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The ciliopathy gene nphp 2 functions in multiple gene networks and regulates ciliogenesis in c. elegans

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Title
The ciliopathy gene nphp 2 functions in multiple gene networks and regulates ciliogenesis in c. elegans
Name (type = personal)
NamePart (type = family)
Warburton-Pitt
NamePart (type = given)
Simon
NamePart (type = date)
1985-
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Simon Warburton-Pitt
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RoleTerm (authority = RULIB)
author
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Barr
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Maureen
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Maureen Barr
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Advisory Committee
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chair
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NamePart (type = family)
Driscoll
NamePart (type = given)
Monica
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Monica Driscoll
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Advisory Committee
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internal member
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Grant
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Barth
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Barth Grant
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Advisory Committee
Role
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internal member
Name (type = personal)
NamePart (type = family)
Firestein
NamePart (type = given)
Bonnie
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Bonnie Firestein
Affiliation
Advisory Committee
Role
RoleTerm (authority = RULIB)
outside member
Name (type = corporate)
NamePart
Rutgers University
Role
RoleTerm (authority = RULIB)
degree grantor
Name (type = corporate)
NamePart
Graduate School - New Brunswick
Role
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school
TypeOfResource
Text
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theses
OriginInfo
DateCreated (encoding = w3cdtf); (qualifier = exact)
2015
DateOther (qualifier = exact); (type = degree)
2015-01
CopyrightDate (encoding = w3cdtf); (qualifier = exact)
2015
Place
PlaceTerm (type = code)
xx
Language
LanguageTerm (authority = ISO639-2b); (type = code)
eng
Abstract (type = abstract)
Cilia are hair like organelles that function as cellular antennae. Cilia are conserved across eukaryotes, and play a vital role in many biological processes including signal transduction, signal cascades, cell cell signaling, cell orientation, cell cell adhesion, motility, interorganismal communication, building extracellular matrix, and inducing fluid flow. In humans, cilia are present in a majority of tissue types, and cilia dysfunction can lead to a range of syndromic ciliopathies, including nephronopthisis (NPHP) and Meckel Syndrome (MKS). Cilia have a microtubule backbone, the axoneme, and are composed of multiple subcompartments, each with a specific function and composition: the transition zone (TZ) anchoring to the axoneme to the membrane, the doublet region extending from the TZ, and in some cilia types, the singlet region extending from the doublet region. The nematode C. elegans is a well established model of cilia biology, and possesses cilia at the distal end of sensory dendrites. My work focused on exploring the role and function of nphp 2, the C. elegans ortholog of mammalian INVS/NPHP2, and the relationships between nphp 2, the TZ, and the doublet region. I found that TZ associated genes can be grouped into two redundant genetic modules that interact with nphp 2 cell type specific manner to regulate ciliogenesis and cilia placement. I also found that, like its ortholog Inversin (encoded by INVS), NPHP 2 localizes to the eponymous Inversin compartment, a subportion of the doublet region. nphp 2 genetically interacts with other doublet region-associated genes; like TZ associated genes, these interactions can also be organized into two redundant genetic modules. The doublet region modules regulate many aspects of cilia biology, including ciliogenesis, cilia placement, microtubule patterning, tubulin post translational modification, and doublet region composition. Additionally, I characterized a positive and a negative regulator of the doublet region modules. Together, these results help knit together data from mammalian models and C. elegans, and build a genetic framework between nphp 2 and genes from multiple ciliary compartments, pulling together what were disparate threads to lead us to a better understanding of cilia biology.
Subject (authority = RUETD)
Topic
Microbiology and Molecular Genetics
Subject (authority = ETD-LCSH)
Topic
Cilia and ciliary motion
Subject (authority = ETD-LCSH)
Topic
Caenorhabditis elegans--Genetics
RelatedItem (type = host)
TitleInfo
Title
Rutgers University Electronic Theses and Dissertations
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ETD
Identifier
ETD_6088
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electronic resource
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application/pdf
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text/xml
Extent
1 online resource (xii, 247 p. : ill.)
Note (type = degree)
Ph.D.
Note (type = bibliography)
Includes bibliographical references
Note (type = statement of responsibility)
by Simon Warburton-Pitt
RelatedItem (type = host)
TitleInfo
Title
Graduate School - New Brunswick Electronic Theses and Dissertations
Identifier (type = local)
rucore19991600001
Location
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NjNbRU
Identifier (type = doi)
doi:10.7282/T3V40WX3
Genre (authority = ExL-Esploro)
ETD doctoral
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Rights

RightsDeclaration (ID = rulibRdec0006)
The author owns the copyright to this work.
RightsHolder (type = personal)
Name
FamilyName
Warburton-Pitt
GivenName
Simon
Role
Copyright Holder
RightsEvent
Type
Permission or license
DateTime (encoding = w3cdtf); (qualifier = exact); (point = start)
2014-12-19 11:40:01
AssociatedEntity
Name
Simon Warburton-Pitt
Role
Copyright holder
Affiliation
Rutgers University. Graduate School - New Brunswick
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Type
License
Name
Author Agreement License
Detail
I hereby grant to the Rutgers University Libraries and to my school the non-exclusive right to archive, reproduce and distribute my thesis or dissertation, in whole or in part, and/or my abstract, in whole or in part, in and from an electronic format, subject to the release date subsequently stipulated in this submittal form and approved by my school. I represent and stipulate that the thesis or dissertation and its abstract are my original work, that they do not infringe or violate any rights of others, and that I make these grants as the sole owner of the rights to my thesis or dissertation and its abstract. I represent that I have obtained written permissions, when necessary, from the owner(s) of each third party copyrighted matter to be included in my thesis or dissertation and will supply copies of such upon request by my school. I acknowledge that RU ETD and my school will not distribute my thesis or dissertation or its abstract if, in their reasonable judgment, they believe all such rights have not been secured. I acknowledge that I retain ownership rights to the copyright of my work. I also retain the right to use all or part of this thesis or dissertation in future works, such as articles or books.
RightsEvent
DateTime (encoding = w3cdtf); (qualifier = exact); (point = start)
2015-01-31
DateTime (encoding = w3cdtf); (qualifier = exact); (point = end)
2017-01-30
Type
Embargo
Detail
Access to this PDF has been restricted at the author's request. It will be publicly available after January 30th, 2017.
Copyright
Status
Copyright protected
Availability
Status
Open
Reason
Permission or license
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RULTechMD (ID = TECHNICAL1)
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ETD
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windows xp
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