Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder.

摘要: Introduction Williams-Beuren syndrome (WBS) is a developmental disorder caused by hemizygous deletion of human chromosome 7q11.23. Hypersocial behavior one symptom WBS and contrasts with hyposociality observed in autism spectrum (ASD). Interestingly, duplications 7q11.23 have been associated ASD. The social phenotype has linked to GTF2I or general transcription factor IIi (TFII-I). Duplication also Methods We compared mice having either (Gtf2i+/- ) duplication (Gtf2i+/dup Gtf2i wild-type (Gtf2i+/+ littermate controls series behavioral tasks including open-field activity monitoring, olfactory probes, choice task, transmission food preference, habituation-dishabituation, operant motivation paradigms. Results In observations, Gtf2i+/- Gtf2i+/dup demonstrated normal thigmotaxis, surprisingly, each strain showed significant preference for stimulus mouse that was not Gtf2i+/+ siblings. Both olfaction buried but the spent significantly more time investigating urine scent versus water, which other strains. nose-to-nose contact siblings during encounter task. motivation, made presses rewards than siblings, while there no difference mice. Discussion were remarkably consistent across testing paradigms supporting role GTF2i hypersocial broadly regulation behavior. Support