title: Distinct X-chromosome SNVs from some sporadic AD samples.
abstract: 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.
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII, Madrid 28031, Spain.|Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Neurobiology Laboratory, Madrid 28049, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Gómez-Ramos
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII, Madrid 28031, Spain.|Neurobiology Unit, Institut d'Investigacions Biomèdiques de Barcelona, CSIC, IDIBAPS, Barcelona 08036, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Podlesniy
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII, Madrid 28031, Spain.|Department of Cell Biology, Faculty of Biology, University of Barcelona and Parc Científic de Barcelona, Barcelona 08028, Spain.|Vall d'Hebrón Institut de Recerca (VHIR), Barcelona 08023, Spain.|ICREA Academia, Barcelona 08010, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Soriano
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ISCIII, Madrid 28031, Spain.|Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Neurobiology Laboratory, Madrid 28049, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Avila
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D019295:Computational Biology / Q000379:methods; D059472:Exome; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results