[FOXP2 and the molecular biology of language: new evidence. I. Phenotypic aspects and animal models].
BACKGROUND
FOXP2 is the first gene linked to a hereditary variant of specific language impairment and seems to code for a transcriptional repressor that intervenes in the regulation of development and the functioning of certain thalamic-cortical-striatal circuits.


METHODS
In the last three years significant progress has been made in the analysis of the structural and functional properties of the gene. The most notable advances have been made in the genotypic and phenotypic characterisation of new alterations in its sequencing in human beings; the determination in vivo of the functional properties of the mutated proteins generated from said variants; the cloning and characterisation of new orthologues of the gene; the generation of the first knockout and knockdown organisms for it; and a more precise molecular characterisation of the biological role played by the orthologues corresponding to species that are also capable of learning the articulatory patterns of the vocalisations they use to communicate.


CONCLUSIONS
The latest clinical evidence and that obtained from analysing animal models generated to date appear to suggest the presence of a 'sensory-motor disorder' as the central deficit behind the different phenotypes associated to the different mutations of the gene in the human species, the functionality of the gene FOXP2 during development of the embryo and during the adult phase, its involvement in the development and functioning of the thalamic-cortical-striatal circuits associated to motor planning, sequential behaviour and procedural learning, and significant old age, in developmental terms, of a part of the neuroanatomical substrate that is involved in processing linguistic stimuli in our species.
Benítez-Burraco
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Departamento de Filología Española, Area de Lingüística, Facultad de Filología, Universidad de Oviedo, Oviedo, Asturias, España. abenitez@us.es
D000818:Animals; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007802:Language; D007805:Language Development Disorders / Q000235:genetics*; D023421:Models, Animal; D008967:Molecular Biology; D009154:Mutation; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors; C432918:Foxp2 protein, mouse; D012097:Repressor Proteins