Skip to main content
Disciplines
Automotive Business IT + Informatics Construction + Real Estate Electrical Engineering + Electronics Energy + Sustainability Insurance + Risk Finance + Banking Management + Leadership Marketing + Sales Mechanical Engineering + Materials
Events
DE
EN
Books
Journals
Topic Page
Marketing
Start single access now
Access for companies
EXTENDED SEARCH
Log in
Top
Neuroinformatics
Published in: Neuroinformatics 1/2014

01-01-2014 | Original Article

An Informatics Approach to Integrating Genetic and Neurological Data in Speech and Language Neuroscience

Authors: Jason W. Bohland, Emma M. Myers, Esther Kim

Published in: Neuroinformatics | Issue 1/2014

Log in

Activate our intelligent search to find suitable subject content or patents.

search-config
loading …

Abstract

A number of heritable disorders impair the normal development of speech and language processes and occur in large numbers within the general population. While candidate genes and loci have been identified, the gap between genotype and phenotype is vast, limiting current understanding of the biology of normal and disordered processes. This gap exists not only in our scientific knowledge, but also in our research communities, where genetics researchers and speech, language, and cognitive scientists tend to operate independently. Here we describe a web-based, domain-specific, curated database that represents information about genotype-phenotype relations specific to speech and language disorders, as well as neuroimaging results demonstrating focal brain differences in relevant patients versus controls. Bringing these two distinct data types into a common database (http://​neurospeech.​org/​sldb) is a first step toward bringing molecular level information into cognitive and computational theories of speech and language function. One bridge between these data types is provided by densely sampled profiles of gene expression in the brain, such as those provided by the Allen Brain Atlases. Here we present results from exploratory analyses of human brain gene expression profiles for genes implicated in speech and language disorders, which are annotated in our database. We then discuss how such datasets can be useful in the development of computational models that bridge levels of analysis, necessary to provide a mechanistic understanding of heritable language disorders. We further describe our general approach to information integration, discuss important caveats and considerations, and offer a specific but speculative example based on genes implicated in stuttering and basal ganglia function in speech motor control.
previous article Brede Tools and Federating Online Neuroinformatics Databases
next article Information Processing in the Mirror Neuron System in Primates and Machines

Dont have a licence yet? Then find out more about our products and how to get one now:

Springer Professional "Wirtschaft+Technik"

Online-Abonnement

Mit Springer Professional "Wirtschaft+Technik" erhalten Sie Zugriff auf:

  • über 102.000 Bücher
  • über 537 Zeitschriften

aus folgenden Fachgebieten:

  • Automobil + Motoren
  • Bauwesen + Immobilien
  • Business IT + Informatik
  • Elektrotechnik + Elektronik
  • Energie + Nachhaltigkeit
  • Finance + Banking
  • Management + Führung
  • Marketing + Vertrieb
  • Maschinenbau + Werkstoffe
  • Versicherung + Risiko

Jetzt Wissensvorsprung sichern!

inform now

Springer Professional "Technik"

Online-Abonnement

Mit Springer Professional "Technik" erhalten Sie Zugriff auf:

  • über 67.000 Bücher
  • über 390 Zeitschriften

aus folgenden Fachgebieten:

  • Automobil + Motoren
  • Bauwesen + Immobilien
  • Business IT + Informatik
  • Elektrotechnik + Elektronik
  • Energie + Nachhaltigkeit
  • Maschinenbau + Werkstoffe




 

Jetzt Wissensvorsprung sichern!

inform now

Springer Professional "Wirtschaft"

Online-Abonnement

Mit Springer Professional "Wirtschaft" erhalten Sie Zugriff auf:

  • über 67.000 Bücher
  • über 340 Zeitschriften

aus folgenden Fachgebieten:

  • Bauwesen + Immobilien
  • Business IT + Informatik
  • Finance + Banking
  • Management + Führung
  • Marketing + Vertrieb
  • Versicherung + Risiko




Jetzt Wissensvorsprung sichern!

inform now
Appendix
Available only for authorised users
Footnotes
2
The microarray-based data we analyze provide measures of messenger RNA levels, not protein levels.
 
