title: Comparative sequence analysis of the human and pufferfish Huntington's disease genes.
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 DNA, 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.
authors.affiliation: Genome Analysis Laboratory, ICRF, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Baxendale
authors.forename: S
authors.initials: S
authors.lastname: Abdulla
authors.forename: G
authors.initials: G
authors.lastname: Elgar
authors.forename: D
authors.initials: D
authors.lastname: Buck
authors.forename: M
authors.initials: M
authors.lastname: Berks
authors.forename: G
authors.initials: G
authors.lastname: Micklem
authors.forename: R
authors.initials: R
authors.lastname: Durbin
authors.forename: G
authors.initials: G
authors.lastname: Bates
authors.forename: S
authors.initials: S
authors.lastname: Brenner
authors.forename: S
authors.initials: S
authors.lastname: Beck
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D003001:Cloning, Molecular; D003062:Codon / Q000235:genetics; D017124:Conserved Sequence; D018076:DNA, Complementary; D005091:Exons; D005400:Fishes, Poisonous / Q000235:genetics*; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D016415:Sequence Alignment; D017385:Sequence Homology
chemical_list: D003062:Codon; D018076:DNA, Complementary; C086055:HTT protein, human; C506812:Htt protein, mouse; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins