Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2

BACKGROUND: We report on a young female, who presents with a severe speech and language disorder and a balanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7 pericentromeric inversion, followed by a chromosome 7 and 11 translocation. RESULTS: Using molecular cytogenetics, we mapped the four breakpoints to 7p21.1-15.3 (chromosome position: 20,954,043-21,001,537, hg19), 7q31 (chromosome position: 114,528,369-114,556,605, hg19), 7q21.3 (chromosome position: 93,884,065-93,933,453, hg19) and 11p12 (chromosome position: 38,601,145-38,621,572, hg19). These regions contain only non-coding transcripts (ENSG00000232790 on 7p21.1 and TCONS_00013886, TCONS_00013887, TCONS_00014353, TCONS_00013888 on 7q21) indicating that no coding sequences are directly disrupted. The breakpoint on 7q31 mapped 200 kb downstream of FOXP2, a well-known language gene. No splice site or non-synonymous coding variants were found in the FOXP2 coding sequence. We were unable to detect any changes in the expression level of FOXP2 in fibroblast cells derived from the proband, although this may be the result of the low expression level of FOXP2 in these cells. CONCLUSIONS: We conclude that the phenotype observed in this patient either arises from a subtle change in FOXP2 regulation due to the disruption of a downstream element controlling its expression, or from the direct disruption of non-coding RNAs

Playing with language, creating complexity:has play contributed to the evolution of complex language?

We argue that enhanced play may have contributed to the emergence of complex language systems in modern humans (Homo sapiens). To support this idea, we first discuss evidence for an expansion of playing behavior connected to the extended childhood of modern human children, and the potential of this period for the transmission of complex cultural traits, including language. We then link two of the most important functions of play-exploration and innovation-to the potential for cumulative cultural evolution in general and for the emergence of complex language in particular. If correct, the shorter childhood of Neanderthals-involving restrictions on time to experiment and innovate-may have restricted their language (and other symbolic) system/s. Consequently, fully investigating the role that play may have had in the transmission of language and the development of symbolic cultures in both modern humans and Neanderthals provides a new avenue of research for Paleolithic archaeology and related disciplines.</p

Pere Alberch's developmental morphospaces and the evolution of cognition

In this article we argue for an extension of Pere Alberch's notion of developmental morphospace into the realm of cognition and introduce the notion of cognitive phenotype as a new tool for the evolutionary and developmental study of cognitive abilities

Communication : where evolutionary linguistics went wrong

In this article we offer a detailed assessment of current approaches to the origins of language, with a special focus on their historical and theoretical underpinnings. It is a widely accepted view within evolutionary linguistics that an account of the emergence of human language necessarily involves paying special attention to its communicative function and its relation to other animal communication systems. Ever since Darwin, some variant of this view has constituted the mainstream version in evolutionary linguistics; however, it is our contention in this article that this approach is seriously flawed, and that "animal communication" does not constitute a natural kind on which a sound theoretical model can be built. As a consequence, we argue that this communicative perspective is better abandoned in favor of a structural/formal approach based on the notion of homology, and that some interesting and unexpected similarities may be found by applying this venerable comparative method founded in the 19th century by Richard Owen

Pigmentation plasticity enhances crypsis in larval newts: Associated metabolic cost and background choice behaviour

In heterogeneous environments, the capacity for colour change can be a valuable adaptation enhancing crypsis against predators. Alternatively, organisms might achieve concealment by evolving preferences for backgrounds that match their visual traits, thus avoiding the costs of plasticity. Here we examined the degree of plasticity in pigmentation of newt larvae (Lissotriton boscai) in relation to predation risk. Furthermore, we tested for associated metabolic costs and pigmentation-dependent background choice behaviour. Newt larvae expressed substantial changes in pigmentation so that light, high-reflecting environment induced depigmentation whereas dark, low-reflecting environment induced pigmentation in just three days of exposure. Induced pigmentation was completely reversible upon switching microhabitats. Predator cues, however, did not enhance cryptic phenotypes, suggesting that environmental albedo induces changes in pigmentation improving concealment regardless of the perceived predation risk. Metabolic rate was higher in heavily pigmented individuals from dark environments, indicating a high energetic requirement of pigmentation that could impose a constraint to larval camouflage in dim habitats. Finally, we found partial evidence for larvae selecting backgrounds matching their induced phenotypes. However, in the presence of predator cues, larvae increased the time spent in light environments, which may reflect a escape response towards shallow waters rather than an attempt at increasing crypsisFinancial support was provided by the Spanish Ministry of Science and Innovation (MICINN), Grant CGL2012-40044 to IGM, and by the Universidad Autónoma de Madrid, Short Stay Grant to NPC. Additional financial support was provided by the MICINN, Grant CGL2015-68670-R to NP

Timing the integration of utterance duration and task shift in a case of genetic anomaly implicating 7q31 with language disorders

The most basic biological endowment needed for communication is that which allows the brain to copy sounds. This requires having an auditory pathway that responds to changes in the environment and a motor system that times muscular changes within a limited time scale. In this experiment we mea- sure the significant differences observed between the performance of a subject (A), affected by a genetic anomaly (a t[7;11] [p13;p13] along with a pericen- tromeric inversion with rupture points in 7p13 and 7q31), and a control subject (C) matched for sex, age, schooling, and linguistic and socioeco- nomic background. For this experiment the subjects repeat 253 different nonsensical utterances. We measure the deviation of each subject from each given utterance with respect to two clocks: the total utterance time and the number of task shifts. We look at 9 possible integrative types these two clocks produce and determine how A and C differ in each of them. Since 7q31 is the locus for FOXP2 (which could be consequently mutated in A), this experiment could be of interest for understanding how genes affect path- ways involved in regulating the timing of muscular activity as a response to auditory stimulation