About This Item

Ask the MINDS@UW Librarian

Characterization of my18, a mutant exhibiting abnormal expression of the C. elegans polycystic kidney disease gene

Show simple item record

File(s):

Files Size Format View
2007_Mansukhani.pdf 991.5Kb application/pdf View/Open
Key Value Language
dc.contributor.advisor Barr, Maureen M.
dc.contributor.advisor Bae, Young-Kyung
dc.contributor.author Mansukhani, Neel
dc.date.accessioned 2007-05-16T21:50:56Z
dc.date.available 2007-05-16T21:50:56Z
dc.date.issued 2007
dc.identifier.uri http://digital.library.wisc.edu/1793/7961
dc.description 18 p. en
dc.description.abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disorder affecting 1/400 to 1/800 individuals in the population. Mutations in the human genes PKD1 and PKD2, which encode Polycystin-l (PC-I) and Polycystin-2 (PC-2), respectively, account for 95% of ADPKD cases. Defects in sensory receptor localization in cilia, or cilia formation may contribute to many human diseases including ADPKD. The nematode Caenorhabditis elegans uses sensory cilia localized to the end ofsensory neurons to perceive environmental stimuli. Sensory information is integrated and used to determine appropriate behavioral responses. The C. elegans ADPKD gene homologs lov1/PC-l and pkd-2/PC-2 localize and function in male specific sensory cilia, and are required for proper male mating behavior. A pilot mutagenesis screen isolated 21 separate mutations affecting PKD-2 ciliary localization, which were grouped into three categories. This research was done on my18, a nlutation which effects PKD-2 expression at the transcription level. In a subset ofmy18 males, tail fan formation is defective, which maybe responsible for defects in male mating behavior. Furthermore, in my18 males with normal tail fan formation mating behavior and efficiency was compromised compared to wild type. Linkage analysis mapped my18 to chromosome IV, and further mapping experiments are in progress. en
dc.description.provenance Submitted by Beverly Phillips (bphillips@library.wisc.edu) on 2007-05-16T21:47:46Z No. of bitstreams: 1 2007_Mansukhani.pdf: 991559 bytes, checksum: 89c53b53d8411339a1a0fc93c80934f3 (MD5) en
dc.description.provenance Approved for entry into archive by Beverly Phillips(bphillips@library.wisc.edu) on 2007-05-16T21:50:56Z (GMT) No. of bitstreams: 1 2007_Mansukhani.pdf: 991559 bytes, checksum: 89c53b53d8411339a1a0fc93c80934f3 (MD5) en
dc.description.provenance Made available in DSpace on 2007-05-16T21:50:56Z (GMT). No. of bitstreams: 1 2007_Mansukhani.pdf: 991559 bytes, checksum: 89c53b53d8411339a1a0fc93c80934f3 (MD5) en
dc.format.extent 991559 bytes
dc.format.mimetype application/pdf
dc.language.iso en en
dc.subject Genetics en
dc.title Characterization of my18, a mutant exhibiting abnormal expression of the C. elegans polycystic kidney disease gene en
dc.type Thesis en

Part of

Show simple item record