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Genetics

Engineering a broken heart

Nature volume 401, pages 335–337 (1999)Cite this article

Many human birth defects arise because of chromosomal abnormalities such as deletions or insertions. For example, the most common deletion syndrome in humans — DiGeorge syndrome — results from the deletion of a large region within chromosome 22. Although the DNA sequence of the deleted region has been known for some time, progress in determining which genes in this sequence are critical for development has been slow. This is due to the complexity of human genetics and the limitations of working with human material.

On page 379 of this issue, Lindsay and colleagues1 report that, using the comparative human–mouse genome maps and chromosome-engineering technology, the DiGeorge syndrome can be modelled — at least in part — in mice. This model will allow researchers to investigate the embryological basis of the malformations seen, and to identify the critical genes. At the same time, their study demonstrates the potential of chromosome engineering for the investigation of birth defects involving chromosome duplications or deletions.

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  1. Molecular Medicine Unit, Institute of Child Health, London, WC1N IEH, UK

    Peter J. Scambler

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  1. Peter J. Scambler
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Correspondence to Peter J. Scambler.

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Scambler, P. Engineering a broken heart. Nature 401, 335–337 (1999). https://doi.org/10.1038/43804

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