| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2020-07-20 |
| タイトル |
|
|
タイトル |
GENETIC AND MOLECULAR ANALYSES OF P53 IN A JAPANESE FAMILY WITH LI-FRAUMENI SYNDROME |
|
言語 |
en |
| 言語 |
|
|
言語 |
jpn |
| 主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Li-Fraumeni syndrome |
| 主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
P53 |
| 主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Subcellular localization |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| ID登録 |
|
|
ID登録 |
10.20569/00005087 |
|
ID登録タイプ |
JaLC |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 作成者 |
Kodama, Koya
Yano, Michihiro
Noguchi, Atsuko
Uehara, Tomoko
Kosaki, Kenjiro
Takahashi, Tsutomu
|
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
LiFraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome associated with a broad spectrum of early-onset tumors including bone and soft-tissue sarcoma,central nervous system tumors,leukemia,adrenocortical carcinoma,and breast cancer.This syndrome is associated with the P53 gene in 80% of families that fulfill the clinical criteria.Exome sequencing analysis of the P53 gene was performed on a Japanese family with LFS that includes a 2.5-year-old boy with rhabdomyosarcoma, his mother with osteosarcoma and lung cancer at 11 and 37 years old, respectively, and his maternal grandfather with osteosarcoma and gastric cancer at 12 and 42 years old, respectively. A heterozygous germline mutation in the P53 gene, c.997delC or p.R333Vfs*12 P53, causing a frame-shift and premature termination was identified. p53 protein is a transcription factor that binds to DNA as a tetramer. Each P53 monomer comprises a transactivation domain, a proline-rich domain, a central DNA-binding domain, an oligomerization domain, and a C-terminal domain. The truncated protein, p.R333Vfs*12 P53, was transiently expressed in COS-7 cells and studied for subcellular localization and immunoblotting. The results show that the truncated p.R333Vfs*12 P53 protein is appropriately localized into the nucleus. However,immunoblotting analysis suggested that the truncated p.R333Vfs*12 P53 protein would be unstable and degraded into nonfunctional lower molecular proteins. The predicted defects in oligomerization caused by loss of the C-terminus after residue 333, which is located within the tetramerization domain, may account for LFS in this family. Further study is needed to clarify the molecular explanation for oncogenic predisposition in this family. |
|
言語 |
en |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 書誌情報 |
ja : 秋田医学
en : Akita journal of medicine
巻 46,
号 3/4,
p. 91-98,
発行日 2020-03-30
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| 収録物識別子 |
|
|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0386-6106 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AN00009294 |
| 出版者 |
|
|
出版者 |
秋田医学会 |
|
言語 |
ja |
akitai46_3_4(21) (1.6 MB)
