論文 - 詳細
| RRC ID | 35176 |
|---|---|
| 著者 | Ebihara C, Ebihara K, Aizawa-Abe M, Mashimo T, Tomita T, Zhao M, Gumbilai V, Kusakabe T, Yamamoto Y, Aotani D, Yamamoto-Kataoka S, Sakai T, Hosoda K, Serikawa T, Nakao K. |
| タイトル | Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. |
| ジャーナル | Hum Mol Genet |
| Abstract |
Seipin, encoded by BSCL2 gene, is a protein whose physiological functions remain unclear. Mutations of BSCL2 cause the most-severe form of congenital generalized lipodystrophy (CGL). BSCL2 mRNA is highly expressed in the brain and testis in addition to the adipose tissue in human, suggesting physiological roles of seipin in non-adipose tissues. Since we found BSCL2 mRNA expression pattern among organs in rat is similar to human while it is not highly expressed in mouse brain, we generated a Bscl2/seipin knockout (SKO) rat using the method with ENU (N-ethyl-N-nitrosourea) mutagenesis. SKO rats showed total lack of white adipose tissues including mechanical fat such as bone marrow and retro-orbital fats, while physiologically functional brown adipose tissue was preserved. Besides the lipodystrophic phenotypes, SKO rats showed impairment of spatial working memory with brain weight reduction and infertility with azoospermia. We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis in addition to white adipose tissue development. |
| 巻・号 | 24(15) |
| ページ | 4238-49 |
| 公開日 | 2015-8-1 |
| DOI | 10.1093/hmg/ddv156 |
| PII | ddv156 |
| PMID | 25934999 |
| MeSH | Adipogenesis / genetics* Animals Brain / growth & development* Brain / metabolism GTP-Binding Protein gamma Subunits / biosynthesis GTP-Binding Protein gamma Subunits / genetics* Gene Expression Regulation, Developmental Gene Knockout Techniques Humans Male Mice RNA, Messenger / biosynthesis Rats Spermatogenesis / genetics* Spermatozoa / growth & development Spermatozoa / metabolism Testis / growth & development Testis / metabolism |
| IF | 5.101 |
| 引用数 | 22 |
| WOS 分野 | GENETICS & HEREDITY BIOCHEMISTRY & MOLECULAR BIOLOGY |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 最多言及媒体 | Wikipedia |
| 各媒体での言及数の合計 | 1 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| ラット | F344-Bscl2m1Kyo (SKO rat) |