Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment.

Détails

ID Serval
serval:BIB_7C2FEB973B83
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment.
Périodique
Genome Research
Auteur⸱e⸱s
Dermitzakis E.T., Kirkness E., Schwarz S., Birney E., Reymond A., Antonarakis S.E.
ISSN
1088-9051[print], 1088-9051[linking]
Statut éditorial
Publié
Date de publication
2004
Peer-reviewed
Oui
Volume
14
Numéro
5
Pages
852-859
Langue
anglais
Notes
Publication types: Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
The analysis of conservation between the human and mouse genomes resulted in the identification of a large number of conserved nongenic sequences (CNGs). The functional significance of this nongenic conservation remains unknown, however. The availability of the sequence of a third mammalian genome, the dog, allows for a large-scale analysis of evolutionary attributes of CNGs in mammals. We have aligned 1638 previously identified CNGs and 976 conserved exons (CODs) from human chromosome 21 (Hsa21) with their orthologous sequences in mouse and dog. Attributes of selective constraint, such as sequence conservation, clustering, and direction of substitutions were compared between CNGs and CODs, showing a clear distinction between the two classes. We subsequently performed a chromosome-wide analysis of CNGs by correlating selective constraint metrics with their position on the chromosome and relative to their distance from genes. We found that CNGs appear to be randomly arranged in intergenic regions, with no bias to be closer or farther from genes. Moreover, conservation and clustering of substitutions of CNGs appear to be completely independent of their distance from genes. These results suggest that the majority of CNGs are not typical of previously described regulatory elements in terms of their location. We propose models for a global role of CNGs in genome function and regulation, through long-distance cis or trans chromosomal interactions.
Mots-clé
Animals, Chromosome Mapping, Chromosomes, Human, Pair 21/genetics, Computational Biology/methods, Conserved Sequence/genetics, DNA, Intergenic/genetics, Databases, Genetic, Dogs, Environment, Evolution, Molecular, Exons/genetics, Genes/genetics, Genetic Variation/genetics, Genome, Humans, Introns/genetics, Mice, Point Mutation/genetics, Selection, Genetic, Sequence Homology, Nucleic Acid
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/01/2008 15:52
Dernière modification de la notice
20/08/2019 14:37
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