Monoallelic expression of the human FOXP2 speech gene

Abidemi A. Adegbola, Gerald F. Cox, Elizabeth M. Bradshaw, David A. Hafler, Alexander Gimelbrant, Andrew Chess

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


The recent descriptions of widespread random monoallelic expression (RMAE) of genes distributed throughout the autosomal genome indicate that there are more genes subject to RMAE on autosomes than the number of genes on the X chromosome where X-inactivation dictates RMAE of X-linked genes. Several of the autosomal genes that undergo RMAE have independently been implicated in human Mendelian disorders. Thus, parsing the relationship between allele-specific expression of these genes and disease is of interest. Mutations in the human forkhead box P2 gene, FOXP2, cause developmental verbal dyspraxia with profound speech and language deficits. Here, we show that the human FOXP2 gene undergoes RMAE. Studying an individual with developmental verbal dyspraxia, we identify a deletion 3 Mb away from the FOXP2 gene, which impacts FOXP2 gene expression in cis. Together these data suggest the intriguing possibility that RMAE impacts the haploinsufficiency phenotypes observed for FOXP2 mutations.

Original languageEnglish
Pages (from-to)6848-6854
Number of pages7
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number22
StatePublished - 2 Jun 2015


  • Developmental verbal dyspraxia
  • FOXP2
  • Language
  • Random monoallelic expression
  • Speech


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