| Literature DB >> 25934999 |
Chihiro Ebihara1, Ken Ebihara2, Megumi Aizawa-Abe3, Tomoji Mashimo4, Tsutomu Tomita1, Mingming Zhao1, Valentino Gumbilai1, Toru Kusakabe5, Yuji Yamamoto1, Daisuke Aotani5, Sachiko Yamamoto-Kataoka1, Takeru Sakai1, Kiminori Hosoda6, Tadao Serikawa4, Kazuwa Nakao5.
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.Entities:
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Year: 2015 PMID： 25934999 DOI： 10.1093/hmg/ddv156
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150