Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders

Yara Dadalti Fragoso, Patrick N. Stoney, Kirsty D. Shearer, Angelo Sementilli, Sonia E. Nanescu, Pietro Sementilli, Peter McCaffery

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Retinoic acid induced 1 (RAI1) is a protein of uncertain mechanism of action which nevertheless has been the focus of attention because it is a major contributing factor in several human developmental disorders including Smith–Magenis and Potocki–Lupski syndromes. Further, RAI1 may be linked to adult neural disorders with developmental origins such as schizophrenia and autism. The protein has been extensively examined in the rodent but very little is known about its distribution in the human central nervous system. This study demonstrated the presence of RAI1 transcript in multiple regions of the human brain. The cellular expression of RAI1 protein in the human brain was found to be similar to that described in the mouse, with high levels in neurons, but not glia, of the dentate gyrus and cornus ammonis of the hippocampus. In the cerebellum, a second region of high expression, RAI1 was present in Purkinje cells, but not granule cells. RAI1 was also found in neurons of the occipital cortex. The expression of this retinoic acid-induced protein matched well in the hippocampus with expression of the retinoic acid receptors. The subcellular distribution of human neuronal RAI1 indicated its presence in both cytoplasm and nucleus. Overall, human RAI1 protein was found to be a highly expressed neuronal protein whose distribution matches well with its role in cognitive and motor skills.
Original languageEnglish
Pages (from-to)1195-1203
Number of pages9
JournalBrain Structure and Function
Issue number2
Early online date12 Feb 2014
Publication statusPublished - Mar 2015

Bibliographical note

Funding was provided by the Wellcome Trust and Tenovus Scotland. Prof Fragoso is the recipient of a Post Doctoral Science without Borders grant from the Brazilian National Council for Scientific and Technological Development (CNPq, 37450/2012-
7). We also thank Aberdeen Proteomics for assistance with the western blots as well as the Microscopy and Histology Core Facility at the University of Aberdeen for confocal microscopy.


  • transcription
  • cytoplasmic
  • Smith-Magenis
  • Potocki-Lupski
  • retinoic acid
  • RAR
  • cerebellum
  • hippocampus
  • cerebral cortex


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