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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
Gene Review

BPY2B  -  basic charge, Y-linked, 2B

Homo sapiens

Synonyms: VCY2B
 
 
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Disease relevance of BPY2B

  • VCY2 locates in the AZFc region on chromosome Yq and is frequently deleted in infertile men with severe oligozoospermia or azoospermia [1].
  • The impaired expression of VCY2 in infertile men suggests its involvement in the pathogenesis of male infertility [2].
 

High impact information on BPY2B

  • The specific localization of the protein in germ cell nuclei indicates that VCY2 is likely to function in male germ cell development [2].
  • VCY2 was weakly expressed at the spermatogonia and immunonegative in spermatocytes and round spermatids in testicular biopsy specimens with maturation arrest or hypospermatogenesis [2].
  • At the ultrastructural level, VCY2 expression was found in the nucleus of human ejaculated spermatozoa [2].
  • We have raised an antiserum to VCY2 and used it to characterize the localization of VCY2 in human testis [2].
  • Using Western blot analysis, the affinity-purified polyclonal VCY2 antibody gave a single specific band of approximately 14 kDa in size, corresponding to the expected size of VCY2 in all the collected human testicular biopsy specimens with normal spermatogenesis [2].
 

Biological context of BPY2B

  • We used the full-length VCY2 as bait to screen the human testis cDNA library using yeast two-hybrid approach [1].
  • Analysis of the genomic structure demonstrated that the VCY2 gene is composed of 9 exons spanning 21 kb [3].
  • FISH analysis on interphase nuclei with specific probes for exons 4-6, 7, and 8 demonstrated the presence of a single gene copy, and Fiber-FISH on relaxed chromatin indicated that VCY2 is located within the DAZ gene cluster [3].
 

Anatomical context of BPY2B

  • We also showed that both VCY2 and UBE3A mRNAs were expressed in ejaculated human spermatozoa, indicating that both genes localize in the germ cell compartment [1].

References

  1. VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A. Wong, E.Y., Tse, J.Y., Yao, K.M., Tam, P.C., Yeung, W.S. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  2. Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility. Tse, J.Y., Wong, E.Y., Cheung, A.N., O, W.S., Tam, P.C., Yeung, W.S. Biol. Reprod. (2003) [Pubmed]
  3. Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene. Stuppia, L., Gatta, V., Fogh, I., Gaspari, A.R., Morizio, E., Mingarelli, R., Di Santo, M., Pizzuti, A., Calabrese, G., Palka, G. Genomics (2001) [Pubmed]
 
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