3
Note, however, that other follow-up studies have found relevant associations with DYX1C1 (e.g., Bates et al. 2010; Brkanac et al. 2007; Lim et al. 2011; Wigg et al. 2004; Zhang et al. 2012).
 
4
These data are the same data upon which the gene expression analyses in this paper are based (although note that cross-brain normalization procedures slightly alter expression values as new data are added); it should be noted, however, that these download links will provide data from all donors and for all probes available on the array for a given gene, while we select one probe per gene for analysis (see below).
 
5
Correspondingly, the URL http://​neurospeech.​org/​sldb/​api/​genePhenotype/​?​format=​json provides the same output formatted as JSON.
 
6
We include results P < 0.05, uncorrected, for studies with small numbers of comparisons (e.g., a targeted association study), but – where possible – annotate those that pass corrections for multiple comparisons as described by the authors. Any results from genome wide association studies will be subjected to multiple comparisons-based thresholds of significance.
 
7
Note that Pubmed will automatically explode search terms with synonymous gene symbols as well as synonyms from Medical Subject Headings (MeSH) and Unified Medical Language System (UMLS) ontologies.
 
9
GNPTAB encodes the alpha and beta subunits of GlcNAc-phosphotransferase, while GNPTG encodes the gamma subunit. NAGPA encodes the uncovering enzyme, a catalyst acting in the same biological pathway.
 
11
It should be noted that brain imaging results that are correlated with genotypic variation need not be equivalent to those that are revealed in group studies of patients vs. controls. This could be due to individual variability at the genetic or neural information processing levels within the group.
 
