CAMSAP1 Recognized as a “Disease Gene”
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder Reham Khalaf-Nazzal, James Fasham, Katherine A. Inskeep, Lauren E. Blizzard, Joseph S. Leslie, Matthew N. Wakeling, Nishanka Ubeyratna, Tadahiro Mitani, Jennifer L. Griffith, Wisam Baker, Fida’ Al-Hijawi, Karen C. Keough, Alper Gezdirici, Loren Pena, Christine G. Spaeth, Peter D. Turnpenny, Joseph R. Walsh, Randall Ray, Amber Neilson, Evguenia Kouranova, Xiaoxia Cui, David T. Curiel, Davut Pehlivan, Zeynep Coban Akdemir, Jennifer E. Posey, James R. Lupski, William B. Dobyns, Rolf W. Stottmann, Andrew H. Crosby, and Emma L. Baple (Oct. 2022)Download
The following are CAMSAP1 published research articles. Consolidated below the publications are two separate powerpoint presentations (a simplified version and a more scientific version) that I have created to summarize the findings from these publications (created May 2018).
Cell Model Studies
A structural model for microtubule minus-end recognition and protection by CAMSAP proteins
Joseph Atherton, Kai Jiang, Marcel M. Stangier, Yanzhang Luo, Shasha Hua, Klaartje Houben, Jolien J.E. van Hooff, Agnel-Praveen Joseph, Guido Scarabelli, Barry J. Grant, Anthony J. Roberts, Maya Topf, Michel O. Steinmetz, Marc Baldus, Carolyn A. Moores1, and Anna Akhmanova (Nov. 2017)
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Joseph Atherton, Kai Jiang, Marcel M. Stangier, Yanzhang Luo, Shasha Hua, Klaartje Houben, Jolien J.E. van Hooff, Agnel-Praveen Joseph, Guido Scarabelli, Barry J. Grant, Anthony J. Roberts, Maya Topf, Michel O. Steinmetz, Marc Baldus, Carolyn A. Moores1, and Anna Akhmanova (Nov. 2017)
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Microtubule Minus-End Stabilization by Polymerization-Driven CAMSAP Deposition
Kai Jiang, Shasha Hua, Renu Mohan, Ilya Grigoriev, Kah Wai Yau, Qingyang Liu, Eugene A. Katrukha, A.F. Maarten Altelaar, Albert J.R. Heck, Casper C. Hoogenraad, and Anna Akhmanova (Feb. 2014)
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Kai Jiang, Shasha Hua, Renu Mohan, Ilya Grigoriev, Kah Wai Yau, Qingyang Liu, Eugene A. Katrukha, A.F. Maarten Altelaar, Albert J.R. Heck, Casper C. Hoogenraad, and Anna Akhmanova (Feb. 2014)
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A Conserved Sequence in Calmodulin Regulated Spectrin-Associated Protein 1 Links Its Interaction With Spectrin and Calmodulin to Neurite Outgrowth
Mikayala King, Gareth Phillips, Paola Bignone, Nandini Hayes, Jennifer Pinder, and Anthony Baines (Sept. 2013)
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Mikayala King, Gareth Phillips, Paola Bignone, Nandini Hayes, Jennifer Pinder, and Anthony Baines (Sept. 2013)
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Small Organism Model Studies
Caenorhabditis elegans (nematode)
(CAMSAP1 = PTRN-1)
The microtubule minus end binding protein Patronin/PTRN-1 is required for axon regeneration in C. elegans
Marian Chuang, Alexandr Goncharov, Shaohe Wang, Karen Oegema, Yishi Jin, and Andrew D. Chisholm (Nov. 2014)
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Marian Chuang, Alexandr Goncharov, Shaohe Wang, Karen Oegema, Yishi Jin, and Andrew D. Chisholm (Nov. 2014)
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PTRN-1, a microtubule minus end-binding CAMSAP homolog, promotes microtubule function in Caenorhabditis elegans neurons
Claire E Richardson, Kerri A Spilker, Juan G Cueva, John Perrino, Miriam B Goodman, and Kang Shen (Feb. 2014)
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Claire E Richardson, Kerri A Spilker, Juan G Cueva, John Perrino, Miriam B Goodman, and Kang Shen (Feb. 2014)
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The Caenorhabditis elegans microtubule minus-end binding homolog PTRN-1 stabilizes synapses and neurites
Jana Dorfman Marcette, Jessica Jie Chen, and Michael L Nonet (Feb. 2014)
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Jana Dorfman Marcette, Jessica Jie Chen, and Michael L Nonet (Feb. 2014)
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Drosophila (fruitfly)
(CAMSAP1 = Patronin)
Regulation of microtubule minus-end dynamics by CAMSAPs and Patronin
Melissa C. Hendershott and Ronald D. Vale (Apr. 2014)
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Melissa C. Hendershott and Ronald D. Vale (Apr. 2014)
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Patronin Regulates the Microtubule Network by Protecting Microtubule Minus Ends
Sarah S. Goodwin and Ronald D. Vale (Oct. 2010)
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Sarah S. Goodwin and Ronald D. Vale (Oct. 2010)
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CAMSAP1 Rodent Model Studies
CAMSAP1 breaks the homeostatic microtubule network to instruct neuronal polarity
Zhengrong Zhou, Honglin Xua, Yuejia Lia, Mengge Yang, Rui Zhang, Aki Shiraishi, Hiroshi Kiyonari, Xin Liange, Xiahe Huang, Yingchun Wang, Qi Xie, Shuai Liu, Rongqing Chen, Lan Bao, Weixiang Guo, Yu Wang, and Wenxiang Meng (Aug. 2020)Download
Zhengrong Zhou, Honglin Xua, Yuejia Lia, Mengge Yang, Rui Zhang, Aki Shiraishi, Hiroshi Kiyonari, Xin Liange, Xiahe Huang, Yingchun Wang, Qi Xie, Shuai Liu, Rongqing Chen, Lan Bao, Weixiang Guo, Yu Wang, and Wenxiang Meng (Aug. 2020)Download
Results of Our Initial Attempt at Creating a Mouse Knockout Model: Jackson Labs Project Summary (Apr. 2019)
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Our Initial Attempt at Creating a Mouse Knockout Model: Camsap1 Knockout Founder Report (Nov. 2018)
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Brown Stars indicate where the CAMSAP1 gene was cut for our purposes in an attempt to create a knockout mouse model – these CRISPR/cas9 mutations were made to delete exons 2-3 (above).
Blue Star: Landon’s paternal mutation (frameshift) – variant p.T570YfsX17 | Coding DNA c.1707dupT | Heterozygous
Red Star: Landon’s maternal mutation (deletion) – variant p.Q1044X | Coding DNA c3130 C>T | Heterozygous
Note – relative loci of conserved domains CH, CC1, CC2, CC3, and CKK.
Other CAMSAP1 Published Research
Microtubules in Health and Degenerative Disease of the Nervous System
Andrew J. Matamoros and Peter W. Baas (Sept. 2016)
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Andrew J. Matamoros and Peter W. Baas (Sept. 2016)
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05/23/2018:
