title: Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).
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.
authors.affiliation: Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
authors.forename: N B
authors.initials: NB
authors.lastname: Haider
authors.forename: C
authors.initials: C
authors.lastname: Searby
authors.forename: E
authors.initials: E
authors.lastname: Galperin
authors.forename: L
authors.initials: L
authors.lastname: Mintz
authors.forename: M
authors.initials: M
authors.lastname: Horowitz
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
mesh_terms: D000595:Amino Acid Sequence; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D015331:Cohort Studies; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005796:Genes / Q000235:genetics; D006801:Humans; D006822:Hybrid Cells; D007438:Introns; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D033921:Vesicular Transport Proteins
chemical_list: D002352:Carrier Proteins; C120700:EHD1 protein, human; D033921:Vesicular Transport Proteins; D004247:DNA