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Conserved non-genic sequences — an unexpected feature of mammalian genomes

Nature Reviews Genetics volume 6, pages 151–157 (2005)Cite this article

Abstract

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?

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Figure 1: Distribution of conserved non-genic sequences in the human genome.
Figure 2: Conservation of conserved non-genic sequences and genes in mammals.
Figure 3: Long-distance regulatory conserved non-genic sequences and mutation.

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Acknowledgements

We thank H. Attar for helping us with the analysis and collection of data. The authors are supported by grants from the Swiss National Science Foundation, the National Center of Competence in Research 'Frontiers in Genetics', the US National Institutes of Health, the European Union, the 'ChildCare' Foundation, the Jerome Lejeune Foundation and the Wellcome Trust.

Author information

Authors and Affiliations

  1. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, Cambridge, UK

    Emmanouil T. Dermitzakis

  2. Centre Integratif de Genomique, Faculte de biologie et de medecine, BEP, Lausanne, CH-1015, Switzerland

    Alexandre Reymond

  3. the Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, Geneva, 1211, Switzerland

    Stylianos E. Antonarakis

Authors
  1. Emmanouil T. Dermitzakis
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Correspondence to Emmanouil T. Dermitzakis or Stylianos E. Antonarakis.

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Related links

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DATABASES

Entrez

LMBR1

SHH

Sox9

POU3F4

FURTHER INFORMATION

National Human Genome Research Institute

Human Genome Project

Glossary

HISTONE CODE

Post-translational modifications of histone tails that involve characteristic clusters of modifications, including acetylation, phosphorylation, ubiquitylation, methylation and ADP-ribosylation, which combine to create an epigenetic mechanism for the regulation of gene expression.

IN VIVO FOOTPRINTING

An assay that detects the presence of protein binding onto DNA in an in vivo system.

PREAXIAL POLYDACTYLY

Addition of fingers or toes on the thumb side of the hand or the big toe side of the foot.

SOUTHWESTERN ANALYSIS

An assay, in which one runs proteins on a PAGE gel, blots the gel and then hybridizes the membrane with labelled DNA. The goal is to identify protein–DNA interactions.

TRANSVECTION

A phenomenon whereby homologous chromosomes are synapsed in somatic cells, as a result of which some enhancers and/or silencers can function in trans.

YEAST 1-HYBRID

An assay that uses transcriptional activation in yeast as a model to detect protein–DNA interactions.

ZONE OF POLARIZING ACTIVITY

A small region in the developing limb bud that is responsible for correct patterning of the anterior–posterior axis of the limb.

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Dermitzakis, E., Reymond, A. & Antonarakis, S. Conserved non-genic sequences — an unexpected feature of mammalian genomes. Nat Rev Genet 6, 151–157 (2005). https://doi.org/10.1038/nrg1527

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