title: The evolutionary history of genes involved in spoken and written language: beyond FOXP2.
abstract: Humans possess a communication system based on spoken and written language. Other animals can learn vocalization by imitation, but this is not equivalent to human language. Many genes were described to be implicated in language impairment (LI) and developmental dyslexia (DD), but their evolutionary history has not been thoroughly analyzed. Herein we analyzed the evolution of ten genes involved in DD and LI. Results show that the evolutionary history of LI genes for mammals and aves was comparable in vocal-learner species and non-learners. For the human lineage, several sites showing evidence of positive selection were identified in KIAA0319 and were already present in Neanderthals and Denisovans, suggesting that any phenotypic change they entailed was shared with archaic hominins. Conversely, in FOXP2, ROBO1, ROBO2, and CNTNAP2 non-coding changes rose to high frequency after the separation from archaic hominins. These variants are promising candidates for association studies in LI and DD.
authors.affiliation: Bioinformatics, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Mozzi
authors.affiliation: Bioinformatics, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Forni
authors.affiliation: Department of Physiopathology and Transplantation, University of Milan, 20090 Milan, Italy.|Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Clerici
authors.affiliation: Bioinformatics, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Italy.
authors.forename: Uberto
authors.initials: U
authors.lastname: Pozzoli
authors.affiliation: Child Psychopathology Unit, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Lecco, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Mascheretti
authors.affiliation: Don C. Gnocchi Foundation ONLUS, IRCCS, 20100 Milan, Italy.
authors.forename: Franca R
authors.initials: FR
authors.lastname: Guerini
authors.affiliation: Bioinformatics, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Riva
authors.affiliation: Bioinformatics, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Italy.|Dino Ferrari Centre, Department of Physiopathology and Transplantation, University of Milan, Fondazione Ca' Granda IRCCS Ospedale Maggiore Policlinico, 20122 Milan, Italy.
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.affiliation: Bioinformatics, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Italy.
authors.forename: Rachele
authors.initials: R
authors.lastname: Cagliani
authors.affiliation: Bioinformatics, Scientific Institute IRCCS E. MEDEA, 23842 Bosisio Parini, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Sironi
mesh_terms: D000818:Animals; D019143:Evolution, Molecular; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D011971:Receptors, Immunologic / Q000235:genetics; D012641:Selection, Genetic; D016415:Sequence Alignment; D000097905:Roundabout Proteins
chemical_list: D051858:Forkhead Transcription Factors; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D011971:Receptors, Immunologic; D000097905:Roundabout Proteins; C403049:CNTNAP2 protein, human; C465448:FOXP2 protein, human; C498890:ROBO2 protein, human