An essential step of kinetochore formation controlled by the <scp>SNARE</scp> protein Snap29

Morelli, Elena; Mastrodonato, Valeria; Beznoussenko, Galina V.; Mironov, Alexandre; Tognon, Emiliana; Vaccari, Thomas

doi:10.15252/embj.201693991

Cited by 16 publications

(20 citation statements)

References 54 publications

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“…Surprisingly, we have recently found that during cell division Snap29 acts as a component of the kinetochore, the mitotic structure that connect condensed chromosomes to spindle microtubules 33. In D. melanogaster cells, we have observed relocalization of Snap29 to forming kinetochores at the onset of mitosis.…”

Section: A Non Trafficking Role Of Snap29 Points To a New Model Of Oumentioning

confidence: 79%

How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health

Mastrodonato¹,

Morelli²,

Vaccari³

2018

CST

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Despite extensive study, regulation of membrane trafficking is incompletely understood. In particular, the specific role of SNARE (Soluble NSF Attachment REceptor) proteins for distinct trafficking steps and their mechanism of action, beyond the core function in membrane fusion, are still elusive. Snap29 is a SNARE protein related to Snap25 that gathered a lot of attention in recent years. Here, we review the study of Snap29 and its emerging involvement in autophagy, a self eating process that is key to cell adaptation to changing environments, and in other trafficking pathways. We also discuss Snap29 role in synaptic transmission and in cell division, which might extend the repertoire of SNARE-mediated functions. Finally, we present evidence connecting Snap29 to human disease, highlighting the importance of Snap29 function in tissue development and homeostasis.

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Section: A Non Trafficking Role Of Snap29 Points To a New Model Of Oumentioning

confidence: 79%

How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health

Mastrodonato¹,

Morelli²,

Vaccari³

2018

CST

Self Cite

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“…In D. melanogaster , for instance, no ortholog of Dsn1 or Zwint was identified, whereas two closely related and functionally redundant paralogs of Pmf1 Nnf1 (Nnf1a and Nnf1b) exist [243,244,245,246]. Furthermore, the unconventional SNARE family member Snap29 was recently shown to localize to kinetochores and to be required for KMN assembly in this organism [247]. In biochemical reconstitutions, the Drosophila Mis12 complex is highly stable in the absence of Dsn1 (unlike the human and yeast complexes) [245,246].…”

Section: The Outer Kinetochorementioning

confidence: 99%

A Molecular View of Kinetochore Assembly and Function

Musacchio

Desai

2017

Biology

487

623

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Kinetochores are large protein assemblies that connect chromosomes to microtubules of the mitotic and meiotic spindles in order to distribute the replicated genome from a mother cell to its daughters. Kinetochores also control feedback mechanisms responsible for the correction of incorrect microtubule attachments, and for the coordination of chromosome attachment with cell cycle progression. Finally, kinetochores contribute to their own preservation, across generations, at the specific chromosomal loci devoted to host them, the centromeres. They achieve this in most species by exploiting an epigenetic, DNA-sequence-independent mechanism; notable exceptions are budding yeasts where a specific sequence is associated with centromere function. In the last 15 years, extensive progress in the elucidation of the composition of the kinetochore and the identification of various physical and functional modules within its substructure has led to a much deeper molecular understanding of kinetochore organization and the origins of its functional output. Here, we provide a broad summary of this progress, focusing primarily on kinetochores of humans and budding yeast, while highlighting work from other models, and present important unresolved questions for future studies.

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“…SNAP29 functions in a number of cellular pathways, including autophagosome-lysosomal fusion, endocytosis, and kinetochore formation 5,17,26,27 . Based on the work of Schiller et al, we postulate that abnormal SNAP29-regulated autophagy contributes to epidermal hypoplasia and disrupted lamellar body function 9 , as was found in homozygous mutants on the inbred genetic background.…”

Section: Discussionmentioning

confidence: 99%

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

et al. 2019

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Synaptosomal-associated protein 29 (SNAP29) encodes a member of the SNARE family of proteins implicated in numerous intracellular protein trafficking pathways. SNAP29 maps to the 22q11.2 region and is deleted in 90% of patients with 22q11.2 deletion syndrome (22q11.2DS). Moreover, bi-allelic SNAP29 mutations in patients are responsible for CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome. A mouse model that recapitulates abnormalities found in these syndromes is essential for uncovering the cellular basis of these disorders. In this study, we report that mice with a loss of function mutation of Snap29 on a mixed CD1;FvB genetic background recapitulate skin abnormalities associated with CEDNIK, and also phenocopy neurological and ophthalmological abnormalities found in CEDNIK and a subset of 22q11.2DS patients. Our work also reveals an unanticipated requirement for Snap29 in male fertility and supports contribution of hemizygosity for SNAP29 to the phenotypic spectrum of abnormalities found in 22q11.2DS patients.

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An essential step of kinetochore formation controlled by the SNARE protein Snap29

Cited by 16 publications

References 54 publications

How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health

How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health

A Molecular View of Kinetochore Assembly and Function

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

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