{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T02:10:27Z","timestamp":1793412627024,"version":"4.5.0"},"reference-count":30,"publisher":"National Academy of Sciences","issue":"47","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2004,11,23]]},"abstract":"<jats:p>\n                    Bardet\u2013Biedl syndrome (BBS) is a heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, hypogenitalism, and an increased incidence of diabetes and hypertension. No information is available regarding the specific function of BBS2. We show that mice lacking\n                    <jats:italic>Bbs2<\/jats:italic>\n                    gene expression have major components of the human phenotype, including obesity and retinopathy. In addition, these mice have phenotypes associated with cilia dysfunction, including retinopathy, renal cysts, male infertility, and a deficit in olfaction. With the exception of male infertility, these phenotypes are not caused by a complete absence of cilia. We demonstrate that BBS2 retinopathy involves normal retina development followed by apoptotic death of photoreceptors, the primary ciliated cells of the retina. Photoreceptor cell death is preceded by mislocalization of rhodopsin, indicating a defect in transport. We also demonstrate that\n                    <jats:italic>Bbs2<\/jats:italic>\n                    <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    mice and a second BBS mouse model,\n                    <jats:italic>Bbs4<\/jats:italic>\n                    <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    , have a defect in social function. The evaluation of\n                    <jats:italic>Bbs2<\/jats:italic>\n                    <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    mice indicates additional phenotypes that should be evaluated in human patients, including deficits in social interaction and infertility.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0405496101","type":"journal-article","created":{"date-parts":[[2004,11,11]],"date-time":"2004-11-11T20:24:00Z","timestamp":1100204640000},"page":"16588-16593","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":333,"title":["<i>Bbs2<\/i>\n                    -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin"],"prefix":"10.1073","volume":"101","author":[{"given":"Darryl Y.","family":"Nishimura","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Fath","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F.","family":"Mullins","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Searby","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Andrews","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeaneen L.","family":"Andorf","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirk","family":"Mykytyn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth E.","family":"Swiderski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baoli","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Carmi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val C.","family":"Sheffield","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Departments of Ophthalmology and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242; Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Genetic Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva 84101, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2004,11,11]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198910123211503"},{"key":"e_1_3_2_2_2","first-page":"1630","volume":"48","year":"1922","unstructured":"Biedl, A. 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