TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 120; no. 4; p. e2209964120
• Main Authors: Akula, Shyam K., Marciano, Jack H., Lim, Youngshin, Exposito-Alonso, David, Hylton, Norma K., Hwang, Grace H., Neil, Jennifer E., Dominado, Nicole, Bunton-Stasyshyn, Rosie K., Song, Janet H. T., Talukdar, Maya, Schmid, Aloisia, Teboul, Lydia, Mo, Alisa, Shin, Taehwan, Finander, Benjamin, Beck, Samantha G., Yeh, Rebecca C., Otani, Aoi, Qian, Xuyu, DeGennaro, Ellen M., Alkuraya, Fowzan S., Maddirevula, Sateesh, Cascino, Gregory D., Giannini, Caterina, Burrage, Lindsay C., Rosenfield, Jill A., Ketkar, Shamika, Clark, Gary D., Bacino, Carlos, Lewis, Richard A., Segal, Rosalind A., Bazan, J. Fernando, Smith, Kelly A., Golden, Jeffrey A., Cho, Ginam, Walsh, Christopher A., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Butte, Manish J., Chen, Shan, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Dorset, Daniel C., Douglas, Jessica, Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L.
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 24.01.2023
• Subjects: Animal models; Animals; Biological Sciences; Central nervous system; Central Nervous System - metabolism; Cilia; Cilia - genetics; Cilia - metabolism; Defects; Depletion; Embryogenesis; Embryonic growth stage; Female; Ferrets; Gyration; Hedgehog protein; Hedgehog Proteins - genetics; Hedgehog Proteins - metabolism; Histogenesis; Holoprosencephaly; Humans; Mice; Mice, Knockout; Phenotypes; Polymicrogyria; Pregnancy; Scanning electron microscopy; Signal Transduction; Signaling; Spinal cord; Ventricle; Ventricular zone; polymicrogyria; holoprosencephaly; cortical gyration; primary cilia; Sonic Hedgehog

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cortical folding) revealed multiple individuals with biallelic d...