The genetic basis of mammalian neurulation

• Published in: Nature reviews. Genetics Vol. 4; no. 10; pp. 784 - 793
• Main Authors: Copp, Andrew J, Greene, Nicholas D. E, Murdoch, Jennifer N
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.10.2003
• Subjects: Animals; Biological and medical sciences; Birth defects; Cell differentiation, maturation, development, hematopoiesis; Cell physiology; Disease Models, Animal; Emys orbicularis; Fecal incontinence; Folic Acid - genetics; Folic Acid - metabolism; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation, Developmental; Genes; Humans; Mice; Mice, Neurologic Mutants; Molecular and cellular biology; Mutation; Nervous system; Nervous System - embryology; Nervous System - metabolism; Neural Tube Defects - embryology; Neural Tube Defects - genetics; Signal Transduction; sonic hedgehog protein; Spina bifida; Spinal cord; United Kingdom > UK; Embryonic development; Genetics; Vertebrata; Mammalia; Neurulation
• ISSN: 1471-0056; 1471-0064
• DOI: 10.1038/nrg1181

More than 80 mutant mouse genes disrupt neurulation and allow an in-depth analysis of the underlying developmental mechanisms. Although many of the genetic mutants have been studied in only rudimentary detail, several molecular pathways can already be identified as crucial for normal neurulation. These include the planar cell-polarity pathway, which is required for the initiation of neural tube closure, and the sonic hedgehog signalling pathway that regulates neural plate bending. Mutant mice also offer an opportunity to unravel the mechanisms by which folic acid prevents neural tube defects, and to develop new therapies for folate-resistant defects.