Phenotype and Gene Ontology
This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
Gene Ontology
Under the GO Consortium and the database AmiGO, FOXP2 has five main associations within the gorilla, the orangutan, the chimpanzee, and the human.
FOXP2 is known to be involved in two biological processes: caudate nucleus development (GO:0021757) and putamen development (GO:0021758). The caudate nucleus and putamen, both located in the basal ganglia of the brain, are involved with the control of voluntary movement (1,2). Such terms are consistent with what is known about the phenotypic effect of mutations in FOXP2; individuals with developmental verbal dyspraxia, a disease caused by a mutation in FOXP2, have an impaired ability to execute voluntary movements necessary for speech (4).
FOXP2 has two known molecular function ontologies: DNA binding (GO:0003677) and protein homodimerization (GO:0042803). FOXP2 is also located within the cellular component the nucleus (GO:0005634). As a known transcription factor, FOXP2 is expected to be localized to the nucleus and have DNA binding function. Furthermore, given that FOXP2 contains a leucine zipper, a common dimerization doman, protein homodimerization would also be expected (3).
Phenotypes
Searching the database FlyBase indicates that knocking out of fkh, the FOXP2 homolog, in Drosophila melanogaster restults in embryo lethality. Lethality is only observed when individuals are homozygous for the knockout. However, searching the database WormBase indicates that knocking out fkh-7, a FOXP2 homolog in Caenorhabditis elegans does not result in embryo lethality or abnormal postembryonic development.
RNAi knockdown of FOXP2 in Taeniopygia guttata (zebra finch), a song bird in which FOXP2 has been shown to be linked to song learning, results in incomplete and incaccurate vocal imitation of tutor songs. This phenotype was present early stages of life during with song learning takes place, and persisted throughout adulthood (5).
These results indicate that FOXP2 is not essential for embryonic development, but is essential for normal embryonic development and functioning. Furthermore, results from knocking out FOXP2 in the zebra finch gives further support to the role of FOXP2 in the development of verbal dyspraxia and the development of language in humans.
References
1. AmiGO (2009) AmiGO: caudate nucleus development Details Retrieved March 28, 2009 from http://amigo.geneontology.org/cgi-bin/amigo/term-details.cgi?term=GO:0021757&session_id=6794amigo1238292543&
2. AmiGO (2009) AmiGO: putamen development Details Retrieved March 28, 2009 from http://amigo.geneontology.org/cgi-bin/amigo/term-details.cgi?term=GO:0021758&session_id=6794amigo1238292543&3. Stroud JC, Wu Y, Bates DL, Han A, Nowick K,
3. Paabo S, Tong H, Chen L (2006) Structure of the forkhead domain of FOXP2 bound to DNA. Structure 14:159-166. PMID: 16407075
4. Vargha-Khadem F, Gadian DG, Copp A, Mishkin M (2005) FOXP2 and the neuroanatomy of speech and language. Nat Rev Neurosci 6:131–138. PMID: 15685218
5. Haesler S, Rochefort C, Georgi B, Licznerski P, Osten P, Scharff C (2007) Incomplete and innacurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus area X. PLoS Biology 5:2885-2897. PMID: 18052609
Databases
GO Consortium
AmiGO
FlyBase
WormBase
Andrew Tritt
tritt at wisc dot edu
Last Updated: 05/13/2009
Genetics 677
