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Related Experiment Videos

Evolutionarily conserved sequences on human chromosome 21.

K A Frazer1, J B Sheehan, R P Stokowski

  • 1Perlegen Sciences, Santa Clara, California 95051, USA. kelly_frazer@perlegen.com

Genome Research
|October 10, 2001
PubMed
Summary
This summary is machine-generated.

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Comparing human DNA with other mammals using high-density arrays rapidly identifies conserved functional elements. This powerful method revealed many conserved elements on chromosome 21 outside known genes.

Area of Science:

  • Genomics
  • Comparative genomics
  • Bioinformatics

Background:

  • Comparative genomics aids in identifying functional elements within the human genome by analyzing conserved sequences across species.
  • High-density oligonucleotide arrays offer a novel approach for rapid cross-species DNA comparisons, even when full genome sequences are unavailable.

Purpose of the Study:

  • To evaluate the utility of high-density oligonucleotide arrays for comparative genomics.
  • To identify conserved DNA sequences between humans, mice, and dogs using this array-based method.
  • To investigate the genomic location and characteristics of evolutionarily conserved elements on human chromosome 21.

Main Methods:

  • Synthesis of high-density oligonucleotide arrays representing approximately 22.5 Mb of nonrepetitive human chromosome 21 sequence.

Related Experiment Videos

  • Hybridization of these arrays with mouse and dog DNA to detect sequence conservation.
  • Bioinformatic analysis to identify human-mouse and human-dog conserved elements.

    • Main Results:

    • Demonstrated the effectiveness of high-density arrays for rapid, multi-species sequence comparison.
    • Identified specific sequences conserved between humans and mice (human-mouse elements) and humans and dogs (human-dog elements).
    • Found that a significant proportion of evolutionarily conserved elements on chromosome 21 are located in non-gene regions.

    Conclusions:

    • Multi-species sequence comparison using high-density arrays is a powerful empirical method for identifying actively conserved elements in the human genome.
    • The identified conserved elements highlight potential functional regions beyond protein-coding genes.
    • This approach facilitates the discovery of novel functional genomic elements and enhances our understanding of genome evolution.