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The XLMR gene ACSL4 plays a role in dendritic spine architecture.

Authors: Meloni, I  Parri, V  De Filippis, R  Ariani, F  Artuso, R  Bruttini, M  Katzaki, E  Longo, I  Mari, F  Bellan, C  Dotti, CG  Renieri, A 
Citation: Meloni I, etal., Neuroscience. 2009 Mar 17;159(2):657-69. Epub 2008 Dec 24.
Pubmed: (View Article at PubMed) PMID:19166906
DOI: Full-text: DOI:10.1016/j.neuroscience.2008.11.056

ACSL4 is a gene involved in non-syndromic X-linked mental retardation. It encodes for a ubiquitous protein that adds coenzyme A to long-chain fatty acids, with a high substrate preference for arachidonic acid. It presents also a brain-specific isoform deriving from an alternative splicing and containing 41 additional N-terminal amino acids. To start to unravelling the link between ACSL4 and mental retardation, we have performed molecular and cell biological studies. By retro-transcription polymerase chain reaction analyses we identified a new transcript with a shorter 5'-UTR region. By immunofluorescence microscopy in embryonic rat hippocampal neurons we report that ACSL4 is associated preferentially to endoplasmic reticulum tubules. ACSL4 knockdown by siRNAs in hippocampal neurons indicated that this protein is largely dispensable for these cells' gross architectural features (i.e. axonal and dendritic formation and final length) yet it is required for the presence of normal spines. In fact, reduced levels of ACSL4 led to a significant reduction in dendritic spine density and an alteration in spine/filopodia distribution. The possible mechanisms behind this phenotype are discussed.


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CRRD Object Information
CRRD ID: 2312805
Created: 2009-09-04
Species: All species
Last Modified: 2009-09-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.