Journal article
Evaluation and molecular characterization of EHD1, a candidate gene for Bardet–Biedl Syndrome 1 (BBS1)
Gene, Vol.240(1), pp.227-232
1999
DOI: 10.1016/S0378-1119(99)00395-9
PMID: 10564830
Abstract
Bardet–Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism. To date, five BBS loci have been identified. BBS1, located on 11q13, is reported to be the most prevalent form of BBS in the Caucasian population. A positional cloning approach is being used to identify the gene responsible for BBS1. EHD1, a new member of the EH-domain containing proteins, was identified in this study as lying within the BBS1 disease interval. RNA analysis of many tissues revealed that expression of EHD1 is ubiquitous, with elevated levels in the testis. The genomic structure of EHD1 was elucidated by direct BAC sequencing. Following identification of the intron/exon boundaries, mutational analysis was performed by single strand conformation polymorphism and direct sequencing of affected individuals from several large kindreds linked to the BBS1 locus, as well as a cohort of unrelated probands. No disease-causing mutations were identified in this analysis, but several polymorphisms were found.
Details
- Title: Subtitle
- Evaluation and molecular characterization of EHD1, a candidate gene for Bardet–Biedl Syndrome 1 (BBS1)
- Creators
- N.B Haider - Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USAC Searby - Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USAE Galperin - Department of Cell Research and Immunology, Faculty of Life Sciences, Tel Aviv University, Ramat-Aviv 69978, IsraelL Mintz - Department of Cell Research and Immunology, Faculty of Life Sciences, Tel Aviv University, Ramat-Aviv 69978, IsraelM Horowitz - Tel Aviv UniversityE.M Stone - Department of Ophthomology, University of Iowa, Iowa City, IA 52242, USAV.C Sheffield - Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Gene, Vol.240(1), pp.227-232
- DOI
- 10.1016/S0378-1119(99)00395-9
- PMID
- 10564830
- NLM abbreviation
- Gene
- ISSN
- 0378-1119
- eISSN
- 1879-0038
- Publisher
- Elsevier B.V
- Grant note
- DOI: 10.13039/100000002, name: National Institutes of Health, award: NEI R01-EY-11298
- Language
- English
- Date published
- 1999
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980019102771
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