Monoallelic expression of the human FOXP2 speech gene.
Publication/Presentation Date
6-2-2015
Abstract
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.
Volume
112
Issue
22
First Page
6848
Last Page
6854
ISSN
1091-6490
Published In/Presented At
Adegbola, A. A., Cox, G. F., Bradshaw, E. M., Hafler, D. A., Gimelbrant, A., & Chess, A. (2015). Monoallelic expression of the human FOXP2 speech gene. Proceedings of the National Academy of Sciences of the United States of America, 112(22), 6848–6854. https://doi.org/10.1073/pnas.1411270111
Disciplines
Medicine and Health Sciences | Psychiatry
PubMedID
25422445
Department(s)
Department of Psychiatry
Document Type
Article