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Goetz, Sarah Catherine

Positions:

Assistant Professor of Pharmacology & Cancer Biology

Pharmacology & Cancer Biology
School of Medicine

Assistant Professor of Cell Biology

Cell Biology
School of Medicine

Member of the Duke Cancer Institute

Duke Cancer Institute
School of Medicine

Affiliate of the Regeneration Next Initiative

Regeneration Next Initiative
School of Medicine

Education:

B.A. 2001

B.A. — Macalester College

Ph.D. 2007

Ph.D. — University of North Carolina at Chapel Hill

Grants:

Organization and Function of Cellular Structure

Administered By
Basic Science Departments
AwardedBy
National Institutes of Health
Role
Mentor
Start Date
July 01, 1975
End Date
June 30, 2020

Pharmacological Sciences Training Program

Administered By
Pharmacology & Cancer Biology
AwardedBy
National Institutes of Health
Role
Participating Faculty Member
Start Date
July 01, 1975
End Date
June 30, 2020

Pharmacology Industry Internships for Ph.D. Students

Administered By
Pharmacology & Cancer Biology
AwardedBy
American Society for Pharmacology and Experimental Therapeutics
Role
Participating Faculty Member
Start Date
January 01, 2017
End Date
December 31, 2019

Characterizing the role of TTBK proteins in ciliogenesis and neural function

Administered By
Pharmacology & Cancer Biology
AwardedBy
National Institutes of Health
Role
Principal Investigator
Start Date
September 09, 2013
End Date
March 31, 2018

Training Program in Developmental and Stem Cell Biology

Administered By
Basic Science Departments
AwardedBy
National Institutes of Health
Role
Mentor
Start Date
May 01, 2001
End Date
October 31, 2017
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Publications:

The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.

The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins. To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. We find that Mks1; Bbs4 double mutant mouse embryos exhibit exacerbated defects in Hedgehog (Hh) dependent patterning compared to either single mutant, and die by E14.5. Cells from double mutant embryos exhibit a defect in the trafficking of ARL13B, a ciliary membrane protein, resulting in disrupted ciliary structure and signaling. We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. Despite each single mutant surviving until around birth, Mks1; Ift172avc1 double mutants die at mid-gestation, and exhibit a dramatic failure of cilia formation. We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor. Thus, we have demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium. Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure.

Authors
Goetz, SC; Bangs, F; Barrington, CL; Katsanis, N; Anderson, KV
MLA Citation
Goetz, SC, Bangs, F, Barrington, CL, Katsanis, N, and Anderson, KV. "The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling." PloS one 12.3 (January 2017): e0173399-.
PMID
28291807
Source
epmc
Published In
PloS one
Volume
12
Issue
3
Publish Date
2017
Start Page
e0173399
DOI
10.1371/journal.pone.0173399

The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis

Authors
Goetz, SC; Liem, KF; Anderson, KV
MLA Citation
Goetz, SC, Liem, KF, and Anderson, KV. "The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis." Cell 151.4 (November 2012): 847-858.
Source
crossref
Published In
Cell
Volume
151
Issue
4
Publish Date
2012
Start Page
847
End Page
858
DOI
10.1016/j.cell.2012.10.010

The primary cilium: a signalling centre during vertebrate development

Authors
Goetz, SC; Anderson, KV
MLA Citation
Goetz, SC, and Anderson, KV. "The primary cilium: a signalling centre during vertebrate development." Nature Reviews Genetics 11.5 (May 2010): 331-344.
Source
crossref
Published In
Nature Reviews Genetics
Volume
11
Issue
5
Publish Date
2010
Start Page
331
End Page
344
DOI
10.1038/nrg2774

The primary cilium as a Hedgehog signal transduction machine.

The Hedgehog (Hh) signal transduction pathway is essential for the development and patterning of numerous organ systems, and has important roles in a variety of human cancers. Genetic screens for mouse embryonic patterning mutants first showed a connection between mammalian Hh signaling and intraflagellar transport (IFT), a process required for construction of the primary cilium, a small cellular projection found on most vertebrate cells. Additional genetic and cell biological studies have provided very strong evidence that mammalian Hh signaling depends on the primary cilium. Here, we review the evidence that defines the integral roles that IFT proteins and cilia play in the regulation of the Hh signal transduction pathway in vertebrates. We discuss the mechanisms that control localization of Hh pathway proteins to the cilium, focusing on the transmembrane protein Smoothened (Smo), which moves into the cilium in response to Hh ligand. The phenotypes caused by loss of cilia-associated proteins are complex, which suggests that cilia and IFT play active roles in mediating Hh signaling rather than serving simply as a compartment in which pathway components are concentrated. Hh signaling in Drosophila does not depend on cilia, but there appear to be ancient links between cilia and components of the Hh pathway that may reveal how this fundamental difference between the Drosophila and mammalian Hh pathways arose in evolution. 2009 Elsevier Inc. All rights reserved.

Authors
Goetz, SC; Ocbina, PJR; Anderson, KV
MLA Citation
Goetz, SC, Ocbina, PJR, and Anderson, KV. "The primary cilium as a Hedgehog signal transduction machine." Methods in cell biology 94 (2009): 199-222.
Source
scival
Published In
Methods in cell biology
Volume
94
Publish Date
2009
Start Page
199
End Page
222
DOI
10.1016/S0091-679X(08)94010-3

SHP-2 is required for the maintenance of cardiac progenitors

Authors
Langdon, YG; Goetz, SC; Berg, AE; Swanik, JT; Conlon, FL
MLA Citation
Langdon, YG, Goetz, SC, Berg, AE, Swanik, JT, and Conlon, FL. "SHP-2 is required for the maintenance of cardiac progenitors." Development 134.22 (October 17, 2007): 4119-4130.
Source
crossref
Published In
Development (Cambridge)
Volume
134
Issue
22
Publish Date
2007
Start Page
4119
End Page
4130
DOI
10.1242/dev.009290

Cardiac Progenitors and the Embryonic Cell Cycle

Authors
Goetz, SC; Conlon, F
MLA Citation
Goetz, SC, and Conlon, F. "Cardiac Progenitors and the Embryonic Cell Cycle." Cell Cycle 6.16 (August 15, 2007): 1974-1981.
Source
crossref
Published In
Cell Cycle
Volume
6
Issue
16
Publish Date
2007
Start Page
1974
End Page
1981
DOI
10.4161/cc.6.16.4584

TBX5 is required for embryonic cardiac cell cycle progression

Authors
Goetz, SC
MLA Citation
Goetz, SC. "TBX5 is required for embryonic cardiac cell cycle progression." Development 133.13 (July 1, 2006): 2575-2584.
Source
crossref
Published In
Development (Cambridge)
Volume
133
Issue
13
Publish Date
2006
Start Page
2575
End Page
2584
DOI
10.1242/dev.02420

Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis

Authors
Brown, DD
MLA Citation
Brown, DD. "Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis." Development 132.3 (January 5, 2005): 553-563.
Source
crossref
Published In
Development (Cambridge)
Volume
132
Issue
3
Publish Date
2005
Start Page
553
End Page
563
DOI
10.1242/dev.01596
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