Relevance to Autism

Large sample resequencing of 408 selected brain-expressed genes in a cohort of 142 ASD cases and 142 schizophrenia cases in Myers et al., 2011 found that MAP1A had a significant excess of rare missense variants in both disease cohorts. Analysis of exome sequencing data from approximately 8,000 children with ASD and/or ADHD and 5,000 controls from the iPSYCH research initiative in Satterstrom et al., demonstrated that MAP1A had an excess of rare protein-truncating variants in cases compared to controls (11 in cases vs. 0 in controls; p-value 9.21E-03) and subsequently reached exome-wide significance following the inclusion of gnomAD data and Bonferroni correction (combined p-value 4.11E-07, odds ratio 16.4). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified MAP1A as a candidate gene with a false discovery rate (FDR) 0.01.

Molecular Function

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development.

External Links

References