Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses |
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| Authors: | Belen Hurle Tomas Marques-Bonet Francesca Antonacci Inna Hughes Joseph F Ryan NISC Comparative Sequencing Program Evan E Eichler David M Ornitz Eric D Green |
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| Affiliation: | (1) Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, 20892 Bethesda, MD, USA;(2) Department of Institut de Biologia Evolutiva (UPF/CSIC), Dr. Aiguader, 88, 08003 Barcelona, Spain;(3) Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington School of Medicine, 3720 15th Ave NE, 98195 Seattle, WA, USA;(4) Department of Child Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, 14642 Rochester, NY, USA;(5) NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, 20852 Bethesda, MD, USA;(6) Department of Molecular Biology and Pharmacology, Washington University School of Medicine, 660 South Euclid Avenue, 63110 St. Louis, MO, USA |
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| Abstract: | Background Mutations in the Otopetrin 1 gene (Otop1) in mice and fish produce an unusual bilateral vestibular pathology that involves the absence of otoconia without hearing impairment. The encoded protein, Otop1, is the only functionally characterized member of the Otopetrin Domain Protein (ODP) family; the extended sequence and structural preservation of ODP proteins in metazoans suggest a conserved functional role. Here, we use the tools of sequence- and cytogenetic-based comparative genomics to study the Otop1 and the Otop2-Otop3 genes and to establish their genomic context in 25 vertebrates. We extend our evolutionary study to include the gene mutated in Usher syndrome (USH) subtype 1G (Ush1g), both because of the head-to-tail clustering of Ush1g with Otop2 and because Otop1 and Ush1g mutations result in inner ear phenotypes. |
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