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PMID:22982669
| Citation |
Uchino, R, Nonaka, YK, Horigome, T, Sugiyama, S and Furukawa, K (2013) Loss of Drosophila A-type lamin C initially causes tendon abnormality including disintegration of cytoskeleton and nuclear lamina in muscular defects. Dev. Biol. 373:216-27 |
|---|---|
| Abstract |
Lamins are the major components of nuclear envelope architecture, being required for both the structural and informational roles of the nuclei. Mutations of lamins cause a spectrum of diseases in humans, including muscular dystrophy. We report here that the loss of the A-type lamin gene, lamin C in Drosophila resulted in pupal metamorphic lethality caused by tendon defects, matching the characteristics of human A-type lamin revealed by Emery-Dreifuss muscular dystrophy (EDMD). In tendon cells lacking lamin C activity, overall cell morphology was affected and organization of the spectraplakin family cytoskeletal protein Shortstop which is prominently expressed in tendon cells gradually disintegrated, notably around the nucleus and in a manner correlating well with the degradation of musculature. Furthermore, lamin C null mutants were efficiently rescued by restoring lamin C expression to shortstop-expressing cells, which include tendon cells but exclude skeletal muscle cells. Thus the critical function of A-type lamin C proteins in Drosophila musculature is to maintain proper function and morphology of tendon cells. |
| Links |
PubMed Online version:10.1016/j.ydbio.2012.08.001 |
| Keywords |
Animals; Cytoskeleton/metabolism; Cytoskeleton/pathology; DNA Primers/genetics; Drosophila/genetics; Drosophila/growth & development; Drosophila Proteins/metabolism; Immunohistochemistry; Lamin Type A/deficiency; Lamin Type A/genetics; Lamin Type A/metabolism; Microfilament Proteins/metabolism; Nuclear Lamina/metabolism; Nuclear Lamina/pathology; Proteolysis; Pupa/genetics; Pupa/growth & development; Tendons/abnormalities; Tendons/cytology |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0035989: tendon development |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
Notes
See also
References
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