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. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.
Luetjens CM, Xu EY, Rejo Pera RA, et al. (2004). "Association of meiotic arrest with lack of BOULE protein expression in infertile men.". J. Clin. Endocrinol. Metab.89 (4): 1926–33. doi:10.1210/jc.2003-031178. PMID15070965.
Lepretre AC, Patrat C, Jouannet P, Bienvenu T (2005). "Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population.". Int. J. Androl.27 (5): 301–3. doi:10.1111/j.1365-2605.2004.00464.x. PMID15379971.
Kostova E, Yeung CH, Luetjens CM, et al. (2007). "Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men.". Mol. Hum. Reprod.13 (2): 85–93. doi:10.1093/molehr/gal101. PMID17114206.