@article{oai:soar-ir.repo.nii.ac.jp:00019065,
 author = {Tanisawa, Kumpei and Mikami, Eri and Fuku, Noriyuki and Honda, Yoko and Honda, Shuji and Ohsawa, Ikuro and Ito, Masafumi and Endo, Shogo and Ihara, Kunio and Ohno, Kinji and Kishimoto, Yuki and Ishigami, Akihito and Maruyama, Naoki and Sawabe, Motoji and Iseki, Hiroyoshi and Okazaki, Yasushi and Hasegawa-Ishii, Sanae and Takei, Shiro and Shimada, Atsuyoshi and Hosokawa, Masanori and Mori, Masayuki and Higuchi, Keiichi and Takeda, Toshio and Higuchi, Mitsuru and Tanaka, Masashi},
 journal = {BMC GENOMICS},
 month = {Apr},
 note = {Background: Senescence-accelerated mice (SAM) are a series of mouse strains originally derived from unexpected crosses between AKR/J and unknown mice, from which phenotypically distinct senescence-prone (SAMP) and -resistant (SAMR) inbred strains were subsequently established. Although SAMP strains have been widely used for aging research focusing on their short life spans and various age-related phenotypes, such as immune dysfunction, osteoporosis, and brain atrophy, the responsible gene mutations have not yet been fully elucidated. Results: To identify mutations specific to SAMP strains, we performed whole exome sequencing of 6 SAMP and 3 SAMR strains. This analysis revealed 32,019 to 38,925 single-nucleotide variants in the coding region of each SAM strain. We detected Ogg1 p.R304W and Mbd4 p.D129N deleterious mutations in all 6 of the SAMP strains but not in the SAMR or AKR/J strains. Moreover, we extracted 31 SAMP-specific novel deleterious mutations. In all SAMP strains except SAMP8, we detected a p.R473W missense mutation in the Ldb3 gene, which has been associated with myofibrillar myopathy. In 3 SAMP strains (SAMP3, SAMP10, and SAMP11), we identified a p.R167C missense mutation in the Prx gene, in which mutations causing hereditary motor and sensory neuropathy (Dejerine-Sottas syndrome) have been identified. In SAMP6 we detected a p.S540fs frame-shift mutation in the Il4ra gene, a mutation potentially causative of ulcerative colitis and osteoporosis. Conclusions: Our data indicate that different combinations of mutations in disease-causing genes may be responsible for the various phenotypes of SAMP strains., Article, BMC GENOMICS. 14:248 (2013)},
 title = {Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes},
 volume = {14},
 year = {2013}
}