Search for an Autism Gene on the Y Chromosome (funded through NAAR)

The male to female ratio in autism is 4:1 in the global autistic population. Despite this gender difference, male predisposition to autistic disorder has not been explained. The reduced rate at which people with autism have children makes vertical transmission uncommon and genetic analysis confusing. Furthermore, genome scans based on linkage analysis cannot study the non-recombining region of the Y chromosome and the lack of Y linkage in these studies does not rule out the possibility of susceptibility loci for autism on this chromosome. Dr. Beaudet proposed that a dysfunction of genes involved in synapse function and located on the Y chromosome could cause autism. To analyze for a Y chromosome effect in autism, Dr. Beaudet screened Y chromosome haplotypes in subjects with autism and controls by using Y-polymorphic markers looking for specific haplogroups that could be associated with autism. Dr. Beaudet also tested the hypothesis that the Y-linked SYBLI and NLGN4Y genes, whose products are molecules involved in the vesicular trafficking and synaptogenesis, are candidate genes for involvement in autism.