The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition

Synesthesia is a perceptual condition in which sensory stimulation triggers anomalous sensory experiences. In colored sequence synesthesia (CSS), color experiences are triggered by sequences such as letters or numbers. We performed a family based linkage analysis to identify genetic loci responsible for the increased neural crosstalk underlying CSS. Our results implicate a 23 MB region at 16q12.2-23.1, providing the first step in understanding the molecular basis of CSS.

[1]  W. Byerley,et al.  Sensory gating deficits in parents of schizophrenics. , 1995, American journal of medical genetics.

[2]  D. Eagleman,et al.  Wednesday Is Indigo Blue: Discovering the Brain of Synesthesia , 2009 .

[3]  S. Baron-Cohen,et al.  Coloured Speech Perception: Is Synaesthesia what Happens when Modularity Breaks Down? , 1993, Perception.

[4]  Lynn C. Robertson,et al.  Synesthesia : perspectives from cognitive neuroscience , 2005 .

[5]  J. Gabrieli,et al.  Hyperactivity and hyperconnectivity of the default network in schizophrenia and in first-degree relatives of persons with schizophrenia , 2009, Proceedings of the National Academy of Sciences.

[6]  S. Kapur,et al.  Evidence for impaired cortical inhibition in schizophrenia using transcranial magnetic stimulation. , 2002, Archives of general psychiatry.

[7]  Daniel L. Rubin,et al.  Network Analysis of Intrinsic Functional Brain Connectivity in Alzheimer's Disease , 2008, PLoS Comput. Biol..

[8]  E. Bullmore,et al.  Activation of auditory cortex during silent lipreading. , 1997, Science.

[9]  R Freedman,et al.  Inhibitory gating of an evoked response to repeated auditory stimuli in schizophrenic and normal subjects. Human recordings, computer simulation, and an animal model. , 1996, Archives of general psychiatry.

[10]  G. Abecasis,et al.  Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.

[11]  Edward M. Hubbard,et al.  Neurocognitive Mechanisms of Synesthesia , 2005, Neuron.

[12]  Weihua Chang,et al.  Whole-genome genotyping with the single-base extension assay , 2005, Nature Methods.

[13]  Geoffrey M. Boynton,et al.  Individual Differences among Grapheme-Color Synesthetes: Brain-Behavior Correlations , 2005, Neuron.

[14]  C. Lenay,et al.  SENSORY SUBSTITUTION: LIMITS AND PERSPECTIVES , 2003 .

[15]  M. Just,et al.  Functional and anatomical cortical underconnectivity in autism: evidence from an FMRI study of an executive function task and corpus callosum morphometry. , 2007, Cerebral cortex.

[16]  Kathleen S Rockland,et al.  Multisensory convergence in calcarine visual areas in macaque monkey. , 2003, International journal of psychophysiology : official journal of the International Organization of Psychophysiology.

[17]  R. Cytowič.  Synesthesia: A Union of the Senses , 1989 .

[18]  Daniel F. Gudbjartsson,et al.  Allegro, a new computer program for multipoint linkage analysis , 2000, Nature genetics.

[19]  Julian E. Asher,et al.  Diagnosing and Phenotyping Visual Synaesthesia: a Preliminary Evaluation of the Revised Test of Genuineness (TOG-R) , 2006, Cortex.

[20]  Peter G. Grossenbacher,et al.  Perception and sensory information in synaesthetic experience. , 1997 .

[21]  Sanjay Shete,et al.  Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis. , 2004, American journal of human genetics.

[22]  N. Swerdlow,et al.  Dopamine, schizophrenia, mania, and depression: Toward a unified hypothesis of cortico-striatopallido-thalamic function , 1987, Behavioral and Brain Sciences.

[23]  E. T. Bullmore,et al.  Functional magnetic resonance imaging of synesthesia: activation of V4/V8 by spoken words , 2002, Nature Neuroscience.

[24]  R Freedman,et al.  Neurophysiological evidence for a defect in neuronal mechanisms involved in sensory gating in schizophrenia. , 1982, Biological psychiatry.

[25]  F. Happé.  Autism: cognitive deficit or cognitive style? , 1999, Trends in Cognitive Sciences.

