期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 105, 期 5, 页码 1023-1029出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2019.09.021
关键词
-
资金
- Foundation for Ichthyosis and Related Skin Types
- National Institutes of Health [U54 HG006504, R01 AR068392]
We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the beta subunit of heterotetrameric adaptor protein 1 (AP-1) complexes, which mediate endomembrane polarization, sorting, and transport. In affected keratinocytes the AP-1 beta subunit is lost, and the gamma subunit is greatly reduced, demonstrating destabilization of the AP-1 complex. Affected cells and tissue contain an abundance of abnormal vesicles and show hyperproliferation, abnormal epidermal differentiation, and derangement of intercellular junction proteins. Transduction of affected cells with wild-type AP1B1 rescues the vesicular phenotype, conclusively establishing that loss of AP1B1 function causes this disorder.
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