A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome
| Autor: | Pierre Billuart, Axel Kahn, Elisabeth Dupuis, Yoheved Berwald-Netter, Marie Claude Vinet, Jean Marc Pinard, Annette Koulakoff, Jamel Chelly, Cherif Beldjord, Alain Carrié, Vincent des Portes, Antoinette Gelot, Martin Catala, Jacques Motte |
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| Rok vydání: | 1998 |
| Předmět: |
Central Nervous System
Doublecortin Domain Proteins Male DNA Complementary X Chromosome Adolescent Transcription Genetic Molecular Sequence Data Gene Expression Lissencephaly Type I lissencephaly General Biochemistry Genetics and Molecular Biology PAFAH1B1 Cell Movement medicine Humans Amino Acid Sequence Chromosomes Artificial Yeast Sex Chromosome Aberrations X chromosome Sequence Tagged Sites Cerebral Cortex Family Health Neurons Epilepsy Neocortex Base Sequence Sequence Homology Amino Acid biology Biochemistry Genetics and Molecular Biology(all) Neuropeptides Chromosome Mapping Syndrome Anatomy medicine.disease Pedigree Doublecortin Neuronal migration disorder Heterotopia (medicine) medicine.anatomical_structure Genes nervous system Child Preschool Mutation biology.protein Female Peptides Microtubule-Associated Proteins Neuroscience |
| Zdroj: | Cell. 92:51-61 |
| ISSN: | 0092-8674 |
| DOI: | 10.1016/s0092-8674(00)80898-3 |
| Popis: | X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion. |
| Databáze: | OpenAIRE |
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