Nasir J, Lafuente M J, Duan K, Colomer V, Engelender S, Ingersoll R, Margolis R L, Ross C A, Hayden M R
Human Genetics Unit, Molecular Medicine Centre, Western General Hospital, EH4 2XU, Edinburgh, UK.
Gene. 2000 Aug 22;254(1-2):181-7. doi: 10.1016/s0378-1119(00)00269-9.
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.
