Reference Report

Reference
Citation	Muñoz-Alarcón, A., Pavlovic, M., Wismar, J., Schmitt, B., Eriksson, M., Kylsten, P., Dushay, M.S. (2007). Characterization of lamin mutation phenotypes in Drosophila and comparison to human laminopathies. PLoS ONE 2(6): e532. (Export to RIS)
FlyBase ID	FBrf0210262
Publication Type	Research paper
PubMed ID	17565385
PubMed Abstract	Lamins are intermediate filament proteins that make up the nuclear lamina, a matrix underlying the nuclear membrane in all metazoan cells that is important for nuclear form and function. Vertebrate A-type lamins are expressed in differentiating cells, while B-type lamins are expressed ubiquitously. Drosophila has two lamin genes that are expressed in A- and B-type patterns, and it is assumed that similarly expressed lamins perform similar functions. However, Drosophila and vertebrate lamins are not orthologous, and their expression patterns evolved independently. It is therefore of interest to examine the effects of mutations in lamin genes. Mutations in the mammalian lamin A/C gene cause a range of diseases, collectively called laminopathies, that include muscular dystrophies and premature aging disorders. We compared the sequences of lamin genes from different species, and we have characterized larval and adult phenotypes in Drosophila bearing mutations in the lam gene that is expressed in the B-type pattern. Larvae move less and show subtle muscle defects, and surviving lam adults are flightless and walk like aged wild-type flies, suggesting that lam phenotypes might result from neuromuscular defects, premature aging, or both. The resemblance of Drosophila lam phenotypes to human laminopathies suggests that some lamin functions may be performed by differently expressed genes in flies and mammals. Such still-unknown functions thus would not be dependent on lamin gene expression pattern, suggesting the presence of other lamin functions that are expression dependent. Our results illustrate a complex interplay between lamin gene expression and function through evolution.
DOI	10.1371/journal.pone.0000532
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Language of Publication	English
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Publication Type	Journal
Abbreviation	PLoS ONE
Title	PLoS ONE
Publication Year	2006-
ISBN/ISSN	1932-6203
Data from Reference
Aberrations (1)
	Df(2L)cl-h1
Alleles (14)
	Hsap\LMNA^{Scer\UAS.cMAa} Hsap\LMNA^{Δ150.Scer\UAS} Lam⁰⁴⁶⁴³ Lam^D395 Lam^G262 Lam^P Lam^{Scer\UAS.cMAa} LamC^{Scer\UAS.cMAa} Scer\GAL4^arm.PS Scer\GAL4^C23 Scer\GAL4^da.G32 Scer\GAL4^He.PZ Scer\GAL4^how-24B Scer\GAL4^nrv2.PS
Constructs (8)
	P{GAL4-arm.S} P{GAL4-da.G32} P{He-GAL4.Z} P{nrv2-GAL4.S} P{UAS-Lam.MA} P{UAS-LamC.MA} P{UAS-LMNA.MA} P{UAS-LMNA.Δ150}
Genes (4)
	Hsap\LMNA Lam LamC Scer\GAL4
Insertions (7)
	P{GawB}C23 P{GawB}how^24B P{lacW}Lam^P P{PTT-GB}Lam^G262 P{PZ}Lam⁰⁴⁶⁴³ P{UAS-Lam.MA}354 P{UAS-Lam.MA}357
Natural transposons (1)
	P-element