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The Berardinelli–Seip congenital lipodystrophy type 2 ( Bscl2 , seipin) gene is involved in adipogenesis.  Bscl2  −/−  males were infertile but had normal mating behavior. Both  Bscl2  −/−  cauda epididymis sperm count and sperm motility were ~20 × less than control.  Bscl2  −/−  seminiferous tubules had relatively normal presence of spermatogonia and spermatocytes but had reduced spermatids and sperm. Spatiotemporal expression analyses in  Bscl2  +/+  testes demonstrated prominent  Bscl2  transcriptional activity in spermatocytes with a plateau reached around postnatal day 28. Seipin protein localization was most abundant in postmeiotic spermatids, suggesting translational repression of  Bscl2  mRNA in spermatocytes.  In situ  end-labeling plus detected increased spermatid apoptosis in  Bscl2  −/−  testis and annexin V detected increased percentage of positive  Bscl2  −/−  round spermatids compared with control. Immunofluorescence of marker proteins synaptonemal complex proteins 3 and 1 (SYCP3 and SYCP1), and H3K9me3 (histone H3 trimethylated at lysine 9) in germ cell spreads detected normal meiotic chromosome pairing and homologous chromosome synapsis in  Bscl2  −/−  spermatocytes, but significantly increased percentages of round spermatids with chromocenter fragmentation and late spermatids and sperm with chromatin vacuoles, indicating defective chromatin condensation in  Bscl2  −/−  spermatids.  Bscl2  −/−  late spermatids were disorganized within the seminiferous epithelium, despite normal appearance of Sertoli cells detected by vimentin immunofluorescence. Peanut agglutinin staining revealed various abnormalities of acrosomes in  Bscl2  −/−  late spermatids, including the absence, irregular-shaped, and fragmented acrosomes, indicating defective acrosome formation in  Bscl2  −/−  late spermatids, which may affect late spermatid orientation in the seminiferous epithelium. Mitotracker strongly stained the midpiece of control sperm but only very weakly labeled the midpiece of  Bscl2  −/−  sperm, indicating defective mitochondrial activity that most likely contributed to reduced  Bscl2  −/−  sperm motility. These data demonstrate novel roles of seipin in spermatid chromatin integrity, acrosome formation, and mitochondrial activity. Increased spermatid apoptosis, increased chromocenter fragmentation, defective chromatin condensation, abnormal acrosome formation, and defective mitochondrial activity contributed to decreased sperm production and defective sperm that resulted in  Bscl2  −/−  male infertility.

Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility