Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23

• Published in: Genomics (San Diego, Calif.) Vol. 46; no. 2; pp. 313 - 315
• Main Authors: WEDEMEYER, N, PEOPLES, R, HIMMELBAUER, H, LEHRACH, H, FRANCKE, U, WANKER, E. E
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier 01.12.1997
• Subjects: Biological and medical sciences; Blotting, Southern; Chromosome Mapping - methods; Chromosomes, Human, Pair 7; Classical genetics, quantitative genetics, hybrids; DNA-Binding Proteins - genetics; Elastin - genetics; Fundamental and applied biological sciences. Psychology; Gene Dosage; Genetic Markers; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Williams Syndrome - genetics; Genetic mapping; Human; Binding protein; Gene; Huntingtin; Huntington disease; Critical region; Chromosome C7; Williams Beuren syndrome
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1997.5027

We have evaluated HIP1 as a candidate gene for the neurobehavioral features of WBS. The HIP1 gene encodes a huntingtin interacting protein, which was isolated by two independent groups using the yeast two-hybrid system (8, 18). The gene is ubiquitously expressed in human tissues at low levels. Using an affinity-purified polyclonal antibody raised against recombinant HIP1, a 116-kDa protein was detected in brain and peripheral tissues by Western blot analysis (18). In contrast, Kalchman et al. (8) showed that the protein was exclusively present in the central nervous system. However, in both studies it was conclusively shown that HIP1 and huntingtin interact with each other in vivo and in vitro and that they were both present in the membrane-containing fractions isolated from human brain cells. There is evidence that in individuals with Huntington disease the normal interaction between HIP1 and huntingtin is disrupted by an elongated polyglutamine expansion in the huntingtin protein (8). However, additional experiments will be necessary to prove this assumption.