Journal
HUMAN MOLECULAR GENETICS
Volume 20, Issue 1, Pages 64-79Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddq432
Keywords
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Funding
- NIH [UL1 DEO19583, RL1 AG032119, RL1 NS062411]
- UC Davis M.I.N.D. Institute
- Children's Miracle Network
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH094681] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [RL1NS062411] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [RL1AG032119] Funding Source: NIH RePORTER
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene. Although FXTAS generally affects premutation carriers over 50 years of age, cognitive and psychological symptoms can appear in carriers during childhood, suggesting that the FMR1 premutation affects brain function early in life. Recent work with cultured hippocampal neurons from a premutation (Fmr1 CGG knock-in) mouse model revealed impaired development of early postnatal neurons, consistent with the developmental clinical involvement of premutation carriers. In the current work, we show that the presence of premutation CGG-repeat expansions in the mouse Fmr1 gene alters embryonic neocortical development. Specifically, embryonic premutation mice display migration defects in the neocortex and altered expression of neuronal lineage markers. The current data demonstrate that premutation alleles of the Fmr1 gene are associated with defects in developmental programs operating during prenatal stages of brain formation and provide further evidence that the FMR1 premutation has a neurodevelopmental component.
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