Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia

Foxr1 is a member of the evolutionarily conserved forkhead box (Fox) family of transcription factors, characterized by a winged-helix DNA-binding domain. We previously demonstrated that Foxr1 deletion in mice results in severe perinatal lethality, cortical thinning, and ventricular enlargement, indi...

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Main Authors: Hannah Waxman, Marcus Kankkunen, Arya Gupta, Margo Dowgiewicz, Uwe Beffert, Angela Ho
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Neuroscience
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Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2025.1589043/full
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author Hannah Waxman
Marcus Kankkunen
Arya Gupta
Margo Dowgiewicz
Uwe Beffert
Angela Ho
author_facet Hannah Waxman
Marcus Kankkunen
Arya Gupta
Margo Dowgiewicz
Uwe Beffert
Angela Ho
author_sort Hannah Waxman
collection DOAJ
description Foxr1 is a member of the evolutionarily conserved forkhead box (Fox) family of transcription factors, characterized by a winged-helix DNA-binding domain. We previously demonstrated that Foxr1 deletion in mice results in severe perinatal lethality, cortical thinning, and ventricular enlargement, indicating its essential role in survival and brain development. Here, we extend these findings by showing that Foxr1 knockout mice develop microcephaly accompanied by cortical and hippocampal hypoplasia at postnatal day 0 (P0). Cortical thinning is primarily driven by a significant reduction in layer 2/3 neurons, linked to impaired generation of later-born neurons. This reduction correlates with decreased proliferation of progenitors (Ki67- and Tbr2-positive cells) at embryonic day 16.5 (E16.5), a critical period for upper-layer neurogenesis. In the hippocampus, Foxr1 knockouts exhibit reduced area, and cell counts at P0, accompanied by increased proliferation (Ki67-positive cells), and elevated apoptosis (CC3-positive) at E16.5, suggesting broader disruptions in progenitor maintenance. Together, these findings suggest Foxr1 is an important regulator of progenitor dynamics and neuron production in cortical and hippocampal development.
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spelling doaj-art-c623cf01afca40288b3b9142782dd6ee2025-08-20T01:57:12ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2025-05-011910.3389/fnins.2025.15890431589043Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasiaHannah WaxmanMarcus KankkunenArya GuptaMargo DowgiewiczUwe BeffertAngela HoFoxr1 is a member of the evolutionarily conserved forkhead box (Fox) family of transcription factors, characterized by a winged-helix DNA-binding domain. We previously demonstrated that Foxr1 deletion in mice results in severe perinatal lethality, cortical thinning, and ventricular enlargement, indicating its essential role in survival and brain development. Here, we extend these findings by showing that Foxr1 knockout mice develop microcephaly accompanied by cortical and hippocampal hypoplasia at postnatal day 0 (P0). Cortical thinning is primarily driven by a significant reduction in layer 2/3 neurons, linked to impaired generation of later-born neurons. This reduction correlates with decreased proliferation of progenitors (Ki67- and Tbr2-positive cells) at embryonic day 16.5 (E16.5), a critical period for upper-layer neurogenesis. In the hippocampus, Foxr1 knockouts exhibit reduced area, and cell counts at P0, accompanied by increased proliferation (Ki67-positive cells), and elevated apoptosis (CC3-positive) at E16.5, suggesting broader disruptions in progenitor maintenance. Together, these findings suggest Foxr1 is an important regulator of progenitor dynamics and neuron production in cortical and hippocampal development.https://www.frontiersin.org/articles/10.3389/fnins.2025.1589043/fullFoxr1transcription factorsmicrocephalycortexmouse
spellingShingle Hannah Waxman
Marcus Kankkunen
Arya Gupta
Margo Dowgiewicz
Uwe Beffert
Angela Ho
Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia
Frontiers in Neuroscience
Foxr1
transcription factors
microcephaly
cortex
mouse
title Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia
title_full Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia
title_fullStr Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia
title_full_unstemmed Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia
title_short Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia
title_sort foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia
topic Foxr1
transcription factors
microcephaly
cortex
mouse
url https://www.frontiersin.org/articles/10.3389/fnins.2025.1589043/full
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