ROBO1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Roundabout, axon guidance receptor, homolog 1 (Drosophila)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ROBO1 ; DUTT1; SAX3
External IDs OMIM602430 MGI1274781 HomoloGene2206 GeneCards: ROBO1 Gene
Orthologs
Species Human Mouse
Entrez 6091 19876
Ensembl ENSG00000169855 ENSMUSG00000022883
UniProt Q9Y6N7 O89026
RefSeq (mRNA) NM_001145845 NM_019413
RefSeq (protein) NP_001139317 NP_062286
Location (UCSC) Chr 3:
78.65 – 79.82 Mb
Chr 16:
72.66 – 73.05 Mb
PubMed search [1] [2]

Roundabout homolog 1 is a protein that in humans is encoded by the ROBO1 gene.[1][2][3]

Function[edit]

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline]. In Drosophila, the roundabout gene, a member of the immunoglobulin gene superfamily, encodes an integral membrane protein that is both an axon guidance receptor and a cell adhesion receptor. This receptor is involved in the decision by axons to cross the central nervous system midline. The protein encoded by this gene is structurally similar to the Drosophila roundabout protein. Two transcript variants encoding different isoforms have been found for this gene.[3]

Clinical significance[edit]

ROBO1 was implicated in communication disorder based on a Finnish pedigree with severe dyslexia. Analyses revealed a translocation had occurred disrupting ROBO1.[4] Study of the phonological memory component of the language acquisition system suggests that ROBO1 polymorphisms are associated with functioning in this system.[5]

References[edit]

  1. ^ Kidd T, Brose K, Mitchell KJ, Fetter RD, Tessier-Lavigne M, Goodman CS, Tear G (Feb 1998). "Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors". Cell 92 (2): 205–15. doi:10.1016/S0092-8674(00)80915-0. PMID 9458045. 
  2. ^ Sundaresan V, Roberts I, Bateman A, Bankier A, Sheppard M, Hobbs C, Xiong J, Minna J, Latif F, Lerman M, Rabbitts P (Aug 1998). "The DUTT1 gene, a novel NCAM family member is expressed in developing murine neural tissues and has an unusually broad pattern of expression". Mol Cell Neurosci 11 (1–2): 29–35. doi:10.1006/mcne.1998.0672. PMID 9608531. 
  3. ^ a b "Entrez Gene: ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)". 
  4. ^ Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kääriäinen H, Kere J (October 2005). "The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia". PLoS Genet. 1 (4): e50. doi:10.1371/journal.pgen.0010050. PMC 1270007. PMID 16254601. 
  5. ^ Bates TC, Luciano M, Medland SE, Montgomery GW, Wright MJ, Martin NG (January 2011). "Genetic variance in a component of the language acquisition device: ROBO1 polymorphisms associated with phonological buffer deficits". Behav. Genet. 41 (1): 50–7. doi:10.1007/s10519-010-9402-9. PMID 20949370. 

Further reading[edit]