title: Similarities and differences between exome sequences found in a variety of tissues from the same individual.
abstract: DNA is the most stable nucleic acid and most important store of genetic information. DNA sequences are conserved in virtually all the cells of a multicellular organism. To analyze the sequences of various individuals with distinct pathological disorders, DNA is routinely isolated from blood, independently of the tissue that is the target of the disease. This approach has proven useful for the identification of familial diseases where mutations are present in parental germinal cells. With the capacity to compare DNA sequences from distinct tissues or cells, present technology can be used to study whether DNA sequences in tissues are invariant. Here we explored the presence of specific SNVs (Single Nucleotide Variations) in various tissues of the same individual. We tested for the presence of tissue-specific exonic SNVs, taking blood exome as a control. We analyzed the chromosomal location of these SNVs. The number of SNVs per chromosome was found not to depend on chromosome length, but mainly on the number of protein-coding genes per chromosome. Although similar but not identical patterns of chromosomal distribution of tissue-specific SNVs were found, clear differences were detected. This observation supports the notion that each tissue has a specific SNV exome signature.
authors.affiliation: Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Gómez-Ramos
authors.affiliation: Hospital Universitario Reina Sofía, IMIBIC, Córdoba, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Sanchez-Sanchez
authors.affiliation: Department of Cell Biology, University of Barcelona, Barcelona, Spain; Institut de Recerca de l'Hospital Universitari de la Vall d'Hebron (VHIR), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Ashraf
authors.initials: A
authors.lastname: Muhaisen
authors.affiliation: Fundación CIEN, Vallecas, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Rábano
authors.affiliation: Department of Cell Biology, University of Barcelona, Barcelona, Spain; Institut de Recerca de l'Hospital Universitari de la Vall d'Hebron (VHIR), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Soriano
authors.affiliation: Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Madrid, Spain; Institut de Recerca de l'Hospital Universitari de la Vall d'Hebron (VHIR), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Avila
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics*; D059472:Exome; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009928:Organ Specificity