Evidence That Dmrta2 Acts through Repression of Pax6 in Cortical Patterning and Identification of a Mutation Impairing DNA Recognition Associated with Microcephaly in Human.

doi:10.1523/ENEURO.0377-24.2025

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Evidence That Dmrta2 Acts through Repression of Pax6 in Cortical Patterning and Identification of a Mutation Impairing DNA Recognition Associated with Microcephaly in Human.

eNeuro - 1 Jun 2025

Shen Xueyi, Anirudhan Jithu, Fatima Ambrin, Plant Estelle, Szemes Tünde, Bouveret Zélie, Keruzore Marc, Kricha Sadia, Nan Xinsheng, Sabaté San José Alba, Bianchin Samuel, Veraghen Bérénice, Delhaye Louis-Paul, Mian Bilal Ahmad, Khalid Lubaba Bintee, Ali Farhan, Zahra Hijab, Ali Asmat, Toft Mathias, Dieu Marc, Achouri Younes, Li Meng, Renard Patricia, Van Lint Carine, Poulard Coralie, Iqbal Zafar, Bellefroid Eric J

Abstract excerpt

Dmrta2 (also designated Dmrt5) is a transcriptional regulator expressed in cortical progenitors in a caudomedialhigh/rostrolaterallow gradient with important roles at different steps of cortical development. Dmrta2 has been suggested to act in cortex development mainly by differential suppression of Pax6 and other homeobox transcription factors such as the ventral telencephalic regulator Gsx2, which remains to be...

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Topics

PAX6 Transcription Factor
Humans
Animals

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Microcephaly

Transcription Factors

Cerebral Cortex

Gene Expression Regulation, Developmental

Mice

Mutation

Body Patterning

Female

Homeodomain Proteins

DNA

Source

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Identifiers

PMID: 40541527
DOI: 10.1523/ENEURO.0377-24.2025
PMCID: PMC12186615

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