Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Open accessAbstract
Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral disturbances. Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.2-q23.3 and found three deleterious mutations in AHI1, the first gene to be associated with Joubert syndrome. AHI1 is most highly expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in AHI1 may have been important in the evolution of human-specific motor behaviors.
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AHI1 has undergone evolutionary changes along the human lineage.
“Another crucial neurodevelopmental gene, AHI1, has undergone evolutionary changes along the human lineage (Ferland et al., 2004).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Ferland et al., 2004
Mutations in AHI1 cause Joubert syndrome, a congenital brain malformation of the cerebellar vermis and brainstem.
“Mutations in AHI1 cause Joubert syndrome, a congenital brain malformation of the cerebellar vermis and brainstem.”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Ferland et al., 2004
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- Authors
- Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., Shugart, Y. Y., Ruvolo, M., & Walsh, C. A.
- Affiliations
- Beth Israel Deaconess Medical Center (US)
- National Guard Health Affairs (SA)
- Harvard University (US)
- Brown University (US)
- Johns Hopkins University (US)
- Corresponding author
- Walsh, Christopher A
- Venue
- Nature Genetics
- Published
- 2004-08-22
- Volume
- 36
- Issue
- 9
- Pages
- 1008-1013
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2166217974
- Cited by
- 408
- References
- 31
- Citations by year
- 2026: 6 · 2025: 4 · 2024: 6 · 2023: 22 · 2022: 16 · 2021: 17 · 2020: 6 · 2019: 16 · 2018: 22 · 2017: 16 · 2016: 15 · 2015: 15 · 2014: 14 · 2013: 19 · 2012: 20
- FWCI
- 13.70
- Type
- journal article
- Language
- en
- Update notices
- erratum (2004-10-01)
- Open access
- green
- www.scopus.com
- Licence
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Hacettepe University Institutional Repository (hacettepe.edu.tr) (submittedVersion, other-oa)
- Bristol Research (University of Bristol) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- March of Dimes Foundation
- McKnight Foundation
- National Institute of Mental Health (K01MH071801)
- National Institute of Neurological Disorders and Stroke
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- Joubert syndrome, AHI1, corticospinal tract, superior cerebellar peduncle, congenital brain malformation, positive selection, human evolution, mirror movements
- MeSH terms
- Abnormalities, Multiple, Animals, Brain, Brain Stem, Cerebellum, Developmental Disabilities, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, Phylogeny, Syndrome, Adaptor Proteins, Vesicular Transport, Adaptor Proteins, Signal Transducing, Mice
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