulation of Non-Canonical GC-5′ Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2. https://doi.org/10.3390/cancers16213562 . http://hdl.handle.net/10261/380373
SnapGene Viewer for .ab1 extensions.-- Peak Scanner v1.0 for .fsa extensions.
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv DIGITAL.CSIC
publisher.none.fl_str_mv DIGITAL.CSIC
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869404082659131392
spelling Molecular analysis of atypical GC donors of the breast cancer susceptibility genes ATM, BRIP1 and PALB2Llinares-Burguet, InésVelasco, EladioMinigenesSplicing assaysBreast/ovarian cancer susceptibility genesATMBRIP1PALB2Aberrant splicing[Description of methods used for collection/generation of data] - Sanger sequencing. - Fluorescent Fragment Analysis.This dataset contains fragment analysis and sequencing files of a comprehensive study of GC splice sites of the breast/ovarian cancer susceptibility genes ATM, BRIP1 and PALB2. The non-canonical GC-5’ splice-sites (5’ss) are the most common exception (~1%) to the classical GT/AG splicing rule. They constitute weak 5’ss and can be regulated by splicing factors, so they are especially sensitive to genetic variations inducing misrecognition of their respective exons. We aimed at investigating GC-5’ss of the breast/ovarian cancer susceptibility genes ATM (exon 50), BRIP1 (exon 1) and PALB2 (exon 12) and their dysregulation induced by DNA variants. For this purpose, we have used three splicing reporter minigenes: mgATM_49-52, mgBRIP1_1-2 and mgPALB2_5-12. We identified three regions of ATM exon 50 and PALB2 exon 12 enriched in splicing regulatory elements. We selected and assayed 23 variants located at these positive intervals, 12 of which impaired recognition of their respective exons.EAV-S lab is supported by a grant from the Spanish Ministry of Science and Innovation, Plan Nacional de I+D+I 2013-2016, ISCIII (PI23/00047) co-funded by FEDER from Regional Development European Funds (European Union).File List: • Folder: ATM ex50 - Sub-folder: Fragment_Analysis. Fluorescent Fragment Analysis: Sub-folder Microdeletions: 35 *.fsa files of fluorescent fragment analysis of RT-PCRs of microdeletions Sub-folder Variants and control: 53 *.fsa files of fluorescent fragment analysis of RT-PCRs of variants - Sub-folder: Sequences. Sub-folder cDNA. Transcript Sequencing. Sub-folder Microdeletions: 14 *.ab1 files of transcripts generated by microdeletions. Sub-folder Variants and control: 30 *.ab1 files of transcripts generated by variants. Sub-folder: Minigenes. Sequence files of wild type and mutant constructs: Sub-folder Microdeletions: 12 *.ab1 files. Sub-folder Variants and control: 18 *.ab1 files - Sub-folder: WT. Fragment analysis and sequencing files of the wild type minigene. Fragment_Analysis: 3 *.fsa files of fluorescent fragment analysis of RT-PCRs of the wild type construct. Sequences: 4 *.ab1 files of RT-PCRs and the construct sequences of the wild type minigene. • Folder: BRIP1 - Sub-folder: Sequences. Sub-folder cDNA. Transcript Sequencing. 8 *.ab1 files of transcripts generated by microdeletions. Sub-folder: Minigene. Sequence files of mutant constructs: 4 *.ab1 files. - Sub-folder: WT. Fragment analysis and sequencing files of the wild type minigene. Fragment_Analysis: 3 *.fsa files of fluorescent fragment analysis of RT-PCRs of the wild type construct. Sequences: 3 *.ab1 files of RT-PCRs and the construct sequences of the wild type minigene. • Folder: PALB2 ex12 - Sub-folder: Fragment_Analysis. Fluorescent Fragment Analysis: Sub-folder Microdeletions: 33 *.fsa files of fluorescent fragment analysis of RT-PCRs of microdeletions Sub-folder Variants: 30 *.fsa files of fluorescent fragment analysis of RT-PCRs of variants - Sub-folder: Sequences. Sub-folder cDNA. Transcript Sequencing: 25 *.ab1 files of transcripts generated by microdeletions. Sub-folder: Minigenes. Sequence files of wild type and mutant constructs: Sub-folder Microdeletions: 11 *.ab1 files. Sub-folder Variants: 11 *.ab1 files - Sub-folder: WT. Fragment analysis and sequencing files of the wild type minigene. Fragment_Analysis: 3 *.fsa files of fluorescent fragment analysis of RT-PCRs of the wild type construct. Sequences: 11 *.ab1 files of RT-PCRs and the construct sequences of the wild type minigene.Peer reviewedDIGITAL.CSICMinisterio de Ciencia e Innovación (España)Instituto de Salud Carlos IIIEuropean CommissionLlinares-Burguet, Inés [0000-0002-5548-7114]Velasco, Eladio [0000-0002-9682-5589]Velasco, Eladio [ea.velasco@csic.es]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2024202420242024info:eu-repo/semantics/datasethttp://purl.org/coar/resource_type/c_ddb1http://hdl.handle.net/10261/367824https://doi.org/10.20350/digitalCSIC/16556reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésLlinares-Burguet, Inés; Sanoguera-Miralles, Lara; Valenzuela-Palomo, Alberto; García-Álvarez, Alicia; Bueno-Martínez, Elena; Velasco, Eladio. Splicing Dysregulation of Non-Canonical GC-5′ Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2. https://doi.org/10.3390/cancers16213562 . http://hdl.handle.net/10261/380373SnapGene Viewer for .ab1 extensions.-- Peak Scanner v1.0 for .fsa extensions.Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3678242026-05-22T06:33:51Z
score 15,811543

Similares en LA Referencia