Literature
Alexander, G. E., & Crutcher, M. D. (1990). Functional architecture of basal ganglia circuits: neural substrates of parallel processing. Trends in Neurosciences, 13, 266–271.PubMedCrossRef
Alexander, G. E., DeLong, M. R., & Strick, P. L. (1986). Parallel organization of functionally segregated circuits linking basal ganglia and cortex. Annual Review of Neuroscience, 9, 357–381.PubMedCrossRef
Alm, P. A. (2004). Stuttering and the basal ganglia circuits: a critical review of possible relations. Journal of Communication Disorders, 37, 325–369.PubMedCrossRef
Al-Murrani, A., Ashton, F., Aftimos, S., et al. (2012). Amino-terminal microdeletion within the CNTNAP2 gene associated with variable expressivity of speech delay. Case Reports in Genetics, 2012, 172408.PubMedCentralPubMedCrossRef
Anthoni, H., Zucchelli, M., Matsson, H., et al. (2007). A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Human Molecular Genetics, 16, 667–677.PubMedCrossRef
Anthoni, H., Sucheston, L. E., Lewis, B. A., et al. (2012). The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behavior Genetics, 42, 509–527.PubMedCentralPubMedCrossRef
Arbib, M. A., & Bonaiuto, J. J. (2013). BODB. The Brain Operation Database. Neuroinformatics, this issue.
Arinami, T. (1997). A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia. Human Molecular Genetics, 6, 577–582.PubMedCrossRef
Bates, E., Wilson, S. M., Saygin, A. P., et al. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6, 448–450.PubMed
Bates, T. C., Lind, P. A., Luciano, M., et al. (2010). Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation. Molecular Psychiatry, 15, 1190–1196.PubMedCrossRef
Bates, T. C., Luciano, M., Medland, S. E., et al. (2011). Genetic variance in a component of the language acquisition device: ROBO1 polymorphisms associated with phonological buffer deficits. Behavior Genetics, 41, 50–57.PubMedCrossRef
Bellini, G., Bravaccio, C., Calamoneri, F., et al. (2005). No evidence for association between dyslexia and DYX1C1 functional variants in a group of children and adolescents from Southern Italy. Journal of Molecular Neuroscience, 27, 311–314.PubMedCrossRef
Bishop, D. V. M., & Snowling, M. J. (2004). Developmental dyslexia and specific language impairment: same or different? Psychological Bulletin, 130, 858–886.PubMedCrossRef
Bohland, J. W., Bokil, H., Allen, C. B., & Mitra, P. P. (2009). The brain atlas concordance problem: quantitative comparison of anatomical parcellations. PloS ONE, 4, e7200.PubMedCentralPubMedCrossRef
Bohland, J. W., Bokil, H., Pathak, S. D., et al. (2010a). Clustering of spatial gene expression patterns in the mouse brain and comparison with classical neuroanatomy. Methods, 50, 105–112.PubMedCrossRef
Bohland, J. W., Bullock, D., & Guenther, F. H. (2010b). Neural representations and mechanisms for the performance of simple speech sequences. Journal of Cognitive Neuroscience, 22, 1504–1529.PubMedCentralPubMedCrossRef
Brkanac, Z., Chapman, N. H., Matsushita, M. M., et al. (2007). Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 144B, 556–560.CrossRef
Civier, O., Bullock, D., Max, L., & Guenther, F. H. (2013). Computational modeling of stuttering caused by impairments in a basal ganglia thalamo-cortical circuit involved in syllable selection and initiation. Brain and Language, 126:263–278.
Collins, D. L., Neelin, P., Peters, T. M., & Evans, A. C. (1994). Automatic 3D intersubject registration of MR volumetric data in standardized Talairach space. Journal of Computer Assisted Tomography, 18, 192–205.PubMedCrossRef
Cope, N., Harold, D., Hill, G., et al. (2005). Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. American Journal of Human Genetics, 76, 581–591.PubMedCentralPubMedCrossRef
Crosson, B. (1985). Subcortical functions in language: a working model. Brain and Language, 25, 257–292.PubMedCrossRef
Crosson, B., McGregor, K., Gopinath, K. S., et al. (2007). Functional MRI of language in aphasia: a review of the literature and the methodological challenges. Neuropsychology Review, 17, 157–177.PubMedCentralPubMedCrossRef
