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The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.

Author(s): Milev MP, Saint-Dic D, Zardoui K, Klopstock T, Law C, Distelmaier F, Sacher M

TANGO2 variants result in a complex disease phenotype consisting of recurrent crisis-induced rhabdomyolysis, encephalopathy, seizures, lactic acidosis, hypoglycemia, and cardiac arrhythmias. Although first described in a fruit fly model as a protein necessa...

Article GUID: 32909282
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Author(s): Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Benito DN, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Q...

Sci Rep. 2019 Oct 01;9(1):14036 Authors: Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Benito DN, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, ...

Article GUID: 31575891
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Author(s): Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D...

Am J Hum Genet. 2017 Aug 03;101(2):291-299 Authors: Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Ed...

Article GUID: 28777934
TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment.

Author(s): Milev MP, Hasaj B, Saint-Dic D, Snounou S, Zhao Q, Sacher M

J Cell Biol. 2015 Apr 27;209(2):221-34 Authors: Milev MP, Hasaj B, Saint-Dic D, Snounou S, Zhao Q, Sacher M

Article GUID: 25918224
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Author(s): Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-D...

J Med Genet. 2018 Nov;55(11):753-764 Authors: Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri...

Article GUID: 30120216
TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.

Author(s): Stanga D, Zhao Q, Milev MP, Saint-Dic D, Jimenez-Mallebrera C, Sacher M

Traffic. 2019 May;20(5):325-345 Authors: Stanga D, Zhao Q, Milev MP, Saint-Dic D, Jimenez-Mallebrera C, Sacher M

Article GUID: 30843302
Title:TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment.
Authors:Milev MP,  Hasaj B,  Saint-Dic D,  Snounou S,  Zhao Q,  Sacher M
Link:https://www.ncbi.nlm.nih.gov/pubmed/25918224?dopt=Abstract
DOI:10.1083/jcb.201501090
Category:J Cell Biol
PMID:25918224
Dept Affiliation: BIOLOGY
1 Department of Biology, Concordia University, Montreal, Quebec H4B 1R6, Canada.
2 Department of Biology, Concordia University, Montreal, Quebec H4B 1R6, Canada Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A 0C7, Canada michael.sacher@concordia.ca.

Description:

TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment.

J Cell Biol. 2015 Apr 27;209(2):221-34

Authors: Milev MP, Hasaj B, Saint-Dic D, Snounou S, Zhao Q, Sacher M

Abstract

Chromosome congression requires the stable attachment of microtubules to chromosomes mediated by the kinetochore, a large proteinaceous structure whose mechanism of assembly is unknown. In this paper, we present the finding that a protein called TRAMM (formerly known as TrappC12) plays a role in mitosis. Depletion of TRAMM resulted in noncongressed chromosomes and arrested cells in mitosis. Small amounts of TRAMM associated with chromosomes, and its depletion affected the localization of some kinetochore proteins, the strongest effect being seen for CENP-E. TRAMM interacts with CENP-E, and depletion of TRAMM prevented the recruitment of CENP-E to the kinetochore. TRAMM is phosphorylated early in mitosis and dephosphorylated at the onset of anaphase. Interestingly, this phosphorylation/dephosphorylation cycle correlates with its association/disassociation with CENP-E. Finally, we demonstrate that a phosphomimetic form of TRAMM recruited CENP-E to kinetochores more efficiently than did the nonphosphorylatable mutant. Our study identifies a moonlighting function for TRAMM during mitosis and adds a new component that regulates kinetochore stability and CENP-E recruitment.

PMID: 25918224 [PubMed - indexed for MEDLINE]