Roundabout homolog 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''ROBO1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some
axon
An axon (from Greek ἄξων ''áxōn'', axis), or nerve fiber (or nerve fibre: see spelling differences), is a long, slender projection of a nerve cell, or neuron, in vertebrates, that typically conducts electrical impulses known as action p ...
s project toward and across the midline in response to long-range
chemoattractants emanating from the midline. The protein encoded by ROBO1 is structurally similar to a
Drosophila
''Drosophila'' () is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many speci ...
integral membrane protein
An integral, or intrinsic, membrane protein (IMP) is a type of membrane protein that is permanently attached to the biological membrane. All ''transmembrane proteins'' are IMPs, but not all IMPs are transmembrane proteins. IMPs comprise a sign ...
which is encoded by the Drosophila roundabout gene (a member of the
immunoglobulin
An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of th ...
gene superfamily) and is both an
axon guidance
Axon guidance (also called axon pathfinding) is a subfield of neural development concerning the process by which neurons send out axons to reach their correct targets. Axons often follow very precise paths in the nervous system, and how they mana ...
receptor and a
cell adhesion
Cell adhesion is the process by which cells interact and attach to neighbouring cells through specialised molecules of the cell surface. This process can occur either through direct contact between cell surfaces such as cell junctions or indire ...
receptor, known to be involved in the decision by axons to cross the central nervous system midline. Two transcript variants encoding different
isoforms
A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some iso ...
have been found for ROBO1.
Clinical significance
''ROBO1'' was implicated in a
communication disorder
A communication disorder is any disorder that affects an individual's ability to comprehend, detect, or apply language and speech to engage in dialogue effectively with others. The delays and disorders can range from simple sound substitution to t ...
based on a
Finnish pedigree with severe
dyslexia
Dyslexia, also known until the 1960s as word blindness, is a disorder characterized by reading below the expected level for one's age. Different people are affected to different degrees. Problems may include difficulties in spelling words, r ...
. Analyses revealed a translocation had occurred disrupting ''ROBO1''.
Study of the
phonological memory component of the
language acquisition system suggests that ''ROBO1''
polymorphisms are associated with functioning in this system.
The gene is thought to be related to the brain's ability to represent
quantities, and is correlated with better math scores of young children in one limited study.
References
Further reading
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