title: Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).
abstract: Analysis of the human and mouse genomes identified an abundance of conserved non-genic sequences (CNGs). The significance and evolutionary depth of their conservation remain unanswered. We have quantified levels and patterns of conservation of 191 CNGs of human chromosome 21 in 14 mammalian species. We found that CNGs are significantly more conserved than protein-coding genes and noncoding RNAS (ncRNAs) within the mammalian class from primates to monotremes to marsupials. The pattern of substitutions in CNGs differed from that seen in protein-coding and ncRNA genes and resembled that of protein-binding regions. About 0.3% to 1% of the human genome corresponds to a previously unknown class of extremely constrained CNGs shared among mammals.
authors.affiliation: Division of Medical Genetics and National Center of Competence in Research (NCCR) Frontiers in Genetics, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland. Emmanouil.Dermitzakis@medecine.unige.ch
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
authors.forename: Nathalie
authors.initials: N
authors.lastname: Scamuffa
authors.forename: Catherine
authors.initials: C
authors.lastname: Ucla
authors.forename: Ewen
authors.initials: E
authors.lastname: Kirkness
authors.forename: Colette
authors.initials: C
authors.lastname: Rossier
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
mesh_terms: D000818:Animals; D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D033481:Chromosomes, Mammalian / Q000235:genetics*; D017124:Conserved Sequence; D021901:DNA, Intergenic / Q000235:genetics*; D016002:Discriminant Analysis; D019143:Evolution, Molecular; D005260:Female; D005815:Genetic Code; D016678:Genome; D006801:Humans; D008297:Male; D008322:Mammals / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D022661:RNA, Untranslated / Q000235:genetics; D012641:Selection, Genetic; D016415:Sequence Alignment; D013045:Species Specificity; D013995:Time; D014158:Transcription, Genetic
chemical_list: D021901:DNA, Intergenic; D011506:Proteins; D022661:RNA, Untranslated