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Publication : Strain-specific polymorphisms in Paneth cell α-defensins of C57BL/6 mice and evidence of vestigial myeloid α-defensin pseudogenes.

First Author  Shanahan MT Year  2011
Journal  Infect Immun Volume  79
Issue  1 Pages  459-73
PubMed ID  21041494 Mgi Jnum  J:167061
Mgi Id  MGI:4867114 Doi  10.1128/IAI.00996-10
Citation  Shanahan MT, et al. (2011) Strain-specific polymorphisms in Paneth cell alpha-defensins of C57BL/6 mice and evidence of vestigial myeloid alpha-defensin pseudogenes. Infect Immun 79(1):459-73
abstractText  Paneth cells at the base of small intestinal crypts secrete microbicidal alpha-defensins, termed cryptdins (Crps) in mice, as mediators of innate immunity. Proteomic studies show that five abundant Paneth cell alpha-defensins in C57BL/6 mice are strain specific in that they have not been identified in other inbred strains of mice. Two C57BL/6-specific peptides are coded for by the Defcr20 and -21 genes evident in the NIH C57BL/6 genome but absent from the Celera mixed-strain assembly, which excludes C57BL/6 data and differs from the NIH build with respect to the organization of the alpha-defensin gene locus. Conversely, C57BL/6 mice lack the Crp1, -2, -4, and -6 peptides and their corresponding Defcr1, -2, -4, and -6 genes, which are common to several mouse strains, including those of the Celera assembly. In C57BL/6 mice, alpha-defensin gene diversification appears to have occurred by tandem duplication of a multigene cassette that was not found in the mixed-strain assembly. Both mouse genome assemblies contain conserved alpha-defensin pseudogenes that are closely related to functional myeloid alpha-defensin genes in the rat, suggesting that the neutrophil alpha-defensin defect in mice resulted from progressive gene loss. Given the role of alpha-defensins in shaping the composition of the enteric microflora, such polymorphisms may influence outcomes in mouse models of disease or infection.
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