title: Human ROBO1 regulates white matter structure in corpus callosum.
abstract: The axon guidance receptor, Robo1, controls the pathfinding of callosal axons in mice. To determine whether the orthologous ROBO1 gene is involved in callosal development also in humans, we studied polymorphisms in the ROBO1 gene and variation in the white matter structure in the corpus callosum using both structural magnetic resonance imaging and diffusion tensor magnetic resonance imaging. We found that five polymorphisms in the regulatory region of ROBO1 were associated with white matter density in the posterior part of the corpus callosum pathways. One of the polymorphisms, rs7631357, was also significantly associated with the probability of connections to the parietal cortical regions. Our results demonstrate that human ROBO1 may be involved in the regulation of the structure and connectivity of posterior part of corpus callosum.
authors.affiliation: Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Fahimeh
authors.initials: F
authors.lastname: Darki
authors.affiliation: Research Programs Unit, Haartman Institute, University of Helsinki, Helsinki, Finland.|Folkhälsan Institute of Genetics, Helsinki, Finland.
authors.forename: Satu
authors.initials: S
authors.lastname: Massinen
authors.affiliation: Research Programs Unit, Haartman Institute, University of Helsinki, Helsinki, Finland.|Folkhälsan Institute of Genetics, Helsinki, Finland.
authors.forename: Elina
authors.initials: E
authors.lastname: Salmela
authors.affiliation: Department of Biosciences and Nutrition, Karolinska Institutet, Hälsovägen 7, 14183, Huddinge, Sweden.
authors.forename: Hans
authors.initials: H
authors.lastname: Matsson
authors.affiliation: Department of Biosciences and Nutrition, Karolinska Institutet, Hälsovägen 7, 14183, Huddinge, Sweden.
authors.forename: Myriam
authors.initials: M
authors.lastname: Peyrard-Janvid
authors.affiliation: Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Torkel
authors.initials: T
authors.lastname: Klingberg
authors.affiliation: Research Programs Unit, Haartman Institute, University of Helsinki, Helsinki, Finland. juha.kere@ki.se.|Folkhälsan Institute of Genetics, Helsinki, Finland. juha.kere@ki.se.|Department of Biosciences and Nutrition, Karolinska Institutet, Hälsovägen 7, 14183, Huddinge, Sweden. juha.kere@ki.se.|Science for Life Laboratory, Karolinska Institutet, Solna, Sweden. juha.kere@ki.se.
authors.forename: Juha
authors.initials: J
authors.lastname: Kere
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003337:Corpus Callosum / Q000033:anatomy & histology* / Q000254:growth & development*; D038524:Diffusion Magnetic Resonance Imaging; D056324:Diffusion Tensor Imaging; D005838:Genotype; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000502:physiology*; D009434:Neural Pathways / Q000033:anatomy & histology / Q000254:growth & development; D010296:Parietal Lobe / Q000033:anatomy & histology / Q000254:growth & development; D020641:Polymorphism, Single Nucleotide; D011971:Receptors, Immunologic / Q000235:genetics / Q000502:physiology*; D066127:White Matter / Q000033:anatomy & histology* / Q000254:growth & development*; D055815:Young Adult; D000097905:Roundabout Proteins
chemical_list: D009419:Nerve Tissue Proteins; D011971:Receptors, Immunologic; D000097905:Roundabout Proteins
keywords: Axon guidance receptor homolog 1; Axonal pathfinding; DTI; Roundabout; Single nucleotide polymorphism; Structural MRI