Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes

Pettigrew, Kerry A.; Frinton, Emily; Nudel, Ron; Chan, May T. M.; Thompson, Paul A.; Hayiou‐Thomas, Marianna E.; Talcott, Joel B.; Stein, John; Monaco, Anthony P.; Hulme, Charles; Snowling, Margaret J.; Newbury, Dianne F.; Paracchini, Silvia

doi:10.1186/s11689-016-9157-6

Cited by 32 publications

(23 citation statements)

References 50 publications

(62 reference statements)

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“…The York cohort is a longitudinal cohort designed to study language and literacy development 37 and has been analyzed previously for genetic studies. 38 DNA was available for 103 families and a total of 318 individuals. Of these, phenotype data were available for N =103 probands and N =41 siblings.…”

Section: Methodsmentioning

confidence: 99%

The DCDC2 deletion is not a risk factor for dyslexia

et al. 2017

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Dyslexia is a specific impairment in learning to read and has strong heritability. An intronic deletion within the DCDC2 gene, with ~8% frequency in European populations, is increasingly used as a marker for dyslexia in neuroimaging and behavioral studies. At a mechanistic level, this deletion has been proposed to influence sensory processing capacity, and in particular sensitivity to visual coherent motion. Our re-assessment of the literature, however, did not reveal strong support for a role of this specific deletion in dyslexia. We also analyzed data from five distinct cohorts, enriched for individuals with dyslexia, and did not identify any signal indicative of associations for the DCDC2 deletion with reading-related measures, including in a combined sample analysis (N=526). We believe we conducted the first replication analysis for a proposed deletion effect on visual motion perception and found no association (N=445 siblings). We also report that the DCDC2 deletion has a frequency of 37.6% in a cohort representative of the general population recruited in Hong Kong (N=220). This figure, together with a lack of association between the deletion and reading abilities in this cohort, indicates the low likelihood of a direct deletion effect on reading skills. Therefore, on the basis of multiple strands of evidence, we conclude that the DCDC2 deletion is not a strong risk factor for dyslexia. Our analyses and literature re-evaluation are important for interpreting current developments within multidisciplinary studies of dyslexia and, more generally, contribute to current discussions about the importance of reproducibility in science.

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Section: Methodsmentioning

confidence: 99%

The DCDC2 deletion is not a risk factor for dyslexia

et al. 2017

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“…While none of the genes that have been robustly implicated in language‐related disorders, e.g., FOXP2 and CNTNAP2 , are known to be imprinted (see the Supporting Information for a full list), there is evidence that others may be. One reason is the parent‐of‐origin effects identified in a number of genomic regions associated with language phenotypes, including significant paternal effects at 14q12, suggestive maternal effects at 5p13, and possible parent‐of‐origin effects in a chromosomal deletion in the 15q13.1–13.3 region, which might underlie different clinical manifestations for the same chromosomal rearrangement . While such parent‐of‐origin effects can arise from processes other than imprinting, it has been suggested that either imprinting or interactions with imprinted loci are the most likely explanations in these cases …”

Section: Inferring Selfishness Versus Altruism From Imprinted Genesmentioning

confidence: 99%

“…More generally, much still remains unknown about the genetic basis of linguistic behavior, and while it is known that certain aspects of the language phenotype are highly heritable, the currently known variants can only explain a small portion of this . Furthermore, the genome‐wide association studies often used to identify new variants rarely incorporate parent‐of‐origin effects that may be required to identify the contributions of imprinted genes, although there are exceptions . With improved statistical methods to discern different parental effects in association studies, this may prove a fruitful avenue for investigation.…”

Section: A New Approach To Understanding the Social Evolutionary Drivmentioning

confidence: 99%

Genomic Imprinting As a Window into Human Language Evolution

2019

Self Cite

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Humans spend large portions of their time and energy talking to one another, yet it remains unclear whether this activity is primarily selfish or altruistic. Here, it is shown how parent‐of‐origin specific gene expression—or “genomic imprinting”—may provide an answer to this question. First, it is shown why, regarding language, only altruistic or selfish scenarios are expected. Second, it is pointed out that an individual's maternal‐origin and paternal‐origin genes may have different evolutionary interests regarding investment into language, and that this intragenomic conflict may drive genomic imprinting which—as the direction of imprint depends upon whether investment into language is relatively selfish or altruistic—may be used to discriminate between these two possibilities. Third, predictions concerning the impact of various mutations and epimutations at imprinted loci on language pathologies are derived. In doing so, a framework is developed that highlights avenues for using intragenomic conflicts to investigate the evolutionary drivers of language.

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“…As before, we selected among these genes those with a known role in brain oscillations. Finally, for SLI, we have mostly relied on the literature review provided by Chen et al (2017) and on the literature survey and results provided by Pettigrew et al (2016) , which contain candidates resulting from linkage analyses, GWA studies, and NGS analyses. As with DD, we surveyed the literature via PubMed looking for other candidates for this condition.…”

Section: Searching For Language Oscillogenome Candidatesmentioning

confidence: 99%

Toward the Language Oscillogenome

Murphy

Benítez‐Burraco

2018

Front. Psychol.

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Language has been argued to arise, both ontogenetically and phylogenetically, from specific patterns of brain wiring. We argue that it can further be shown that core features of language processing emerge from particular phasal and cross-frequency coupling properties of neural oscillations; what has been referred to as the language ‘oscillome.’ It is expected that basic aspects of the language oscillome result from genetic guidance, what we will here call the language ‘oscillogenome,’ for which we will put forward a list of candidate genes. We have considered genes for altered brain rhythmicity in conditions involving language deficits: autism spectrum disorders, schizophrenia, specific language impairment and dyslexia. These selected genes map on to aspects of brain function, particularly on to neurotransmitter function. We stress that caution should be adopted in the construction of any oscillogenome, given the range of potential roles particular localized frequency bands have in cognition. Our aim is to propose a set of genome-to-language linking hypotheses that, given testing, would grant explanatory power to brain rhythms with respect to language processing and evolution.

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Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes

Cited by 32 publications

References 50 publications

The DCDC2 deletion is not a risk factor for dyslexia

The DCDC2 deletion is not a risk factor for dyslexia

Genomic Imprinting As a Window into Human Language Evolution

Toward the Language Oscillogenome

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