publication . Article . Other literature type . 2003

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Ansley, Stephen J.; Badano, Jose L.; Blacque, Oliver E.; Hill, Josephine; Hoskins, Bethan E.; Leitch, Carmen C.; Chul Kim, Jun; Ross, Alison J.; Eichers, Erica R.; Teslovich, Tanya M.; ...
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  • Published: 21 Sep 2003 Journal: Nature, volume 425, pages 628-633 (issn: 0028-0836, eissn: 1476-4687, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
Abstract
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility. In one family, a homozygous null BBS8 mutation leads to BBS with randomization of left-right body axis symmetry, a known defect of the nodal cilium. We hav...
Subjects
Medical Subject Headings: congenital, hereditary, and neonatal diseases and abnormalities
free text keywords: Multidisciplinary, BBS1, Ciliogenesis, Basal body, Cilium, BBS10, Genetics, Biology, BBS5, BBSome, Bardet–Biedl syndrome, medicine.disease, medicine
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publication . Article . Other literature type . 2003

Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Ansley, Stephen J.; Badano, Jose L.; Blacque, Oliver E.; Hill, Josephine; Hoskins, Bethan E.; Leitch, Carmen C.; Chul Kim, Jun; Ross, Alison J.; Eichers, Erica R.; Teslovich, Tanya M.; ...