Establishing a connection between cilia and Bardet-Biedl Syndrome.
Bardet-Biedl Syndrome (BBS) is a gentic disorder with primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BBS protein function. Ansley at al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.
Mykytyn
Kirk
K
Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, 43210, USA.
Sheffield
Val C
VC
D020788:Bardet-Biedl Syndrome / Q000209:etiology / Q000235:genetics*; D002923:Cilia / Q000378:metabolism / Q000502:physiology*; D006801:Humans; D007619:Kartagener Syndrome / Q000209:etiology; D011506:Proteins / Q000235:genetics / Q000378:metabolism; D012162:Retinal Degeneration / Q000209:etiology
D011506:Proteins