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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. 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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. 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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes

http://hdl.handle.net/10091/00019827
9a2954f9-08ad-4997-9a28-2b2a525cd3e9
名前 / ファイル ライセンス アクション
Exome_Exome_sequencing_senescence-accelerated_mice_SAM_reveals.pdf Exome_Exome_sequencing_senescence-accelerated_mice_SAM_reveals.pdf (1.2 MB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2017-09-20
タイトル
言語 en
タイトル Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes
言語
言語 eng
キーワード
主題Scheme Other
主題 Exome sequencing
キーワード
主題Scheme Other
主題 Senescence-accelerated mice
キーワード
主題Scheme Other
主題 Aging
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Tanisawa, Kumpei

× Tanisawa, Kumpei

WEKO 103976

en Tanisawa, Kumpei

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Mikami, Eri

× Mikami, Eri

WEKO 103977

en Mikami, Eri

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Fuku, Noriyuki

× Fuku, Noriyuki

WEKO 103978

en Fuku, Noriyuki

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Honda, Yoko

× Honda, Yoko

WEKO 103979

en Honda, Yoko

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Honda, Shuji

× Honda, Shuji

WEKO 103980

en Honda, Shuji

Search repository
Ohsawa, Ikuro

× Ohsawa, Ikuro

WEKO 103981

en Ohsawa, Ikuro

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Ito, Masafumi

× Ito, Masafumi

WEKO 103982

en Ito, Masafumi

Search repository
Endo, Shogo

× Endo, Shogo

WEKO 103983

en Endo, Shogo

Search repository
Ihara, Kunio

× Ihara, Kunio

WEKO 103984

en Ihara, Kunio

Search repository
Ohno, Kinji

× Ohno, Kinji

WEKO 103985

en Ohno, Kinji

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Kishimoto, Yuki

× Kishimoto, Yuki

WEKO 103986

en Kishimoto, Yuki

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Ishigami, Akihito

× Ishigami, Akihito

WEKO 103987

en Ishigami, Akihito

Search repository
Maruyama, Naoki

× Maruyama, Naoki

WEKO 103988

en Maruyama, Naoki

Search repository
Sawabe, Motoji

× Sawabe, Motoji

WEKO 103989

en Sawabe, Motoji

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Iseki, Hiroyoshi

× Iseki, Hiroyoshi

WEKO 103990

en Iseki, Hiroyoshi

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Okazaki, Yasushi

× Okazaki, Yasushi

WEKO 103991

en Okazaki, Yasushi

Search repository
Hasegawa-Ishii, Sanae

× Hasegawa-Ishii, Sanae

WEKO 103992

en Hasegawa-Ishii, Sanae

Search repository
Takei, Shiro

× Takei, Shiro

WEKO 103993

en Takei, Shiro

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Shimada, Atsuyoshi

× Shimada, Atsuyoshi

WEKO 103994

en Shimada, Atsuyoshi

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Hosokawa, Masanori

× Hosokawa, Masanori

WEKO 103995

en Hosokawa, Masanori

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Mori, Masayuki

× Mori, Masayuki

WEKO 103996

en Mori, Masayuki

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Higuchi, Keiichi

× Higuchi, Keiichi

WEKO 103997

en Higuchi, Keiichi

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Takeda, Toshio

× Takeda, Toshio

WEKO 103998

en Takeda, Toshio

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Higuchi, Mitsuru

× Higuchi, Mitsuru

WEKO 103999

en Higuchi, Mitsuru

Search repository
Tanaka, Masashi

× Tanaka, Masashi

WEKO 104000

en Tanaka, Masashi

Search repository
信州大学研究者総覧へのリンク
氏名 Mori, Masayuki
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.OpSCZafV.html
信州大学研究者総覧へのリンク
氏名 Higuchi, Keiichi
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.gCfUPmAh.html
出版者
出版者 BIOMED CENTRAL LTD
引用
内容記述タイプ Other
内容記述 BMC GENOMICS. 14:248 (2013)
書誌情報 BMC GENOMICS

巻 14, p. 248, 発行日 2013-04-16
抄録
内容記述タイプ Abstract
内容記述 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.
資源タイプ(コンテンツの種類)
内容記述タイプ Other
内容記述 Article
ISSN
収録物識別子タイプ PISSN
収録物識別子 1471-2164
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AA12034967
PubMed
関連識別子
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/23586671
関連名称
関連名称 23586671
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1186/1471-2164-14-248
関連名称
関連名称 10.1186/1471-2164-14-248
権利
権利情報 © Tanisawa et al.; licensee BioMed Central Ltd. 2013 This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
WoS
表示名 Web of Science
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000318521900001
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