BOLL explained

Protein boule-like is a protein that in humans is encoded by the BOLL gene.^{[1] [2] [3]}

Function

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 meiotic G₂ / 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]

Further reading

• Eberhart CG, Maines JZ, Wasserman SA . Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia . Nature . 381 . 6585 . 783–5 . Jun 1996 . 8657280 . 10.1038/381783a0 . 1996Natur.381..783E . 4336163 .
• Xu EY, Lee DF, Klebes A, Turek PJ, Kornberg TB, Reijo Pera RA . Human BOULE gene rescues meiotic defects in infertile flies . Human Molecular Genetics . 12 . 2 . 169–75 . Jan 2003 . 12499397 . 10.1093/hmg/ddg017 . free .
• Moore FL, Jaruzelska J, Fox MS, Urano J, Firpo MT, Turek PJ, Dorfman DM, Pera RA . Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins . Proceedings of the National Academy of Sciences of the United States of America . 100 . 2 . 538–43 . Jan 2003 . 12511597 . 141031 . 10.1073/pnas.0234478100 . 2003PNAS..100..538M . free .
• Kuo PL, Wang ST, Lin YM, Lin YH, Teng YN, Hsu CC . Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure . Fertility and Sterility . 81 . 4 . 1034–40 . Apr 2004 . 15066460 . 10.1016/j.fertnstert.2003.08.047 . free .
• Luetjens CM, Xu EY, Rejo Pera RA, Kamischke A, Nieschlag E, Gromoll J . Association of meiotic arrest with lack of BOULE protein expression in infertile men . The Journal of Clinical Endocrinology and Metabolism . 89 . 4 . 1926–33 . Apr 2004 . 15070965 . 10.1210/jc.2003-031178 . free .
• Lepretre AC, Patrat C, Jouannet P, Bienvenu T . 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 . Oct 2004 . 15379971 . 10.1111/j.1365-2605.2004.00464.x . free .
• Westerveld GH, Repping S, Leschot NJ, van der Veen F, Lombardi MP . Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis . Fertility and Sterility . 83 . 2 . 513–5 . Feb 2005 . 15705409 . 10.1016/j.fertnstert.2004.10.013 . free .
• Kostova E, Yeung CH, Luetjens CM, Brune M, Nieschlag E, Gromoll J . Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men . Molecular Human Reproduction . 13 . 2 . 85–93 . Feb 2007 . 17114206 . 10.1093/molehr/gal101 . free .
• Vangompel MJ, Xu EY . The roles of the DAZ family in spermatogenesis: More than just translation? . Spermatogenesis . 1 . 1 . 36–46 . Jan 2011 . 22523742 . 3329454 . 10.4161/spmg.1.1.14659 .

Notes and References

1. Xu EY, Moore FL, Pera RA . A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans . Proceedings of the National Academy of Sciences of the United States of America . 98 . 13 . 7414–9 . Jun 2001 . 11390979 . 34683 . 10.1073/pnas.131090498 . 2001PNAS...98.7414Y . free .
2. Collier B, Gorgoni B, Loveridge C, Cooke HJ, Gray NK . The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells . The EMBO Journal . 24 . 14 . 2656–66 . Jul 2005 . 16001084 . 1176464 . 10.1038/sj.emboj.7600738 .
3. Web site: Entrez Gene: BOLL bol, boule-like (Drosophila).
4. VanGompel MJ, Xu EY . A novel requirement in mammalian spermatid differentiation for the DAZ-family protein Boule . Human Molecular Genetics . 19 . 12 . 2360–9 . Jun 2010 . 20335278 . 2876882 . 10.1093/hmg/ddq109 .
5. Shah C, Vangompel MJ, Naeem V, Chen Y, Lee T, Angeloni N, Wang Y, Xu EY . Widespread presence of human BOULE homologs among animals and conservation of their ancient reproductive function . PLOS Genetics . 6 . 7 . e1001022 . Jul 2010 . 20657660 . 2904765 . 10.1371/journal.pgen.1001022 . free .
6. Shah C, Vangompel MJ, Naeem V, Chen Y, Lee T, Angeloni N, Wang Y, Xu EY . Widespread presence of human BOULE homologs among animals and conservation of their ancient reproductive function . PLOS Genetics . 6 . 7 . e1001022 . Jul 2010 . 20657660 . 2904765 . 10.1371/journal.pgen.1001022 . Swalla . Billie J. . free .