FOXP2: Novel exons, splice variants, and CAG repeat length stability

Heather A. Bruce, Russell L. Margolis

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


FOXP2 is a transcription factor containing a polyglutamine tract, a zinc-finger motif, and a forkhead DNA-binding domain. The FOXP2 gene is located in 7q31. A misense mutation in the forkhead domain (exon 14) and a balanced reciprocal translocation t(5;7)(q22;31.2) with a breakpoint between exons 3b and 4 have recently been associated with a speech and language disorder (SPCH1). The role of FOXP2 in this neurodevelopmental disorder suggests that mutations in FOXP2 could cause other neuropsychiatric disorders. To begin investigation of this possibility, we examined the genomic structure and CAG/CAA repeat region of FOXP2. We detected little polymorphism and no expansions in the FOXP2 CAG/CAA repeat in 142 individuals with progressive movement disorders. We found evidence of alternate splice variants and six previously undetected exons: three 5′ untranslated exons (s1, s2, s3), two additional untranslated exons (2a and 2b) between exons 2 and 3, a translated exon (4a) between exons 4 and 5, and a longer version of exon 10 (10+) that contains an alternate stop codon and produces a truncated protein (FOXP2-S). Our results suggest that FOXP2 spans at least 603 kb of genomic DNA, more than twice the previously defined region, and provide evidence of a promoter region flanking exons s1. This demonstration of additional FOXP2 exons and splice variants should facilitate understanding of FOXP2 function and the search for additional FOXP2 mutations.

Original languageEnglish (US)
Pages (from-to)136-144
Number of pages9
JournalHuman genetics
Issue number2
StatePublished - Aug 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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