Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.

Autism spectrum disorders (ASDs) are a group of commonly occurring, highly-heritable developmental disabilities. Human genes c3orf58 or Deleted In Autism-1 (DIA1) and cXorf36 or Deleted in Autism-1 Related (DIA1R) are implicated in ASD and mental retardation. Both gene products encode signal peptides for targeting to the secretory pathway.

DIA1R is an X-linked gene related to Deleted In Autism-1.

Background: Autism spectrum disorders (ASDS) are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene.

Genetic structure and evolution of the Vps25 family, a yeast ESCRT-II component.

Background: Vps25p is the product of yeast gene VPS25 and is found in an endosomal sorting complex required for transport (ESCRT)-II, along with Vps22p and Vps36p. This complex is essential for sorting of ubiquitinated biosynthetic and endosomal cargoes into endosomes.

Results: We found that VPS25 is a highly conserved and widely expressed eukaryotic gene, with single orthologs in chromalveolate, excavate, amoebozoan, plant, fungal and metazoan species.

Dynamics of endosomal sorting.

The endocytic pathway receives cargo from the cell surface via endocytosis, biosynthetic cargo from the late Golgi complex, and various molecules from the cytoplasm via autophagy. This review focuses on the dynamics of the endocytic pathway in relationship to these processes and covers new information about the sorting events and molecular complexes involved. The following areas are discussed: dynamics at the plasma membrane, sorting within early endosomes and recycling to the cell surface, the role of the cytoskeleton, transport to late endosomes and sorting into multivesicular bodies, anterograde and retrograde Golgi transport, as well as the autophagic pathway.