期刊
MOLECULAR AND CELLULAR BIOLOGY
卷 28, 期 3, 页码 949-957出版社
AMER SOC MICROBIOLOGY
DOI: 10.1128/MCB.00354-07
关键词
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资金
- NHLBI NIH HHS [T32 HL007574, HL007574.23, R01 HL074247, HL074247] Funding Source: Medline
- NIAAA NIH HHS [R29 AA008769, AA008769, R37 AA008769, R01 AA008769] Funding Source: Medline
Primary ciliary dyskinesia (PCD) results from ciliary dysfunction and is commonly characterized by sinusitis, male infertility, hydrocephalus, and situs inversus. Mice homozygous for the nm1054 mutation develop phenotypes associated with PCD. On certain genetic backgrounds, homozygous mutants die perinatally from severe hydrocephalus, while mice on other backgrounds have an accumulation of mucus in the sinus cavity and male infertility. Mutant sperm lack mature flagella, while respiratory epithelial cilia are present but beat at a slower frequency than wild-type cilia. Transgenic rescue demonstrates that the PCD in nm1054 mutants results from the loss of a single gene encoding the novel primary ciliary dyskinesia protein 1 (Pcdp1). The Pcdp1 gene is expressed in spermatogenic cells and motile ciliated epithelial cells. Immunohistochemistry shows that Pcdp1 protein localizes to sperm flagella and the cilia of respiratory epithelial cells and brain ependymal cells in both mice and humans. This study demonstrates that Pcdp1 plays an important role in ciliary and flagellar biogenesis and motility, making the nm1054 mutant a useful model for studying the molecular genetics and pathogenesis of PCD.
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