RGD Reference Report - Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. - Rat Genome Database

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Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.

Authors: 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 
Citation: Ebihara C, etal., Hum Mol Genet. 2015 Aug 1;24(15):4238-49. doi: 10.1093/hmg/ddv156. Epub 2015 May 1.
RGD ID: 11085488
Pubmed: PMID:25934999   (View Abstract at PubMed)
DOI: DOI:10.1093/hmg/ddv156   (Journal Full-text)

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.



Disease Annotations    
azoospermia  (IMP,ISO)
Insulin Resistance  (IMP,ISO)

Phenotype Annotations    
Objects Annotated

Genes (Rattus norvegicus)
Bscl2  (BSCL2 lipid droplet biogenesis associated, seipin)
Bscl2m1Kyo  (BSCL2, seipin lipid droplet biogenesis associated; ENU induced mutant1, Kyo)

Genes (Mus musculus)
Bscl2  (Berardinelli-Seip congenital lipodystrophy 2 (seipin))

Genes (Homo sapiens)
BSCL2  (BSCL2 lipid droplet biogenesis associated, seipin)

Strains
F344-Bscl2m1Kyo  (NA)


Additional Information