This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meioticG2 / M transition in fruitfly but in mice the primary defect is postmeiotic at round spermatid stage.[8] Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[7][9]
The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.[10]
Eberhart CG, Maines JZ, Wasserman SA (Jun 1996). "Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia". Nature. 381 (6585): 783–5. Bibcode:1996Natur.381..783E. doi:10.1038/381783a0. PMID8657280. S2CID4336163.
Kuo PL, Wang ST, Lin YM, Lin YH, Teng YN, Hsu CC (Apr 2004). "Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure". Fertility and Sterility. 81 (4): 1034–40. doi:10.1016/j.fertnstert.2003.08.047. PMID15066460.
Westerveld GH, Repping S, Leschot NJ, van der Veen F, Lombardi MP (Feb 2005). "Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis". Fertility and Sterility. 83 (2): 513–5. doi:10.1016/j.fertnstert.2004.10.013. PMID15705409.