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.[4] Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[3][5]
The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.[6]
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. doi:10.1038/381783a0. PMID8657280.
Xu EY, Lee DF, Klebes A, Turek PJ, Kornberg TB, Reijo Pera RA (Jan 2003). "Human BOULE gene rescues meiotic defects in infertile flies". Human Molecular Genetics. 12 (2): 169–75. doi:10.1093/hmg/ddg017. PMID12499397.
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.
Luetjens CM, Xu EY, Rejo Pera RA, Kamischke A, Nieschlag E, Gromoll J (Apr 2004). "Association of meiotic arrest with lack of BOULE protein expression in infertile men". The Journal of Clinical Endocrinology and Metabolism. 89 (4): 1926–33. doi:10.1210/jc.2003-031178. PMID15070965.
Lepretre AC, Patrat C, Jouannet P, Bienvenu T (Oct 2004). "Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population". International Journal of Andrology. 27 (5): 301–3. doi:10.1111/j.1365-2605.2004.00464.x. PMID15379971.
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.
Kostova E, Yeung CH, Luetjens CM, Brune M, Nieschlag E, Gromoll J (Feb 2007). "Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men". Molecular Human Reproduction. 13 (2): 85–93. doi:10.1093/molehr/gal101. PMID17114206.
