Absence of the RING domain in MID1 results in patterning defects in the developing human brain
The X-linked form of Opitz BBB/G syndrome (OS) is a monogenic disorder in which symptoms are established early during embryonic development. OS is caused by pathogenic variants in the X-linked gene MID1. Disease-associated variants are distributed across the entire gene locus, except for the N-termi...
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| Hauptverfasser: | , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
April 2024
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| In: |
Life science alliance
Year: 2024, Jahrgang: 7, Heft: 4, Pages: 1-14 |
| ISSN: | 2575-1077 |
| DOI: | 10.26508/lsa.202302288 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.26508/lsa.202302288 Verlag, kostenfrei, Volltext: https://www.life-science-alliance.org/content/7/4/e202302288 
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| Verfasserangaben: | Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko Brennenstuhl, Sven Falk, Marisa Karow, Susann Schweiger |
MARC
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| 245 | 1 | 0 | |a Absence of the RING domain in MID1 results in patterning defects in the developing human brain |c Sarah Frank, Elisa Gabassi, Stephan Käseberg, Marco Bertin, Lea Zografidou, Daniela Pfeiffer, Heiko Brennenstuhl, Sven Falk, Marisa Karow, Susann Schweiger |
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| 520 | |a The X-linked form of Opitz BBB/G syndrome (OS) is a monogenic disorder in which symptoms are established early during embryonic development. OS is caused by pathogenic variants in the X-linked gene MID1. Disease-associated variants are distributed across the entire gene locus, except for the N-terminal really interesting new gene (RING) domain that encompasses the E3 ubiquitin ligase activity. By using genome-edited human induced pluripotent stem cell lines, we here show that absence of isoforms containing the RING domain of MID1 causes severe patterning defects in human brain organoids. We observed a prominent neurogenic deficit with a reduction in neural tissue and a concomitant increase in choroid plexus-like structures. Transcriptome analyses revealed a deregulation of patterning pathways very early on, even preceding neural induction. Notably, the observed phenotypes starkly contrast with those observed in MID1 full-knockout organoids, indicating the presence of a distinct mechanism that underlies the patterning defects. The severity and early onset of these phenotypes could potentially account for the absence of patients carrying pathogenic variants in exon 1 of the MID1 gene coding for the N-terminal RING domain. | ||
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| 700 | 1 | |a Käseberg, Stephan |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bertin, Marco |e VerfasserIn |4 aut | |
| 700 | 1 | |a Zografidou, Lea |e VerfasserIn |4 aut | |
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| 700 | 1 | |a Karow, Marisa |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schweiger, Susann |e VerfasserIn |4 aut | |
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