Analysis of two language-related genes in autism

Toma, Claudio; Hervás, Amaia; Torrico, Bàrbara; Balmaña, Noemí; Salgado, Marta Morgade; Maristany, Marta; Vilella, Elisabet; Planelles, Ma Inmaculada; Cuscò, Ivon; Campo, Miguel del; Pérez-Jurado, Luís A.; Caballero-Andaluz, Rafaela; Diego-Otero, Yolanda de; Pérez-Costillas, Lucía; Ramos-Quiroga, Josep Antoni; Ribasés, Marta; Bayés, Mònica; Cormand, Bru

doi:10.1097/ypg.0b013e32835d6fc6

Cited by 52 publications

(29 citation statements)

References 29 publications

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“…Variations affecting this gene have been detected in individuals who lack the ability of acquiring communication skills. However, evidence supporting the involvement of FOXP2 in ASD remains scattered (Toma et al., 2013). The WNT2 gene belongs to the large WNT gene family, which is highly expressed during development of the central nervous system and, therefore, it is not surprising that it could represent an ASD candidate gene (Kalkman, 2012; Li et al., 2004).…”

Section: Reviewmentioning

confidence: 99%

Autism throughout genetics: Perusal of the implication of ion channels

et al. 2018

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BackgroundAutism spectrum disorder (ASD) comprises a group of neurodevelopmental psychiatric disorders characterized by deficits in social interactions, interpersonal communication, repetitive and stereotyped behaviors and may be associated with intellectual disabilities. The description of ASD as a synaptopathology highlights the importance of the synapse and the implication of ion channels in the etiology of these disorders.MethodsA narrative and critical review of the relevant papers from 1982 to 2017 known by the authors was conducted.ResultsGenome‐wide linkages, association studies, and genetic analyses of patients with ASD have led to the identification of several candidate genes and mutations linked to ASD. Many of the candidate genes encode for proteins involved in neuronal development and regulation of synaptic function including ion channels and actors implicated in synapse formation. The involvement of ion channels in ASD is of great interest as they represent attractive therapeutic targets. In agreement with this view, recent findings have shown that drugs modulating ion channel function are effective for the treatment of certain types of patients with ASD.ConclusionThis review describes the genetic aspects of ASD with a focus on genes encoding ion channels and highlights the therapeutic implications of ion channels in the treatment of ASD.

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Section: Reviewmentioning

confidence: 99%

Autism throughout genetics: Perusal of the implication of ion channels

et al. 2018

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“…Li, Weidenfeld, & Morrisey, 2004). Despite these strong links to language, FOXP2 coding variants have not been directly associated with autism spectrum disorder (ASD) or specific language impairment (SLI; Marui et al, 2005; Newbury et al, 2002; Scott-Van Zeeland, Abrahams, et al, 2010; Toma et al, 2013), even though these disorders are also characterized by language deficits. In contrast, within a sample of dyslexic children and their unaffected relatives, a single nucleotide polymorphism (T vs. C) in an intron of FOXP2 , identified as rs7782412, was correlated with nonword repetition (NWR) score (Peter et al, 2011), with the major allele (T, frequency of 0.558) being associated with impairment on this task.…”

Section: Foxp2mentioning

confidence: 99%

Recent Advances in the Genetics of Vocal Learning

Condro¹,

White²

2014

CCBR

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Language is a complex communicative behavior unique to humans, and its genetic basis is poorly understood. Genes associated with human speech and language disorders provide some insights, originating with the FOXP2 transcription factor, a mutation in which is the source of an inherited form of developmental verbal dyspraxia. Subsequently, targets of FOXP2 regulation have been associated with speech and language disorders, along with other genes. Here, we review these recent findings that implicate genetic factors in human speech. Due to the exclusivity of language to humans, no single animal model is sufficient to study the complete behavioral effects of these genes. Fortunately, some animals possess subcomponents of language. One such subcomponent is vocal learning, which though rare in the animal kingdom, is shared with songbirds. We therefore discuss how songbird studies have contributed to the current understanding of genetic factors that impact human speech, and support the continued use of this animal model for such studies in the future.

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“…The gene reveals signs of recent selection in the hominin lineage [2], [3] and natural variation in the FOXP2 gene has been found to alter grey matter concentrations in patients with schizophrenia [4]. In fact, different polymorphisms have been found to dissociate between autism spectrum disorders on one side and schizophrenia on the other [5]–[9](but see also [10]). The FoxP2 gene sequence is highly conserved in vertebrates, its expression is largely concordant and numerous experiments indicate that FoxP2 is important for modulating the neural circuits involved in vocal learning [11]–[14].…”

Section: Introductionmentioning

confidence: 99%

Drosophila FoxP Mutants Are Deficient in Operant Self-Learning

et al. 2014

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Intact function of the Forkhead Box P2 (FOXP2) gene is necessary for normal development of speech and language. This important role has recently been extended, first to other forms of vocal learning in animals and then also to other forms of motor learning. The homology in structure and in function among the FoxP gene members raises the possibility that the ancestral FoxP gene may have evolved as a crucial component of the neural circuitry mediating motor learning. Here we report that genetic manipulations of the single Drosophila orthologue, dFoxP, disrupt operant self-learning, a form of motor learning sharing several conceptually analogous features with language acquisition. Structural alterations of the dFoxP locus uncovered the role of dFoxP in operant self-learning and habit formation, as well as the dispensability of dFoxP for operant world-learning, in which no motor learning occurs. These manipulations also led to subtle alterations in the brain anatomy, including a reduced volume of the optic glomeruli. RNAi-mediated interference with dFoxP expression levels copied the behavioral phenotype of the mutant flies, even in the absence of mRNA degradation. Our results provide evidence that motor learning and language acquisition share a common ancestral trait still present in extant invertebrates, manifest in operant self-learning. This ‘deep’ homology probably traces back to before the split between vertebrate and invertebrate animals.

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Analysis of two language-related genes in autism

Cited by 52 publications

References 29 publications

Autism throughout genetics: Perusal of the implication of ion channels

Autism throughout genetics: Perusal of the implication of ion channels

Recent Advances in the Genetics of Vocal Learning

Drosophila FoxP Mutants Are Deficient in Operant Self-Learning

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