ArticleMolecular and cellular biology2002
Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome.
Article in Molecular and cellular biology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 137 citations in OpenAlex.
- Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management.Biomedicines · 2025Review
- FromiScience · 2024Article
- Chk2 deletion rescues Bmi1 deficiency-induced mandibular osteoporosis by blocking DNA damage response pathway.American journal of translational research · 2023Article
- Upregulated SPAG6 promotes acute myeloid leukemia progression through MYO1D that regulates the EGFR family expression.Blood advances · 2022Article
- Ependymal Cilia: Physiology and Role in Hydrocephalus.Frontiers in molecular neuroscience · 2022Review
- Motile cilia genetics and cell biology: big results from little mice.Cellular and molecular life sciences : CMLS · 2021Review
- DNA damage checkpoint pathway modulates the regulation of skeletal growth and osteoblastic bone formation by parathyroid hormone-related peptide.International journal of biological sciences · 2018Article
- Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.G3 (Bethesda, Md.) · 2016Article
- Sperm dysfunction and ciliopathy.Reproductive medicine and biology · 2016Review
- CRISPR/Cas9-Mediated Rapid Generation of Multiple Mouse Lines Identified Ccdc63 as Essential for Spermiogenesis.International journal of molecular sciences · 2015Article
- CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice.Molecular biology of the cell · 2015Article
- Arabidopsis DNA polymerase lambda mutant is mildly sensitive to DNA double strand breaks but defective in integration of a transgene.Frontiers in plant science · 2015Article
- Strain-dependent brain defects in mouse models of primary ciliary dyskinesia with mutations in Pcdp1 and Spef2.Neuroscience · 2014Article
- Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration.Molecular therapy. Nucleic acids · 2014Article
- A simple method to obtain pure cultures of multiciliated ependymal cells from adult rodents.Histochemistry and cell biology · 2013Article
- Two rotating cilia in the node cavity are sufficient to break left-right symmetry in the mouse embryo.Nature communications · 2012Article
- Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.Biology of reproduction · 2011Article
- Polymerases in nonhomologous end joining: building a bridge over broken chromosomes.Antioxidants & redox signaling · 2011Review
- Choosing the right path: does DNA-PK help make the decision?Mutation research · 2011Review
- Mendelian genetics of male infertility.Annals of the New York Academy of Sciences · 2010Review
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A growing number of DNA polymerases have been identified, although their physiological function and relation to human disease remain mostly unknown. DNA polymerase lambda (Pol lambda; also known as Pol beta2) has recently been identified as a member of the X family of DNA polymerases and shares 32% amino acid sequence identity with DNA Pol beta within the polymerase domain. With the use of homologous recombination, we generated Pol lambda(-/-) mice. Pol lambda(-/-) mice develop hydrocephalus with marked dilation of the lateral ventricles and exhibit a high rate of mortality after birth, although embryonic development appears normal. Pol lambda(-/-) mice also show situs inversus totalis and chronic suppurative sinusitis. The surviving male, but not female, Pol lambda(-/-) mice are sterile as a result of spermatozoal immobility. Microinjection of sperm from male Pol lambda(-/-) mice into oocytes gives rise to normal offspring, suggesting that the meiotic process is not impaired. Ultrastructural analysis reveals that inner dynein arms of cilia from both the ependymal cell layer and respiratory epithelium are defective, which may underlie the pathogenesis of hydrocephalus, situs inversus totalis, chronic sinusitis, and male infertility. Sensitivity of Pol lambda(-/-) cells to various kinds of DNA damage is indistinguishable from that of Pol lambda(+/+) cells. Collectively, Pol lambda(-/-) mice may provide a useful model for clarifying the pathogenesis of immotile cilia syndrome.
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