Demonet, J.-F., Thierry, G., & Cardebat, D. (2005). Renewal of the neurophysiology of language: functional neuroimaging. Physiological Reviews, 85, 49–95.PubMedCrossRef
Dennis, M. Y., Paracchini, S., Scerri, T. S., et al. (2009). A common variant associated with dyslexia reduces expression of the KIAA0319 gene. PLoS Genetics, 5, e1000436.PubMedCentralPubMedCrossRef
Dubertret, C. (2004). The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia. Schizophrenia Research, 67, 75–85.PubMedCrossRef
Feuk, L., Kalervo, A., Lipsanen-Nyman, M., et al. (2006). Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. American Journal of Human Genetics, 79, 965–972.PubMedCentralPubMedCrossRef
Filges, I., Shimojima, K., Okamoto, N., et al. (2011). Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of Medical Genetics, 48, 117–122.PubMedCrossRef
Fisher, S. E. (2007). Molecular windows into speech and language disorders. Folia Phoniatrica et Logopaedica: Official Organ of the International Association of Logopedics and Phoniatrics (IALP), 59, 130–140.CrossRef
Fisher, S. E., & Marcus, G. F. (2006). The eloquent ape: genes, brains and the evolution of language. Nature Reviews Genetics, 7, 9–20.PubMedCrossRef
Fisher, S. E., & Scharff, C. (2009). FOXP2 as a molecular window into speech and language. Trends in Genetics, 25, 166–177.PubMedCrossRef
Fisher, S. E., Lai, C. S. L., & Monaco, A. P. (2003). Deciphering the genetic basis of speech and language disorders. Annual Review of Neuroscience, 26, 57–80.PubMedCrossRef
Francks, C., Paracchini, S., Smith, S. D., et al. (2004). A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. American Journal of Human Genetics, 75, 1046–1058.PubMedCentralPubMedCrossRef
Frank, M. J. (2005). Dynamic dopamine modulation in the basal ganglia: a neurocomputational account of cognitive deficits in medicated and nonmedicated Parkinsonism. Journal of Cognitive Neuroscience, 51–72.
Frank, M. J., & Fossella, J. A. (2011). Neurogenetics and pharmacology of learning, motivation, and cognition. Neuropsychopharmacology, 36, 133–152.PubMedCrossRef
Friederici, A. D. (2002). Towards a neural basis of auditory sentence processing. Trends in Cognitive Sciences, 6, 78–84.PubMedCrossRef
Gardner, D., Akil, H., Ascoli, G., et al. (2008). The neuroscience information framework: a data and knowledge environment for neuroscience. Neuroinformatics, 6, 149–160.PubMedCentralPubMedCrossRef
Golfinopoulos, E., Tourville, J. A., & Guenther, F. H. (2010). The integration of large-scale neural network modeling and functional brain imaging in speech motor control. NeuroImage, 52, 862–874.PubMedCentralPubMedCrossRef
Graham, S. A., & Fisher, S. E. (2013). Decoding the genetics of speech and language. Current Opinion in Neurobiology, 23, 43–51.PubMedCrossRef
Guenther, F. H., Ghosh, S. S., & Tourville, J. A. (2006). Neural modeling and imaging of the cortical interactions underlying syllable production. Brain and Language, 96, 280–301.PubMedCentralPubMedCrossRef
Gupta, A., Bug, W., Marenco, L., et al. (2008). Federated access to heterogeneous information resources in the Neuroscience Information Framework (NIF). Neuroinformatics, 6, 205–217.PubMedCentralPubMedCrossRef
Hamdan, F. F., Daoud, H., Rochefort, D., et al. (2010). De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American Journal of Human Genetics, 87, 671–678.PubMedCentralPubMedCrossRef
Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., et al. (2005). The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genetics, 1, e50.PubMedCentralPubMedCrossRef
Harel, S., Greenstein, Y., Kramer, U., et al. (1996). Clinical characteristics of children referred to a child development center for evaluation of speech, language, and communication disorders. Pediatric Neurology, 15, 305–311.PubMedCrossRef
Harold, D., Paracchini, S., Scerri, T., et al. (2006). Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia. Molecular Psychiatry, 11(1085–91), 1061.CrossRef
