期刊
ISCIENCE
卷 15, 期 -, 页码 257-+出版社
CELL PRESS
DOI: 10.1016/j.isci.2019.04.030
关键词
-
资金
- European Community ERANET-NEURON ImprovVision project
- Telethon [GGP12152]
- Associazione Italiana Ricerca sul Cancro (AIRC) (IG-2014)
- Cariplo
- VINCI PhD fellowship from the Universita Italo-Francese/Universite Franco-Italienne
- MINECO [PCIN-2015-176-C02-01, BFU2016-75412-R]
- FEDER funds
Visual system development involves the formation of neuronal projections connecting the retina to the thalamic dorso-lateral geniculate nucleus (dLGN) and the thalamus to the visual cerebral cortex. Patients carrying mutations in the SOX2 transcription factor gene present severe visual defects, thought to be linked to SOX2 functions in the retina. We show that Sox2 is strongly expressed in mouse postmitotic thalamic projection neurons. Cre-mediated deletion of Sox2 in these neurons causes reduction of the dLGN, abnormal distribution of retino-thalamic and thalamo-cortical projections, and secondary defects in cortical patterning. Reduced expression, in mutants, of Sox2 target genes encoding ephrin-A5 and the serotonin transport molecules SERT and vMAT2 (important for establishment of thalamic connectivity) likely provides a molecular contribution to these defects. These findings unveil thalamic SOX2 function as a novel regulator of visual system development and a plausible additional cause of brain-linked genetic blindness in humans.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据