This report describes mirror movements 1, a movement disorder in which contralateral involuntary movements mirror voluntary ones. The human gene implicated is DCC, which encodes a netrin 1 receptor. There is one high-scoring fly ortholog, Dmel\fra, the only Drosophila metabotropic glutamate receptor, for which multiple genetic reagents, including amorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
UAS constructs of Hsap\DCC have been introduced into flies, including wild-type DCC and genes carrying variants associated with the human disease. See the 'Disease-Implicated Variants' table below.
Amorphic alleles of Dmel\fra exhibit midline crossing defects in the embryonic ventral nerve cord. Functional complementation (heterologous rescue) of this phenotype has been demonstrated using both wild-type Hsap\DCC and constructs bearing disease-implicated variants.
[updated Nov. 2024 by FlyBase; FBrf0222196]
[MIRROR MOVEMENTS 1; MRMV1](https://omim.org/entry/157600)
[DCC NETRIN 1 RECEPTOR; DCC](https://omim.org/entry/120470)
Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008, pubmed:19127048] and Srour et al., 2010, pubmed:20431009]). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017, pubmed:28250454). [from MIM:157600; 2024.11.19]
Mirror movements 1 (MRMV1) is caused by heterozygous loss-of-function mutation in the DCC gene on chromosome 18q21. [from MIM:157600; 2024.11.19]
The transmission pattern of MRMV1 in the family reported by Srour et al., 2009, pubmed:19720981) was consistent with autosomal dominant inheritance with incomplete penetrance. [from MIM:157600; 2024.11.19]
The DCC gene encodes a functional receptor for netrin and mediates axon outgrowth and the steering response (summary by Li et al., 2004, pubmed: 15494734). [from MIM:120470; 2024.11.19]
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
Two to one (2 human to 1 Drosophila); DCC has one high-scoring Drosophila ortholog, fra.
High-scoring ortholog of human DCC and NEO1 (1 Drosophila to 2 human).
