Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23
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...
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Published in | Genomics (San Diego, Calif.) Vol. 46; no. 2; pp. 313 - 315 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
San Diego, CA
Elsevier
01.12.1997
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
ISSN: | 0888-7543 1089-8646 |
DOI: | 10.1006/geno.1997.5027 |