Conserved non-genic sequences - an unexpected feature of mammalian genomes.
Mammalian genomes contain highly conserved sequences that are not functionally transcribed. These sequences are single copy and comprise approximately 1-2% of the human genome. Evolutionary analysis strongly supports their functional conservation, although their potentially diverse, functional attributes remain unknown. It is likely that genomic variation in conserved non-genic sequences is associated with phenotypic variability and human disorders. So how might their function and contribution to human disorders be examined?
Dermitzakis
Emmanouil T
ET
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. md4@sanger.ac.uk
Reymond
Alexandre
A
Antonarakis
Stylianos E
SE
D000818:Animals; D001483:Base Sequence / Q000235:genetics; D019295:Computational Biology; D017124:Conserved Sequence / Q000235:genetics*; D021901:DNA, Intergenic / Q000235:genetics*; D019143:Evolution, Molecular; D014644:Genetic Variation; D016678:Genome; D006801:Humans; D008957:Models, Genetic; D010641:Phenotype
D021901:DNA, Intergenic