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Characterization of Novel BBS Mutants in Chlamydomonas reinhardtii
Author(s) -
Mckenzie Nerissa,
Lechtreck Karl F.,
Witman George B.
Publication year - 2010
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.24.1_supplement.lb141
Subject(s) - chlamydomonas reinhardtii , flagellum , chlamydomonas , bardet–biedl syndrome , cilium , biology , mutant , gene , genetics , microbiology and biotechnology , phenotype
Defects of cilia and flagella contribute to a multitude of human diseases, including Bardet‐Biedl Syndrome (BBS), a rare genetically inherited disorder characterized by obesity, retinal degeneration, polydactyly, and mental retardation. Thus far, defects in 12 genes have been linked to BBS, classified as BBS 1–12. Chlamydomonas reinhardtii, a biflagellate unicellular alga, has eight well conserved BBS genes (BBS 1, 2, 3, 4, 5, 7, 8, and 9) suggesting it could serve as unicellular model for BBS. Seven of the eight (excluding BBS3) the gene products form a complex, the BBSome, whose functions are currently unknown. Here, we attempt to characterize 13 BBS mutants, seven containing normal amounts of BBS4 in the flagella but sharing a nonphototactic phenotype with established BBS mutants of Chlamydomonas, five lacking BBS4 in the flagella, and one harboring reduced amounts of BBS4 in the flagella. The goal was to identify the genetic defects in these uncharacterized mutants, and to assay their photo‐behavioral responses. The results suggest that assembly, stability, and/or transport of the BBSome can be impaired despite the presence of the genes encoding all seven BBSome proteins. These findings indicate that other genes are involved in the functionality of the BBSome pathway and that the identification of these genes could further studies of BBS in humans. Supported by NIH T34GM008411