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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
BSCL2Humanazoospermia  ISORGD:1308135 RGD 
Bscl2Ratazoospermia  IMP  RGD 
Bscl2Mouseazoospermia  ISORGD:1308135 RGD 
Bscl2m1KyoRatazoospermia  IMP  RGD 
F344-Bscl2m1KyoRatazoospermia  IMP  RGD 
BSCL2HumanInsulin Resistance  ISORGD:1308135 RGD 
Bscl2RatInsulin Resistance  IMP  RGD 
Bscl2MouseInsulin Resistance  ISORGD:1308135 RGD 
Bscl2m1KyoRatInsulin Resistance  IMP  RGD 
F344-Bscl2m1KyoRatInsulin Resistance  IMP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Bscl2Ratabnormal spatial working memory  IMP  RGD 
Bscl2m1KyoRatabnormal spatial working memory  IMP  RGD 
F344-Bscl2m1KyoRatabnormal spatial working memory  IMP  RGD 
Bscl2Ratdecreased body weight  IMP  RGD 
Bscl2m1KyoRatdecreased body weight  IMP  RGD 
F344-Bscl2m1KyoRatdecreased body weight  IMP  RGD 
Bscl2Ratdecreased brain weight  IMP  RGD 
Bscl2m1KyoRatdecreased brain weight  IMP  RGD 
F344-Bscl2m1KyoRatdecreased brain weight  IMP  RGD 
Bscl2Ratdecreased circulating leptin level  IMP  RGD 
Bscl2m1KyoRatdecreased circulating leptin level  IMP  RGD 
F344-Bscl2m1KyoRatdecreased circulating leptin level  IMP  RGD 
Bscl2Ratdecreased testis weight  IMP  RGD 
Bscl2m1KyoRatdecreased testis weight  IMP  RGD 
F344-Bscl2m1KyoRatdecreased testis weight  IMP  RGD 
Bscl2Ratdecreased white adipose tissue amount  IMP  RGD 
Bscl2m1KyoRatdecreased white adipose tissue amount  IMP  RGD 
F344-Bscl2m1KyoRatdecreased white adipose tissue amount  IMP  RGD 
Bscl2Ratincreased circulating cholesterol level  IMP  RGD 
Bscl2m1KyoRatincreased circulating cholesterol level  IMP  RGD 
F344-Bscl2m1KyoRatincreased circulating cholesterol level  IMP  RGD 
Bscl2Ratincreased circulating insulin level  IMP  RGD 
Bscl2m1KyoRatincreased circulating insulin level  IMP  RGD 
F344-Bscl2m1KyoRatincreased circulating insulin level  IMP  RGD 
Bscl2Ratincreased circulating triglyceride level  IMP  RGD 
Bscl2m1KyoRatincreased circulating triglyceride level  IMP  RGD 
F344-Bscl2m1KyoRatincreased circulating triglyceride level  IMP  RGD 
Bscl2Ratincreased lean body mass  IMP  RGD 
Bscl2m1KyoRatincreased lean body mass  IMP  RGD 
F344-Bscl2m1KyoRatincreased lean body mass  IMP  RGD 
Bscl2Ratincreased liver triglyceride level  IMP  RGD 
Bscl2m1KyoRatincreased liver triglyceride level  IMP  RGD 
F344-Bscl2m1KyoRatincreased liver triglyceride level  IMP  RGD 
Bscl2Ratincreased liver weight  IMP  RGD 
Bscl2m1KyoRatincreased liver weight  IMP  RGD 
F344-Bscl2m1KyoRatincreased liver weight  IMP  RGD 
Bscl2Ratincreased oxygen consumption  IMP  RGD 
Bscl2m1KyoRatincreased oxygen consumption  IMP  RGD 
F344-Bscl2m1KyoRatincreased oxygen consumption  IMP  RGD 
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  (BSCL2 lipid droplet biogenesis associated, seipin)

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

Strains
F344-Bscl2m1Kyo  (NA)


Additional Information