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Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.

Abstract：

:Mutations in the thyroid hormone receptor α 1 gene (THRA) have recently been identified as a cause of intellectual deficit in humans. Patients present with structural abnormalities including microencephaly, reduced cerebellar volume and decreased axonal density. Here, we show that directed differentiation of THRA mutant patient-derived induced pluripotent stem cells to forebrain neural progenitors is markedly reduced, but mutant progenitor cells can generate deep and upper cortical layer neurons and form functional neuronal networks. Quantitative lineage tracing shows that THRA mutation-containing progenitor cells exit the cell cycle prematurely, resulting in reduced clonal output. Using a micropatterned chip assay, we find that spatial self-organization of mutation-containing progenitor cells in vitro is impaired, consistent with down-regulated expression of cell-cell adhesion genes. These results reveal that thyroid hormone receptor α1 is required for normal neural progenitor cell proliferation in human cerebral cortical development. They also exemplify quantitative approaches for studying neurodevelopmental disorders using patient-derived cells in vitro.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

Krieger TG,Moran CM,Frangini A,Visser WE,Schoenmakers E,Muntoni F,Clark CA,Gadian D,Chong WK,Kuczynski A,Dattani M,Lyons G,Efthymiadou A,Varga-Khadem F,Simons BD,Chatterjee K,Livesey FJ

doi

10.1073/pnas.1908762116

subject

Has Abstract

pub_date

2019-11-05 00:00:00

pages

22754-22763

issue

45

eissn

0027-8424

issn

1091-6490

pii

1908762116

journal_volume

116

pub_type

杂志文章

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