PRRG4 function reveals that Robo trafficking is evolutionarily conserved

BERNI, JIMENA

PLOS GENETICS

PUBLIC LIBRARY SCIENCE

Lugar: San Francisco; Año: 2017 vol. 13

1553-7390

Achieving a correct set of neuronal connections during development is key for a healthy functioningnervous system. Autism, which is characterised by impairments in social interaction,language, and range of interests, has been hypothesised to originate from defective synapticfunction and abnormal brain connectivity [1,2]. Moreover, genetic alterations such as the deficiencyin proline-rich carboxyglutamic acid protein 4 (PRRG4) have been associated withautistic features present in WAGR syndrome (Wilm´s tumour, aniridia, genitourinary anomaliesand ªmental retardationº). Therefore, understanding the genetic mechanisms underlyingthe assembly of brain circuits is likely to be essential for the design of new diagnostic tools andtherapeutic strategies for Autistic Spectrum Disorders (ASD). In this issue of PLOS Genetics,Justice et al. link genetic alterations and neural circuitry development, revealing a novel rolefor the PRRG4 as a regulator of Roundabout (Robo) receptor subcellular localization in thenervous system [3].