Hawrylycz, M. J., Lein, E. S., Guillozet-Bongaarts, A. L., et al. (2012). An anatomically comprehensive atlas of the adult human brain transcriptome. Nature, 489, 391–399.PubMedCrossRef
Hickok, G., & Poeppel, D. (2004). Dorsal and ventral streams: a framework for understanding aspects of the functional anatomy of language. Cognition, 92, 67–99.PubMedCrossRef
Hickok, G., & Poeppel, D. (2007). The cortical organization of speech processing. Nature Reviews Neuroscience, 8, 393–402.PubMedCrossRef
Hickok, G., Houde, J., & Rong, F. (2011). Sensorimotor integration in speech processing: computational basis and neural organization. Neuron, 69, 407–422.PubMedCentralPubMedCrossRef
Hirvonen, M., Laakso, A., Någren, K., et al. (2004). C957T polymorphism of the dopamine D2 receptor (DRD2) gene affects striatal DRD2 availability in vivo. Molecular psychiatry, 9, 1060–1061.
Indefrey, P., & Levelt, W. J. M. (2004). The spatial and temporal signatures of word production components. Cognition, 92, 101–144.PubMedCrossRef
Johnson, M. B., Kawasawa, Y. I., Mason, C. E., et al. (2009). Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron, 62, 494–509.
Johnson, W. E., Li, C., & Rabinovic, A. (2007). Adjusting batch effects in microarray expression data using empirical Bayes methods. Biostatistics, 8, 118–127.PubMedCrossRef
Jones, A. R., Overly, C. C., & Sunkin, S. M. (2009). The Allen Brain Atlas: 5 years and beyond. Nature Reviews Neuroscience, 10, 821–828.PubMedCrossRef
Kang, C., & Drayna, D. (2011). Genetics of speech and language disorders. Annual Review of Genomics and Human Genetics, 12, 145–164.PubMedCrossRef
Kang, C., Riazuddin, S., Mundorff, J., et al. (2010). Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. The New England Journal of Medicine, 362, 677–685.PubMedCentralPubMedCrossRef
Kang, C., Domingues, B. S., Sainz, E., et al. (2011a). Evaluation of the association between polymorphisms at the DRD2 locus and stuttering. Journal of Human Genetics, 56, 472–473.PubMedCentralPubMedCrossRef
Kasabov, N., & Benuskova, L. (2004). Computational neurogenetics. Journal of Computational and Theoretical Neuroscience, 1, 47–61.
Kos, M., Van den Brink, D., Snijders, T. M., et al. (2012). CNTNAP2 and language processing in healthy individuals as measured with ERPs. PloS ONE, 7, e46995.PubMedCentralPubMedCrossRef
Kraft, S. J., & Yairi, E. (2012). Genetic bases of stuttering: the state of the art, 2011. Folia Phoniatrica et Logopaedica: Official Organ of the International Association of Logopedics and Phoniatrics (IALP), 64, 34–47.CrossRef
Krug, A., Nieratschker, V., Markov, V., et al. (2010). Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals. NeuroImage, 49, 1831–1836.PubMedCrossRef
Kwasnicka-Crawford, D. A., Carson, A. R., Roberts, W., et al. (2005). Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Genomics, 86, 182–194.PubMedCrossRef
Lai, C. S., Fisher, S. E., Hurst, J. A., et al. (2001). A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413, 519–523.PubMedCrossRef
Laird, A. R., Lancaster, J. L., & Fox, P. T. (2005). BrainMap: the social evolution of a human brain mapping database. Neuroinformatics, 3, 65–78.PubMedCrossRef
Lan, J., Song, M., Pan, C., et al. (2009). Association between dopaminergic genes (SLC6A3 and DRD2) and stuttering among Han Chinese. Journal of Human Genetics, 54, 457–460.PubMedCrossRef
Langfelder, P., & Horvath, S. (2007). Eigengene networks for studying the relationships between co-expression modules. BMC Systems Biology, 1, 54.
Lee, A., Kannan, V., & Hillis, A. E. (2006). The contribution of neuroimaging to the study of language and aphasia. Neuropsychology Review, 16, 171–183.PubMedCrossRef
Lein, E. S., Hawrylycz, M. J., Ao, N., et al. (2007). Genome-wide atlas of gene expression in the adult mouse brain. Nature, 445, 168–176.PubMedCrossRef
Lennon, P. A., Cooper, M. L., Peiffer, D. A., et al. (2007). Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. American Journal of Medical Genetics Part A, 143A, 791–798.PubMedCrossRef
