The human lexinome: Genes of language and reading

Abstract

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.Learning outcomes: 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. #

A High Density of Human Communication-Associated Genes in Chromosome 7q31-q36: Differential Expression in Human and Non-Human Primate Cortices

“…An intense literature [Cody et al, 2007;Smith, 2007;Gibson and Gruen, 2008;Fisher and Scharff, 2009;Caglayan, 2010;Newbury and Monaco, 2010;Scherer and Dawson, 2011] and database (http://www.mindspec.org/autdb.html) research revealed 244 genes associated with human-specific communication ( table 1 ). These genes have been associated with autism spectrum, reading, speech, and language disorders.…”

Progress towards a cellular neurobiology of reading disability

“…The current status of RD genetic association efforts, reviewed more thoroughly elsewhere (Gibson CJ and JR Gruen, 2008; Paracchini S et al, 2007), underscores the complexity of RD genetics. The composite evidence clearly shows a strong genetic risk; however, even the most consistently associated genetic loci and genes have not been significantly associated with RD in all sample populations.…”

Brain Mapping and Interpretation of Reading Processing in Children Using EEG and Multivariate Statistical Analysis

“…Difficulties in learning to read may have a biological cause, the neural connections may not organize themselves accordingly during the neurological development since the fetal stage till the first childhood due to both genetic [52,1,35,42,17,51,38,43,15,19] and environmental factors, such as malnutrition [39,21,41], preterm birth [31], mother depression [21], stress suffered by the mother during pregnancy [24,41], use of drugs [41,51,8], among others.…”