Document Detail

Mutations in the Drosophila orthologs of the F-actin capping protein alpha- and beta-subunits cause actin accumulation and subsequent retinal degeneration.
MedLine Citation:
PMID:  16143599     Owner:  NLM     Status:  MEDLINE    
The progression of several human neurodegenerative diseases is characterized by the appearance of intracellular inclusions or cytoskeletal abnormalities. An important question is whether these abnormalities actually contribute to the degenerative process or whether they are merely manifestations of cells that are already destined for degeneration. We have conducted a large screen in Drosophila for mutations that alter the growth or differentiation of cells during eye development. We have used mitotic recombination to generate patches of homozygous mutant cells. In our entire screen, mutations in only two different loci, burned (bnd) and scorched (scrd), resulted in eyes in which the mutant patches appeared black and the mutant tissue appeared to have undergone degeneration. In larval imaginal discs, growth and cell fate specification occur normally in mutant cells, but there is an accumulation of F-actin. Mutant cells degenerate much later during the pupal phase of development. burned mutations are allelic to mutations in the previously described cpb locus that encodes the beta-subunit of the F-actin capping protein, while scorched mutations disrupt the gene encoding its alpha-subunit (cpa). The alpha/beta-heterodimer caps the barbed ends of an actin filament and restricts its growth. In its absence, cells progressively accumulate actin filaments and eventually die. A possible role for their human orthologs in neurodegenerative disease merits further investigation.
Ivana Delalle; Cathie M Pfleger; Eugene Buff; Paula Lueras; Iswar K Hariharan
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2005-09-02
Journal Detail:
Title:  Genetics     Volume:  171     ISSN:  0016-6731     ISO Abbreviation:  Genetics     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-12-22     Completed Date:  2006-10-06     Revised Date:  2013-06-09    
Medline Journal Info:
Nlm Unique ID:  0374636     Medline TA:  Genetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1757-65     Citation Subset:  IM    
Massachusetts General Hospital Cancer Center, Charlestown, MA 02129, USA.
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MeSH Terms
Actin Capping Proteins / genetics*
Actin Depolymerizing Factors / genetics
Actins / metabolism*
Drosophila / genetics*
Genetic Testing
Microscopy, Electron, Transmission
Microscopy, Fluorescence
Mutation / genetics*
Photoreceptor Cells, Invertebrate / cytology,  ultrastructure*
Retinal Degeneration / genetics*,  pathology
Grant Support
Reg. No./Substance:
0/Actin Capping Proteins; 0/Actin Depolymerizing Factors; 0/Actins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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