Lieberman, P. (2001). Human language and our reptilian brain. The subcortical bases of speech, syntax, and thought. Perspectives in Biology and Medicine, 44, 32–51.PubMedCrossRef
Lim, C. K. P., Ho, C. S. H., Chou, C. H. N., & Waye, M. M. Y. (2011). Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children. Behavioral and Brain Functions, 7, 16.PubMedCrossRef
Lind, P. A., Luciano, M., Wright, M. J., et al. (2010). Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. European Journal of Human Genetics, 18, 668–673.PubMedCrossRef
Lonsdale, J., Thomas, J., Salvatore, M., et al. (2013). The Genotype-Tissue Expression (GTEx) project. Nature Genetics, 45, 580–585.CrossRef
Lowe, H. J., & Barnett, G. O. (1994). Understanding and using the Medical Subject Headings (MeSH) vocabulary to perform literature searches. JAMA: The Journal of the American Medical Association, 271, 1103–1108.CrossRef
Luciano, M., Lind, P. A., Duffy, D. L., et al. (2007). A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biological Psychiatry, 62, 811–817.PubMedCrossRef
MacDermot, K. D., Bonora, E., Sykes, N., et al. (2005). Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. American Journal of Human Genetics, 76, 1074–1080.PubMedCentralPubMedCrossRef
Marcus, G. F., & Fisher, S. E. F. (2003). In focus: what can genes tell us about speech and language. Trends in Cognitive Sciences, 7, 257–262.PubMedCrossRef
Marino, C., Giorda, R., Luisa Lorusso, M., et al. (2005). A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia. European Journal of Human Genetics, 13, 491–499.PubMedCrossRef
Marino, C., Citterio, A., Giorda, R., et al. (2007). Association of short-term memory with a variant within DYX1C1 in developmental dyslexia. Genes, Brain, and Behavior, 6, 640–646.PubMedCrossRef
Marseglia, G., Scordo, M. R., Pescucci, C., et al. (2012). 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. European Journal of Medical Genetics, 55, 216–221.PubMedCrossRef
Mascheretti, S., Bureau, A., Battaglia, M., et al. (2013). An assessment of gene-by-environment interactions in developmental dyslexia-related phenotypes. Genes, Brain, and Behavior, 12, 47–55.PubMedCrossRef
Meng, H., Hager, K., Held, M., et al. (2005a). TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort. Human Genetics, 118, 87–90.PubMedCrossRef
Meng, H., Smith, S. D., Hager, K., et al. (2005b). DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proceedings of the National Academy of Sciences of the United States of America, 102, 17053–17058.PubMedCentralPubMedCrossRef
Meyer-Lindenberg, A., & Weinberger, D. R. (2006). Intermediate phenotypes and genetic mechanisms of psychiatric disorders. Nature Reviews Neuroscience, 7, 818–827.PubMedCrossRef
Nebel, A., Reese, R., Deuschl, G., et al. (2009). Acquired stuttering after pallidal deep brain stimulation for dystonia. Journal of Neural Transmission, 116, 167–169.PubMedCrossRef
Newbury, D. F., Winchester, L., Addis, L., et al. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. American Journal of Human Genetics, 85, 264–272.PubMedCentralPubMedCrossRef
Newbury, D. F., Paracchini, S., Scerri, T. S., et al. (2011). Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behavior Genetics, 41, 90–104.PubMedCentralPubMedCrossRef
Ng, L., Bernard, A., Lau, C., et al. (2009). An anatomic gene expression atlas of the adult mouse brain. Nature Neuroscience, 12, 356–362.PubMedCrossRef
Nielsen, F. A. (2003). The Brede database: a small database for functional neuroimaging. NeuroImage, Presented at the 9th International Conference on Functional Mapping of the Human Brain, June 19–22, 2003, New York, NY.
Nielsen, F. A. (2013). Brede tools and federating online neuroinformatics databases. Neuroinformatics, this issue.
Noble, E. P. (2003). D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 116B, 103–125.CrossRef
