TMEM161B modulates radial glial scaffolding in neocortical development.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 36669109.
- Also identified by DOI 10.1073/pnas.2209983120 and PMC identifier 9942823.
- Licence recorded as CC BY-NC-ND.
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Abstract
<i>TMEM161B</i> encodes an evolutionarily conserved widely expressed novel 8-pass transmembrane protein of unknown function in human. Here we identify <i>TMEM161B</i> homozygous hypomorphic missense variants in our recessive polymicrogyria (PMG) cohort. Patients carrying <i>TMEM161B</i> mutations exhibit striking neocortical PMG and intellectual disability. <i>Tmem161b</i> knockout mice fail to develop midline hemispheric cleavage, whereas knock-in of patient mutations and patient-derived brain organoids show defects in apical cell polarity and radial glial scaffolding. We found that TMEM161B modulates actin filopodia, functioning upstream of the Rho-GTPase CDC42. Our data link <i>TMEM161B</i> with human PMG, likely regulating radial glia apical polarity during neocortical development.
Medical subject headings
- Neocortex