Publication Date:
2010-05-01
Description:
Mirror movements are involuntary contralateral movements that mirror voluntary ones and are often associated with defects in midline crossing of the developing central nervous system. We studied two large families, one French Canadian and one Iranian, in which isolated congenital mirror movements were inherited as an autosomal dominant trait. We found that affected individuals carried protein-truncating mutations in DCC (deleted in colorectal carcinoma), a gene on chromosome 18q21.2 that encodes a receptor for netrin-1, a diffusible protein that helps guide axon growth across the midline. Functional analysis of the mutant DCC protein from the French Canadian family revealed a defect in netrin-1 binding. Thus, DCC has an important role in lateralization of the human nervous system.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Srour, Myriam -- Riviere, Jean-Baptiste -- Pham, Jessica M T -- Dube, Marie-Pierre -- Girard, Simon -- Morin, Steves -- Dion, Patrick A -- Asselin, Geraldine -- Rochefort, Daniel -- Hince, Pascale -- Diab, Sabrina -- Sharafaddinzadeh, Naser -- Chouinard, Sylvain -- Theoret, Hugo -- Charron, Frederic -- Rouleau, Guy A -- New York, N.Y. -- Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center of Excellence in Neuromics, Universite de Montreal, Montreal, QC H2L 2W5, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20431009" target="_blank"〉PubMed〈/a〉
Keywords:
Axons/physiology
;
Codon, Terminator
;
Dyskinesias/*congenital/*genetics
;
Female
;
*Frameshift Mutation
;
Functional Laterality
;
*Genes, DCC
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Genes, Dominant
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Genome-Wide Association Study
;
Haplotypes
;
Humans
;
Male
;
Mutant Proteins/chemistry/metabolism
;
Nerve Growth Factors/metabolism
;
Nervous System/growth & development
;
Pedigree
;
Protein Binding
;
Receptors, Cell Surface/chemistry/genetics/*metabolism
;
Tumor Suppressor Proteins/chemistry/genetics/*metabolism
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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