Reelin protein is an extracellular matrix protease responsible for normal lamination of the brain during embryogenesis, and is involved in cell signaling and synaptic plasticity in adult life. The Reelin gene (RELN) is localized to chromosome 7 in humans and chromosome 5 in mice, and produces a protein product with relative molecular mass of 388 kDa. Reelin protein is localized to a number of brain sites, specifically Cajal–Retzius cells located in layer 1 of neocortex, GABAergic interneurons, and cerebellar granule cells. Activation of the Reelin signaling pathway leads to various, important functions such as enhancement of long-term potentiation, cell proliferation, cell migration, and more importantly dendritic spine morphogenesis.

Spontaneous mutation of the RELN gene in the reeler homozygous mutant mouse leads to the development of ataxia and a reeling gait and reversal of the normal layering of the brain (Goffinet, 1979). The reeler cerebellum is hypoplastic and the Purkinje cell number is diminished potentially explaining the ataxic gait. Historically, comparative studies of the homozygous and heterozygous reeler mutant mice and the similarities in their cognitive, anatomic, and biochemical abnormalities to mental diseases caused an upsurge in generation of new information about Reelin's involvement in various neuropsychiatric disorders.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account
Continue with Google
Continue with ORCiD