title: Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism.
abstract: The huntingtin-associated protein (HAP-1) interacts with the Huntington disease gene product, huntingtin. It is predominantly expressed in the brain and shows an increased affinity for mutant huntingtin. We have sequenced an 18,656bp genomic region encompassing the entire human HAP-1 gene and determined its genomic organisation, with 11 exons spanning 12.1kb. We have also found an intragenic polymorphism within intron 6 of HAP-1. We have recently shown that HAP-1 maps to a region of the genome which has been implicated in a variety of neurological conditions, including progressive supranuclear palsy (PSP), a late-onset atypical parkinsonian disorder. The detailed characterisation of the genomic organisation of HAP-1 and the presence of an intragenic polymorphism will be helpful in evaluating its role in different disorders, using candidate gene approaches.
authors.affiliation: Human Genetics Unit, Molecular Medicine Centre, Western General Hospital, EH4 2XU, Edinburgh, UK. j.nasir@ed.ac.uk
authors.forename: J
authors.initials: J
authors.lastname: Nasir
authors.forename: M J
authors.initials: MJ
authors.lastname: Lafuente
authors.forename: K
authors.initials: K
authors.lastname: Duan
authors.forename: V
authors.initials: V
authors.lastname: Colomer
authors.forename: S
authors.initials: S
authors.lastname: Engelender
authors.forename: R
authors.initials: R
authors.lastname: Ingersoll
authors.forename: R L
authors.initials: RL
authors.lastname: Margolis
authors.forename: C A
authors.initials: CA
authors.lastname: Ross
authors.forename: M R
authors.initials: MR
authors.lastname: Hayden
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D021901:DNA, Intergenic / Q000235:genetics; D005091:Exons; D005796:Genes / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA
chemical_list: D021901:DNA, Intergenic; C096896:HAP1 protein, human; D009419:Nerve Tissue Proteins; D004247:DNA