RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS Article Swipe

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Avinash V. Dharmadhikari , Maria Alba Abad , Sheraz Khan , Reza Maroofian , Tristan T. Sands , Farid Ullah , Itaru Samejima , Martin A. Wear , Kiara E. Moore , Elena Kondakova , Natalia Mitina , Theres Schaub , Grace K Lee , Christine Umandap , Sara M. Berger , Alejandro Iglesias , Bernt Popp , Rami Abou Jamra , Heinz Gabriel , Stefan Rentas , Alyssa L. Rippert , Kosuke Izumi , Laura K. Conlin , Daniel C. Koboldt , Theresa Mihalic Mosher , Scott E. Hickey , Dara V.F. Albert , Haley Norwood , Amy Feldman Lewanda , Hongzheng Dai , Pengfei Liu , Tadahiro Mitani , Dana Marafi , Davut Pehli̇van , Jennifer E. Posey , Natalie Lippa , Natalie Vena , Erin L. Heinzen , David B. Goldstein , Cyril Mignot , Jean‐Madeleine de Sainte Agathe , Nouriya Al‐Sannaa , Mina Zamani , Saeid Sadeghian , Tahere Seifia , Maha S. Zaki , Ghada M. H. Abdel‐Salam , Mohamed S. Abdel‐Hamid , Lama AlAbdi , Fowzan S. Alkuraya , Heba Dawoud , Aya Lofty , Peter Bauer , Giovanni Zifarelli , Erum Afzal , Faisal Zafar , Stéphanie Efthymiou , Daniel R. Gossett , Meghan C. Towne , Raey Yeneabat , Sandeep N. Wontakal , Vimla S. Aggarwal , Jill A. Rosenfeld , Victor Tarabykin , Shinya Ohta , James R. Lupski , Henry Houlden , William C. Earnshaw , Erica E. Davis , A. Arockia Jeyaprakash , Jun Liao ·

YOU? · · 2024 · Open Access · · DOI: https://doi.org/10.1101/2024.01.09.23300329

SUMMARY SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene matching platforms, we identified 24 individuals with neurodevelopmental delays from 18 families with bi-allelic variants in SPOUT1/CENP-32 detected by exome/genome sequencing. Zebrafish spout1/cenp-32 mutants showed reduction in larval head size with concomitant apoptosis likely associated with altered cell cycle progression. In vivo complementation assays in zebrafish indicated that SPOUT1/CENP-32 missense variants identified in humans are pathogenic. Crystal structure analysis of SPOUT1/CENP-32 revealed that most disease-associated missense variants mapped to the catalytic domain. Additionally, SPOUT1/CENP-32 recurrent missense variants had reduced methyltransferase activity in vitro and compromised centrosome tethering to the spindle poles in human cells. Thus, SPOUT1/CENP-32 pathogenic variants cause an autosomal recessive neurodevelopmental disorder: SpADMiSS ( SPOUT1 Associated Development delay Microcephaly Seizures Short stature) underpinned by mitotic spindle organization defects and consequent chromosome segregation errors.

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Catechol-O-Methyltransferase

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Neurodevelopmental disorder Mitosis Methyltransferase Biology Spindle apparatus Cell biology Neuroscience Genetics Methylation Gene Cell Cell division

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Type: preprint
Language: en
Landing Page: https://doi.org/10.1101/2024.01.09.23300329
PDF: https://www.medrxiv.org/content/medrxiv/early/2024/01/09/2024.01.09.23300329.full.pdf
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DOI: https://doi.org/10.1101/2024.01.09.23300329

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Title: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

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Language: en

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Publication year: 2024

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Authors: Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K Lee, Christine Umandap, Sara M. Berger, Alejandro Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V.F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Natalie Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean‐Madeleine de Sainte Agathe, Nouriya Al‐Sannaa, Mina Zamani, Saeid Sadeghian, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Mohamed S. Abdel‐Hamid, Lama AlAbdi, Fowzan S. Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stéphanie Efthymiou, Daniel R. Gossett, Meghan C. Towne, Raey Yeneabat, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

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Concepts: Neurodevelopmental disorder, Mitosis, Methyltransferase, Biology, Spindle apparatus, Cell biology, Neuroscience, Genetics, Methylation, Gene, Cell, Cell division

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