O’Brien, E. K., Zhang, X., Nishimura, C., et al. (2003). Association of specific language impairment (SLI) to the region of 7q31. American Journal of Human Genetics, 72, 1536–1543.PubMedCentralPubMedCrossRef
Paracchini, S., Steer, C. D., Buckingham, L.-L., et al. (2008). Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population. The American Journal of Psychiatry, 165, 1576–1584.PubMedCrossRef
Paracchini, S., Ang, Q. W., Stanley, F. J., et al. (2011). Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population. Genes, Brain, and Behavior, 10, 158–165.PubMedCentralPubMedCrossRef
Pariani, M. J., Spencer, A., Graham, J. M., & Rimoin, D. L. (2009). A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. European Journal of Medical Genetics, 52, 123–127.PubMedCentralPubMedCrossRef
Pennington, B. F., & Bishop, D. V. M. (2009). Relations among speech, language and reading disorders. Annual Review of Psychology, 60, 283–306.PubMedCrossRef
Peter, B., Raskind, W. H., Matsushita, M., et al. (2011). Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample. Journal of Neurodevelopmental Disorders, 3, 39–49.PubMedCentralPubMedCrossRef
Pohjalainen, T., Rinne, J. O., Någren, K., et al. (1998). The A1 allele of the human D2 dopamine receptor gene predicts low D2 receptor availability in healthy volunteers. Molecular psychiatry, 3, 256–260.
Price, C. J. (2012). A review and synthesis of the first 20years of PET and fMRI studies of heard speech, spoken language and reading. NeuroImage, 62, 816–847.PubMedCentralPubMedCrossRef
Rauschecker, J. P., & Scott, S. K. (2009). Maps and streams in the auditory cortex: nonhuman primates illuminate human speech processing. Nature Neuroscience, 12, 718–724.PubMedCentralPubMedCrossRef
Rice, M. L., Smith, S. D., & Gayán, J. (2009). Convergent genetic linkage and associations to language, speech and reading measures in families of probands with specific language impairment. Journal of Neurodevelopmental Disorders, 1, 264–282.PubMedCentralPubMedCrossRef
Roll, P., Rudolf, G., Pereira, S., et al. (2006). SRPX2 mutations in disorders of language cortex and cognition. Human Molecular Genetics, 15, 1195–1207.PubMedCrossRef
Saviour, P., Kumar, S., Kiran, U., et al. (2008). Allelic variants of DYX1C1 are not associated with dyslexia in India. Indian Journal of Human Genetics, 14, 99–102.PubMedCentralPubMedCrossRef
Scerri, T. S., Fisher, S. E., Francks, C., et al. (2004). Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK. Journal of Medical Genetics, 41, 853–857.PubMedCrossRef
Scerri, T. S., Morris, A. P., Buckingham, L.-L., et al. (2011). DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biological Psychiatry, 70, 237–245.PubMedCentralPubMedCrossRef
Scharff, C., & Petri, J. (2011). Evo-devo, deep homology and FoxP2: implications for the evolution of speech and language. Philosophical Transactions of the Royal Society of London Series B, Biological sciences, 366, 2124–2140.PubMedCrossRef
Schumacher, J., Anthoni, H., Dahdouh, F., et al. (2006). Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. American Journal of Human Genetics, 78, 52–62.PubMedCentralPubMedCrossRef
Simmons, T. R., Flax, J. F., Azaro, M. A., et al. (2010). Increasing genotype-phenotype model determinism: application to bivariate reading/language traits and epistatic interactions in language-impaired families. Human Heredity, 70, 232–244.PubMedCrossRef
Stearns, M. Q., Price, C., Spackman, K. A., & Wang, A. Y. (2001) SNOMED clinical terms: overview of the development process and project status. Proc AMIA Symp 662–6.
Sunkin, S. M., Ng, L., Lau, C., et al. (2013). Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system. Nucleic Acids Research, 41, D996–D1008.PubMedCentralPubMedCrossRef
Taipale, M., Kaminen, N., Nopola-Hemmi, J., et al. (2003). A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proceedings of the National Academy of Sciences of the United States of America, 100, 11553–11558.PubMedCentralPubMedCrossRef
Tolosa, A., Sanjuán, J., Dagnall, A. M., et al. (2010). FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies. BMC Medical Genetics, 11, 114.PubMedCentralPubMedCrossRef
