The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia
Open accessAbstract
Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome 3, DYX5, has been linked to dyslexia in one large family and speech-sound disorder in a subset of small families. We found that the axon guidance receptor gene ROBO1, orthologous to the Drosophila roundabout gene, is disrupted by a chromosome translocation in a dyslexic individual. In a large pedigree with 21 dyslexic individuals genetically linked to a specific haplotype of ROBO1 (not found in any other chromosomes in our samples), the expression of ROBO1 from this haplotype was absent or attenuated in affected individuals. Sequencing of ROBO1 in apes revealed multiple coding differences, and the selection pressure was significantly different between the human, chimpanzee, and gorilla branch as compared to orangutan. We also identified novel exons and splice variants of ROBO1 that may explain the apparent phenotypic differences between human and mouse in heterozygous loss of ROBO1. We conclude that dyslexia may be caused by partial haplo-insufficiency for ROBO1 in rare families. Thus, our data suggest that a slight disturbance in neuronal axon crossing across the midline between brain hemispheres, dendrite guidance, or another function of ROBO1 may manifest as a specific reading disability in humans.
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1 retracted
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Cited by
Johnson, M. B., Kawasawa, Y. I., Mason, C. E., Krsnik, Ž., Coppola, G., Bogdanović, D., Geschwind, D. H., Mane, S. M., State, M. W., & Šestan, N. (2009) · Neuron · doi:10.1016/j.neuron.2009.03.027 · Cited by 603
The WAVE regulatory complex links diverse receptors to the actin cytoskeleton
Chen, B., Brinkmann, K., Chen, Z., Pak, C. W., Liao, Y., Shi, S., Henry, L., Grishin, N. V., Bogdan, S., & Rosen, M. K. (2014) · Cell · doi:10.1016/j.cell.2013.11.048 · Cited by 323
Evolution of vocal learning and spoken language
Jarvis, E. D. (2019) · Science · doi:10.1126/science.aax0287 · Cited by 304
Structural variants: changing the landscape of chromosomes and design of disease studies
Feuk, L., Marshall, C. R., Wintle, R. F., & Scherer, S. W. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl057 · Cited by 286
Rice, M. L., Smith, S. D., & Gayán, J. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9031-x · Cited by 122
Metadata
- Authors
- Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kääriäinen, H., & Kere, J.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2005-10-28
- Volume
- 1
- Issue
- 4
- Pages
- e50
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2164012319
- Cited by
- 329
- References
- 49
- FWCI
- 32.69
- Type
- journal article
- Language
- en
- Open access
- gold
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- Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kääriäinen, H., & Kere, J. (2005). The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia. PLoS Genetics. https://doi.org/10.1371/journal.pgen.0010050
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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