The aromatase gene CYP19A1: Several genetic and functional lines of evidence supporting a role in reading, speech and language

Heidi Anthoni, Lara E. Sucheston, Barbara A. Lewis, Isabel Tapia-Páez, Xiaotang Fan, Marco Zucchelli, Mikko Taipale, Catherine M. Stein, Marie Estelle Hokkanen, Eero Castrén, Bruce F. Pennington, Shelley D. Smith, Richard K. Olson, J. Bruce Tomblin, Gerd Schulte-Körne, Markus Nöthen, Johannes Schumacher, Bertram Müller-Myhsok, Per Hoffmann, Jeffrey W. GilgerGeorge W. Hynd, Jaana Nopola-Hemmi, Paavo H T Leppanen, Heikki Lyytinen, Jacqueline Schoumans, Magnus Nordenskjöld, Jason Spencer, Davor Stanic, Wah Chin Boon, Evan Simpson, Sari Mäkelä, Jan Åke Gustafsson, Myriam Peyrard-Janvid, Sudha Iyengar, Juha Kere

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


Inspired by the localization, on 15q21.2 of the CYP19A1 gene in the linkage region of speech and language disorders, and a rare translocation in a dyslexic individual that was brought to our attention, we conducted a series of studies on the properties of CYP19A1 as a candidate gene for dyslexia and related conditions. The aromatase enzyme is a member of the cytochrome P450 super family, and it serves several key functions: it catalyzes the conversion of androgens into estrogens; during early mammalian development it controls the differentiation of specific brain areas (e.g. local estrogen synthesis in the hippocampus regulates synaptic plasticity and axonal growth); it is involved in sexual differentiation of the brain; and in songbirds and teleost fishes, it regulates vocalization. Our results suggest that variations in CYP19A1 are associated with dyslexia as a categorical trait and with quantitative measures of language and speech, such as reading, vocabulary, phonological processing and oral motor skills. Variations near the vicinity of its brain promoter region altered transcription factor binding, suggesting a regulatory role in CYP19A1 expression. CYP19A1 expression in human brain correlated with the expression of dyslexia susceptibility genes such as DYX1C1 and ROBO1. Aromatasedeficient mice displayed increased cortical neuronal density and occasional cortical heterotopias, also observed in Robo1-/-mice and human dyslexic brains, respectively. An aromatase inhibitor reduced dendritic growth in cultured rat neurons. From this broad set of evidence, we propose CYP19A1 as a candidate gene for human cognitive functions implicated in reading, speech and language.

Original languageEnglish (US)
Pages (from-to)509-527
Number of pages19
JournalBehavior Genetics
Issue number4
StatePublished - Jul 2012


  • Categorical trait association
  • Dyslexia
  • Estrogen synthesis
  • Quantitative trait analysis
  • SLI
  • SSD
  • Translocation breakpoint

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Ecology, Evolution, Behavior and Systematics


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