Worldwide distribution of the<i>DCDC2</i>READ1 regulatory element and its relationship with phoneme variation across languages

DeMille, Mellissa M C; Tang, Kevin; Mehta, Chintan; Geissler, Christopher; Malins, Jeffrey G.; Powers, Natalie R.; Bowen, Beatrice M.; Adams, Andrew; Truong, Dongnhu T.; Frijters, Jan C.; Gruen, Jeffrey R.

doi:10.1073/pnas.1710472115

Cited by 9 publications

(10 citation statements)

References 46 publications

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“…Successful early screening for children at risk of RD could boost genetic studies that are limited mainly by small samples available and heterogeneity in phenotyping across ethnic communities (DeMille et al, 2018;Liu et al, 2019). With small at-risk groups, it is economically feasible to apply new but expensive technologies such as functional and structural magnetic resonance imaging (Skeide et al, 2015(Skeide et al, , 2016Kraft et al, 2016) to improve diagnoses as well as characterization of intermediate features (e.g.…”

Section: Discussionmentioning

confidence: 99%

“…First, Chinese is a morpheme-based logographic system where each character is based on meaning rather than phonology and thus requires not only phonological but also morphological awareness (MA) for reading acquisition (Tan et al, 2005;Pan et al, 2016). Second, differences in the functional neurology (Tan et al, 2001;Zhao et al, 2017) and the genetic associations with reading were observed in Chinese populations (DeMille et al, 2018;Liu et al, 2019). Third, the RD trajectories appear different in Chinese populations .…”

Section: Introductionmentioning

confidence: 99%

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Pinyin Is an Effective Proxy for Early Screening for Mandarin-Speaking Children at Risk of Reading Disorders

Zhang

Hatfield

et al. 2020

Front. Psychol.

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Reading disorders (RD) are common and complex neuropsychological conditions associated with decoding printed words and/or reading comprehension. Early identification of children at risk of RD is critical to allow timely interventions before mental suffering and reading impairment take place. Chinese is a unique medium for studying RD because of extra efforts required in reading acquisition of characters based on meaning rather than phonology. Pinyin, an alphabetic coding system mapping Mandarin sounds to characters, is important to develop oral language skills and a promising candidate for early screening for RD. In this pilot study, we used a cohort of 100 students (50 each in Grades 1 and 2) to derive novel profiles of applying Pinyin to identify early schoolers at risk of RD. Each student had comprehensive reading related measures in two consecutive years, including Pinyin reading and reading comprehension tested in the first and second year, respectively. We showed that Pinyin reading was mainly determined by phonological awareness, was well developed in Grade 1 and the top predictor of reading comprehension (explaining ∼30% of variance, p < 1.0e-05). Further, students who performed poorly in Pinyin reading [e.g. 1 standard deviation (SD) below the average, counting 14% in Grade 1 and 10% in Grade 2], tended to perform poorly in future reading comprehension tests, including all four individuals in Grade 1 (two out of three in Grade 2) who scored 1.5 SDs below the average. Pinyin is therefore an effective proxy for early screening for Mandarin-speaking children at risk of RD.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Pinyin Is an Effective Proxy for Early Screening for Mandarin-Speaking Children at Risk of Reading Disorders

Zhang

Hatfield

et al. 2020

Front. Psychol.

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“…Although the present study did not investigate the relationship between allele distribution and writing systems, there are cases showing a correlation between human genetic variation and certain features of the spoken language. The frequency of an allele group of the READ1 regulatory element in DCDC2 was found to be positively correlated with the number of consonants [ 71 ]. Moreover, the frequency of particular haplotypes of ASPM and Microcephalin in populations was found to be correlated with use of linguistic tone [ 72 ].…”

Section: Discussionmentioning

confidence: 99%

Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?

Nishiyama

Satta

Gojobori

2020

Genes

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Dyslexia, or reading disability, is found to have a genetic basis, and several related genes have been reported. We investigated whether natural selection has acted on single nucleotide polymorphisms (SNPs) that were reported to be associated with risk/non-risk for the reading disability of Chinese characters. We applied recently developed 2D SFS-based statistics to SNP data of East Asian populations to examine whether there is any sign of selective sweep. While neutrality was not rejected for most SNPs, significant signs of selection were detected for two linkage disequilibrium (LD) regions containing the reported SNPs of GNPTAB and DCDC2. Furthermore, we searched for a selection target site among the SNPs in these LD regions, because a causal site is not necessarily a reported SNP but could instead be a tightly linked site. In both LD regions, we found candidate target sites, which may have an effect on expression regulation and have been selected, although which genes these SNPs affect remains unknown. Because most people were not engaged in reading until recently, it is unlikely that there has been selective pressure on reading ability itself. Consistent with this, our results suggest a possibility of genetic hitchhiking, whereby alleles of the reported SNPs may have increased in frequency together with the selected target, which could have functions for other genes and traits apart from reading ability.

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“…Phonological processing is the ability to identify meaningful information in a stream of speech sounds, which requires faithful spectral and temporal encoding in the auditory cortex [4]. There are several genes that modify this encoding, including DCDC2, which we previously showed has population effects on phoneme inventories [5].…”

Section: Introductionmentioning

confidence: 96%

DCDC2READ1 regulatory element: how temporal processing differences may shape language

et al. 2020

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Classic linguistic theory ascribes language change and diversity to population migrations, conquests, and geographical isolation, with the assumption that human populations have equivalent language processing abilities. We hypothesize that spectral and temporal characteristics make some consonant manners vulnerable to differences in temporal precision associated with specific population allele frequencies. To test this hypothesis, we modelled association between RU1-1 alleles of DCDC2 and manner of articulation in 51 populations spanning five continents, and adjusting for geographical proximity, and genetic and linguistic relatedness. RU1-1 alleles, acting through increased expression of DCDC2 , appear to increase auditory processing precision that enhances stop-consonant discrimination, favouring retention in some populations and loss by others. These findings enhance classical linguistic theories by adding a genetic dimension, which until recently, has not been considered to be a significant catalyst for language change.

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Worldwide distribution of theDCDC2READ1 regulatory element and its relationship with phoneme variation across languages

Cited by 9 publications

References 46 publications

Pinyin Is an Effective Proxy for Early Screening for Mandarin-Speaking Children at Risk of Reading Disorders

Pinyin Is an Effective Proxy for Early Screening for Mandarin-Speaking Children at Risk of Reading Disorders

Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?

DCDC2READ1 regulatory element: how temporal processing differences may shape language

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