Alternative titles; symbols
HGNC Approved Gene Symbol: BPY2
Cytogenetic location: Yq11.223 Genomic coordinates (GRCh38) : Y:22,984,263-23,005,465 (from NCBI)
Lahn and Page (1997) isolated testis cDNAs corresponding to BPY2 and other genes located in the nonrecombining portion of the Y chromosome (NRY; see 400010). The predicted 106-amino acid BPY2 protein has a calculated pI of 10.0. It is unrelated to BPY1 (400012). The authors noted that BPY1 and BPY2 are 2 of 7 novel genes that appear to exist in multiple copies on the Y chromosome and are expressed specifically in testis. They speculated that the selective advantage conferred by the NRY's retention and amplification of male fertility factors accounts for the multitude of testis-specific gene families there.
Using Western blot analysis, Tse et al. (2003) detected VCY2 at an apparent molecular mass of 14 kD in normal testicular biopsy specimens. Immunohistochemical analysis showed that VCY2 localized to the nuclei of spermatogonia, spermatocytes, and round spermatids, but not elongated spermatids. Immunoelectron microscopy showed that VCY2 localized to nuclei of ejaculated human spermatozoa.
Wong et al. (2002) stated that the BPY2 gene contains 8 exons, with the initiating ATG codon in exon 4.
By analysis of a panel of partial Y chromosomes, Lahn and Page (1997) mapped the BPY2 gene to region 6E on the long arm of the human Y chromosome.
Using immunohistochemical analysis, Tse et al. (2003) found weak expression of VCY2 in spermatogonia, but no expression in spermatocytes and spermatids, in human testicular biopsy specimens with maturation arrest or hypospermatogenesis.
Using a yeast 2-hybrid approach, Wong et al. (2002) showed that VCY2 interacted with the HECT domain of the ubiquitin protein ligase UBE3A (601623). The specificity of the interaction was confirmed by coimmunoprecipitation.
Wong et al. (2002) stated that the VCY2 gene is located in the AZFc region of chromosome Yq and is frequently deleted in infertile men with severe oligozoospermia or azoospermia (see 415000).
Repping et al. (2004) identified the b2/b3 deletion within the AZFc region of the Y chromosome, in which 1 of the 3 copies of the BPY2 gene is deleted. The b2/b3 deletion has no obvious effect on fitness.
Lahn, B. T., Page, D. C. Functional coherence of the human Y chromosome. Science 278: 675-680, 1997. [PubMed: 9381176] [Full Text: https://doi.org/10.1126/science.278.5338.675]
Repping, S., van Daalen, S. K. M., Korver, C. M., Brown, L. G., Marszalek, J. D., Gianotten, J., Oates, R. D., Silber, S., van der Veen, F., Page, D. C., Rozen, S. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 83: 1046-1052, 2004. [PubMed: 15177557] [Full Text: https://doi.org/10.1016/j.ygeno.2003.12.018]
Tse, J. Y. M., Wong, E. Y. M., Cheung, A. N. Y., O, W. S., Tam, P. C., Yeung, W. S. B. Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility. Biol. Reprod. 69: 746-751, 2003. [PubMed: 12724276] [Full Text: https://doi.org/10.1095/biolreprod.103.015792]
Wong, E. Y. M., Tse, J. Y. M., Yao, K.-M., Tam, P.-C., Yeung, W. S. B. VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A. Biochem. Biophys. Res. Commun. 296: 1104-1111, 2002. [PubMed: 12207887] [Full Text: https://doi.org/10.1016/s0006-291x(02)02040-5]