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Failed bone homeostasis in the op rat is not due to a mutation in the coding region of the Prss34 gene.
Author(s) -
Dobbins David E.
Publication year - 2011
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.25.1_supplement.492.8
Subject(s) - homeostasis , gene , mutation , genetics , biology , microbiology and biotechnology
The spontaneously occurring mutation in op rats produces an animal with severe osteopetrosis due to inadequate osteoclastic bone resorption. This mutation has been localized to a 0.51 cM portion of rat chromosome 10. Lying within the genetic critical region for op is the Prss34 gene. Prss34 ( PRSS29P in humans) is a serine protease that is preferentially expressed in bone marrow and spleen. In this study, we tested if a mutation in this gene could be responsible for the osteopetrosis seen in the op rat. M‐13 tailed primer sets were designed from rat genomic sequence to cover the 5 exons of the rat Prss34 gene. These primer sets were amplified by PCR against genomic DNA from affected mutant animals and the two parental strains. Mutational analysis of the Prss34 sequences from the three strains failed to reveal significant differences between the affected mutant animals and the two parental strains although single nucleotide polymorphisms (SNPs) between BN and the other two strains were identified in exons 2, 4 and 5. These data indicate that the osteopetrosis seen in the op rat is not the result of a mutation within the coding region of the Prss34 gene. Analysis of additional candidate genes will be required to identify the causative mutation in this animal model of failed bone homeostasis.