[26]  H. Kennedy,et al.  Anatomical Evidence of Multimodal Integration in Primate Striate Cortex , 2002, The Journal of Neuroscience.

[27]  Jean-Baptiste Cazier,et al.  A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12. , 2009, American journal of human genetics.

[28]  D. Eagleman,et al.  A standardized test battery for the study of synesthesia , 2007, Journal of Neuroscience Methods.

[29]  M. Just,et al.  From the Selectedworks of Marcel Adam Just Inhibitory Control in High Functioning Autism: Decreased Activation and Underconnectivity in Inhibition Networks Inhibitory Control in High-functioning Autism: Decreased Activation and Underconnectivity in Inhibition Networks , 2022 .

[30]  Roel M. Willems,et al.  Altered intrinsic functional connectivity of anterior and posterior insula regions in high‐functioning participants with autism spectrum disorder , 2011, Human brain mapping.

[31]  Christopher T. Lovelace,et al.  Mechanisms of synesthesia: cognitive and physiological constraints , 2001, Trends in Cognitive Sciences.

[32]  J R O'Connell,et al.  PedCheck: a program for identification of genotype incompatibilities in linkage analysis. , 1998, American journal of human genetics.

[33]  Jamie Ward,et al.  Is Synaesthesia an X-Linked Dominant Trait with Lethality in Males? , 2005, Perception.

[34]  H. McGurk,et al.  Hearing lips and seeing voices , 1976, Nature.

[35]  D. Eagleman.  Visual illusions and neurobiology , 2001, Nature Reviews Neuroscience.

[36]  John J. Foxe,et al.  The timing and laminar profile of converging inputs to multisensory areas of the macaque neocortex. , 2002, Brain research. Cognitive brain research.

[37]  Simon Baron-Cohen,et al.  Synaesthesia: Prevalence and Familiality , 1996, Perception.

[38]  M. Just,et al.  Functional connectivity in a baseline resting-state network in autism , 2006, Neuroreport.

[39]  V. Ramachandran,et al.  Psychophysical investigations into the neural basis of synaesthesia , 2001, Proceedings of the Royal Society of London. Series B: Biological Sciences.

[40]  Ankoor S. Shah,et al.  Auditory Cortical Neurons Respond to Somatosensory Stimulation , 2003, The Journal of Neuroscience.

[41]  E. Bullmore,et al.  Behavioral / Systems / Cognitive Functional Connectivity and Brain Networks in Schizophrenia , 2010 .

[42]  Charles Lenay,et al.  Chapter 16. Sensory substitution: Limits and perspectives , 2003 .

[43]  E. Walker.  Developmentally moderated expressions of the neuropathology underlying schizophrenia. , 1994, Schizophrenia bulletin.

[44]  C. Frith,et al.  Modulation of human visual cortex by crossmodal spatial attention. , 2000, Science.

[45]  Gunnel Tybring,et al.  Quality and Quantity of Saliva DNA Obtained from the Self-administrated Oragene Method—A Pilot Study on the Cohort of Swedish Men , 2006, Cancer Epidemiology Biomarkers & Prevention.

[46]  Jason B. Mattingley,et al.  Unconscious priming eliminates automatic binding of colour and alphanumeric form in synaesthesia , 2001, Nature.

[47]  U. Frith.  Autism: Explaining the Enigma , 2005 .

[48]  A. Streri,et al.  Touching for knowing : cognitive psychology of haptic manual perception , 2003 .

[49]  Daniel Smilek,et al.  Five plus two equals yellow , 2000, Nature.

[50]  M. Goodale,et al.  Why Color Synesthesia Involves More than Color , 2022 .

[51]  R. Freedman,et al.  Effects of sound intensity on a midlatency evoked response to repeated auditory stimuli in schizophrenic and normal subjects. , 1995, Psychophysiology.

[52]  B. Gepner,et al.  Autism: A world changing too fast for a mis-wired brain? , 2009, Neuroscience & Biobehavioral Reviews.

[53]  D. Maurer.  Neonatal Synesthesia: Implications for the Processing of Speech And Faces , 1993 .