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Comparative sequence analysis of the human and pufferfish Huntington's disease genes

Nature Genetics volume 10, pages 67–76 (1995)Cite this article

Abstract

The Huntington's disease (HD) gene encodes a novel protein with as yet no known function. In order to identify the functionally important domains of this protein, we have cloned and sequenced the homologue of the HD gene in the pufferfish, Fugu rubripes. The Fugu HD gene spans only 23 kb of genomic DMA, compared to the 170 kb human gene, and yet all 67 exons are conserved. The first coding exon, the site of the disease–causing triplet repeat, is highly conserved. However, the glutamine repeat in Fugu consists of just four residues. We also show that gene order may be conserved over longer stretches of the two genomes. Our work describes a detailed example of sequence comparison between human and Fugu and illustrates the power of the pufferfish genome as a model system in the analysis of human genes.

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Author information

Authors and Affiliations

  1. Genome Analysis Laboratory, ICRF, Lincoln's Inn Fields, London, WC2A 3PX, UK

    Sarah Baxendale & Hans Lehrach

  2. DNA Sequencing Laboratory, ICRF, Lincoln's Inn Fields, London, WC2A 3PX, UK

    Sarah Abdulla & Stephan Beck

  3. MRC Molecular Genetics Unit and Department of Medicine, University of Cambridge Clinical School, Addenbrooke's Hospital, Cambridge, CB2 2QQ, UK

    Greg Elgar & Sydney Brenner

  4. Sanger Centre, Hinxton Hall, Hinxton, Cambs, CB101RQ, UK

    David Buck, Mary Berks, Gos Micklem & Richard Durbin

  5. Division of Medical and Molecular Genetics, United Medical and Dental Schools, Guy's Tower, Guy's Hospital, London, SE1 9RT, UK

    Gill Bates

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  1. Sarah Baxendale
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Baxendale, S., Abdulla, S., Elgar, G. et al. Comparative sequence analysis of the human and pufferfish Huntington's disease genes. Nat Genet 10, 67–76 (1995). https://doi.org/10.1038/ng0595-67

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