Ullman, M. T. (2001). A neurocognitive perspective on language: the declarative/procedural model. Nature Reviews Neuroscience, 2, 717–726.PubMedCrossRef
Van der Merwe, A. (2001). A theoretical framework for the characterization of pathological speech sensorimotor control. In M. McNeil (Ed.), Clinical management of sensorimotor speech disorders (pp. 1–25). New York: Thieme.
Van Essen, D. C. (2005). A Population-Average, Landmark- and Surface-based (PALS) atlas of human cerebral cortex. NeuroImage, 28, 635–662.PubMedCrossRef
Venkatesh, S. K., Siddaiah, A., Padakannaya, P., & Ramachandra, N. B. (2011). An examination of candidate gene SNPs for dyslexia in an Indian sample. Behavior Genetics, 41, 105–109.PubMedCrossRef
Venkatesh, S. K., Siddaiah, A., Padakannaya, P., & Ramachandra, N. B. (2013) Analysis of genetic variants of dyslexia candidate genes KIAA0319 and DCDC2 in Indian population. Journal of Human Genetics.
Vernes, S. C., & Fisher, S. E. (2009). Unravelling neurogenetic networks implicated in developmental language disorders. Biochemical Society Transactions, 37, 1263–1269.PubMedCrossRef
Vernes, S. C., Newbury, D. F., Abrahams, B. S., et al. (2008). A functional genetic link between distinct developmental language disorders. The New England Journal of Medicine, 359, 2337–2345.PubMedCentralPubMedCrossRef
Watkins, K. (2011). Developmental disorders of speech and language: from genes to brain structure and function. Progress in Brain Research, 189, 225–238.PubMedCrossRef
Whitehouse, A. J. O., Bishop, D. V. M., Ang, Q. W., et al. (2011). CNTNAP2 variants affect early language development in the general population. Genes, Brain, and Behavior, 10, 451–456.PubMedCentralPubMedCrossRef
Wigg, K. G., Couto, J. M., Feng, Y., et al. (2004). Support for EKN1 as the susceptibility locus for dyslexia on 15q21. Molecular Psychiatry, 9, 1111–1121.PubMedCrossRef
Yarkoni, T., Poldrack, R. A., Nichols, T. E., et al. (2011). Large-scale automated synthesis of human functional neuroimaging data. Nature Methods, 8, 665–670.PubMedCentralPubMedCrossRef
Zeng, H., Shen, E. H., Hohmann, J. G., et al. (2012). Large-scale cellular-resolution gene profiling in human neocortex reveals species-specific molecular signatures. Cell, 149, 483–496.PubMedCentralPubMedCrossRef
Zhang, B., & Horvath, S. (2005). A general framework for weighted gene co-expression network analysis. Statistical Applications in Genetics and Molecular Biology, 4: Article17.
Zhang, Y., Li, J., Tardif, T., et al. (2012). Association of the DYX1C1 dyslexia susceptibility gene with orthography in the Chinese population. PloS ONE, 7, e42969.PubMedCentralPubMedCrossRef
Zou, L., Chen, W., Shao, S., et al. (2012). Genetic variant in KIAA0319, but not in DYX1C1, is associated with risk of dyslexia: an integrated meta-analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B, 970–976.CrossRef
Metadata
Title
An Informatics Approach to Integrating Genetic and Neurological Data in Speech and Language Neuroscience
Authors
Jason W. Bohland
Emma M. Myers
Esther Kim
Publication date
01-01-2014
Publisher
Springer US
Published in
Neuroinformatics / Issue 1/2014
Print ISSN: 1539-2791
Electronic ISSN: 1559-0089
DOI
https://doi.org/10.1007/s12021-013-9201-6

Other articles of this Issue 1/2014

Neuroinformatics 1/2014 Go to the issue

Original Article

Template Construction Grammar: From Visual Scene Description to Language Comprehension and Agrammatism

Original Article

Prolegomena to a Neurocomputational Architecture for Human Grammatical Encoding and Decoding

Original Article

Towards a Computational Model of Actor-Based Language Comprehension

Editorial

Action, Language and Neuroinformatics: An Introduction

Original Article

Information Processing in the Mirror Neuron System in Primates and Machines

Original Article

Action and Language Mechanisms in the Brain: Data, Models and Neuroinformatics

Premium Partner

    Image Credits