The human lexinome: genes of language and reading.
Within the human genome, genetic mapping studies have identified 10 regions of different chromosomes, known as DYX loci, in genetic linkage with dyslexia, and two, known as SLI loci, in genetic linkage with Specific Language Impairment (SLI). Further genetic studies have identified four dyslexia genes within the DYX loci: DYX1C1 on 15q, KIAA0319 and DCDC2 on 6p22, and ROBO1 on 13q. FOXP2 on 7q has been implicated in the development of Speech-Language Disorder. No genes for Specific Language Impairment have yet been identified within the two SLI loci. Functional studies have shown that all four dyslexia genes play roles in brain development, and ongoing molecular studies are attempting to elucidate how these genes exert their effects at a subcellular level. Taken together, these genes and loci likely represent only a fraction of the human lexinome, a term we introduce here to refer to the collection of all the genetic and protein elements involved in the development of human language, expression, and reading.


OBJECTIVE
The reader will become familiar with (i) methods for identifying genes for complex diseases, (ii) the application of these methods in the elucidation of genes underlying disorders of language and reading, and (iii) the cellular pathways through which polymorphisms in these genes may contribute to the development of the disorders.
Gibson
Christopher J
CJ
Department of Pediatrics, Yale Child Health Research Center, Yale University School of Medicine, New Haven, CT 06520-8081, USA.
Gruen
Jeffrey R
JR
D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003598:Cytoskeletal Proteins; D004410:Dyslexia / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007806:Language Disorders / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011971:Receptors, Immunologic / Q000235:genetics; D000097905:Roundabout Proteins
D003598:Cytoskeletal Proteins; D051858:Forkhead Transcription Factors; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011971:Receptors, Immunologic; D000097905:Roundabout Proteins; C510451:DCDC2 protein, human; C478878:DNAAF4 protein, human; C465448:FOXP2 protein, human; C500377:KIAA0319 protein, human