yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
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Bernardo Blanco-Sánchez aff001; Aurélie Clément aff001; Sara J. Stednitz aff001; Jennifer Kyle aff002; Judy L. Peirce aff001; Marcie McFadden aff001; Jeremy Wegner aff001; Jennifer B. Phillips aff001; Ellen Macnamara aff003; Yan Huang aff003; David R. Adams aff003; Camilo Toro aff003; William A. Gahl aff003; May Christine V. Malicdan aff003; Cynthia J. Tifft aff003; Erika M. Zink aff002; Kent J. Bloodsworth aff002; Kelly G. Stratton aff002; ; David M. Koeller aff006; Thomas O. Metz aff002; Philip Washbourne aff001; Monte Westerfield aff001
Působiště autorů:
Institute of Neuroscience, University of Oregon, Eugene, Oregon, United States of America
aff001; Pacific Northwest National Laboratory, Richland, Washington, United States of America
aff002; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America
aff003; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
aff004; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
aff005; Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, Oregon, United States of America
aff006
Vyšlo v časopise:
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. PLoS Genet 16(6): e32767. doi:10.1371/journal.pgen.1008841
Kategorie:
Research Article
doi:
https://doi.org/10.1371/journal.pgen.1008841
Souhrn
Hypomyelination, a neurological condition characterized by decreased production of myelin sheets by glial cells, often has no known etiology. Elucidating the genetic causes of hypomyelination provides a better understanding of myelination, as well as means to diagnose, council, and treat patients. Here, we present evidence that YIPPEE LIKE 3 (YPEL3), a gene whose developmental role was previously unknown, is required for central and peripheral glial cell development. We identified a child with a constellation of clinical features including cerebral hypomyelination, abnormal peripheral nerve conduction, hypotonia, areflexia, and hypertrophic peripheral nerves. Exome and genome sequencing revealed a de novo mutation that creates a frameshift in the open reading frame of YPEL3, leading to an early stop codon. We used zebrafish as a model system to validate that YPEL3 mutations are causative of neuropathy. We found that ypel3 is expressed in the zebrafish central and peripheral nervous system. Using CRISPR/Cas9 technology, we created zebrafish mutants carrying a genomic lesion similar to that of the patient. Our analysis revealed that Ypel3 is required for development of oligodendrocyte precursor cells, timely exit of the perineurial glial precursors from the central nervous system (CNS), formation of the perineurium, and Schwann cell maturation. Consistent with these observations, zebrafish ypel3 mutants have metabolomic signatures characteristic of oligodendrocyte and Schwann cell differentiation defects, show decreased levels of Myelin basic protein in the central and peripheral nervous system, and develop defasciculated peripheral nerves. Locomotion defects were observed in adult zebrafish ypel3 mutants. These studies demonstrate that Ypel3 is a novel gene required for perineurial cell development and glial myelination.
Klíčová slova:
Axons – Central nervous system – Larvae – Nerves – Schwann cells – Somites – Spinal cord – Zebrafish
Zdroje
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