BOLL

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.{{cite journal | vauthors = VanGompel MJ, Xu EY | title = A novel requirement in mammalian spermatid differentiation for the DAZ-family protein Boule | journal = Human Molecular Genetics | volume = 19 | issue = 12 | pages = 2360–9 | date = Jun 2010 | pmid = 20335278 | pmc = 2876882 | doi = 10.1093/hmg/ddq109 }} Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.{{cite journal | vauthors = Shah C, Vangompel MJ, Naeem V, Chen Y, Lee T, Angeloni N, Wang Y, Xu EY | title = Widespread presence of human BOULE homologs among animals and conservation of their ancient reproductive function | journal = PLOS Genetics | volume = 6 | issue = 7 | pages = e1001022 | date = Jul 2010 | pmid = 20657660 | pmc = 2904765 | doi = 10.1371/journal.pgen.1001022 | doi-access = free }}

The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.{{cite journal | vauthors = Shah C, Vangompel MJ, Naeem V, Chen Y, Lee T, Angeloni N, Wang Y, Xu EY | title = Widespread presence of human BOULE homologs among animals and conservation of their ancient reproductive function | journal = PLOS Genetics | volume = 6 | issue = 7 | pages = e1001022 | date = Jul 2010 | pmid = 20657660 | pmc = 2904765 | doi = 10.1371/journal.pgen.1001022 | editor1-last = Swalla | editor1-first = Billie J. | doi-access = free }}

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• {{cite journal | vauthors = Eberhart CG, Maines JZ, Wasserman SA | title = Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia | journal = Nature | volume = 381 | issue = 6585 | pages = 783–5 | date = Jun 1996 | pmid = 8657280 | doi = 10.1038/381783a0 | bibcode = 1996Natur.381..783E | s2cid = 4336163 }}
• {{cite journal | vauthors = Xu EY, Lee DF, Klebes A, Turek PJ, Kornberg TB, Reijo Pera RA | title = Human BOULE gene rescues meiotic defects in infertile flies | journal = Human Molecular Genetics | volume = 12 | issue = 2 | pages = 169–75 | date = Jan 2003 | pmid = 12499397 | doi = 10.1093/hmg/ddg017 | doi-access = free }}
• {{cite journal | vauthors = Moore FL, Jaruzelska J, Fox MS, Urano J, Firpo MT, Turek PJ, Dorfman DM, Pera RA | title = Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 100 | issue = 2 | pages = 538–43 | date = Jan 2003 | pmid = 12511597 | pmc = 141031 | doi = 10.1073/pnas.0234478100 | bibcode = 2003PNAS..100..538M | doi-access = free }}
• {{cite journal | vauthors = Kuo PL, Wang ST, Lin YM, Lin YH, Teng YN, Hsu CC | title = Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure | journal = Fertility and Sterility | volume = 81 | issue = 4 | pages = 1034–40 | date = Apr 2004 | pmid = 15066460 | doi = 10.1016/j.fertnstert.2003.08.047 | doi-access = free }}
• {{cite journal | vauthors = Luetjens CM, Xu EY, Rejo Pera RA, Kamischke A, Nieschlag E, Gromoll J | title = Association of meiotic arrest with lack of BOULE protein expression in infertile men | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 89 | issue = 4 | pages = 1926–33 | date = Apr 2004 | pmid = 15070965 | doi = 10.1210/jc.2003-031178 | doi-access = free }}
• {{cite journal | vauthors = Lepretre AC, Patrat C, Jouannet P, Bienvenu T | title = Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population | journal = International Journal of Andrology | volume = 27 | issue = 5 | pages = 301–3 | date = Oct 2004 | pmid = 15379971 | doi = 10.1111/j.1365-2605.2004.00464.x | doi-access = free }}
• {{cite journal | vauthors = Westerveld GH, Repping S, Leschot NJ, van der Veen F, Lombardi MP | title = Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis | journal = Fertility and Sterility | volume = 83 | issue = 2 | pages = 513–5 | date = Feb 2005 | pmid = 15705409 | doi = 10.1016/j.fertnstert.2004.10.013 | doi-access = free }}
• {{cite journal | vauthors = Kostova E, Yeung CH, Luetjens CM, Brune M, Nieschlag E, Gromoll J | title = Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men | journal = Molecular Human Reproduction | volume = 13 | issue = 2 | pages = 85–93 | date = Feb 2007 | pmid = 17114206 | doi = 10.1093/molehr/gal101 | doi-access = free }}
• {{cite journal | vauthors = Vangompel MJ, Xu EY | title = The roles of the DAZ family in spermatogenesis: More than just translation? | journal = Spermatogenesis | volume = 1 | issue = 1 | pages = 36–46 | date = Jan 2011 | pmid = 22523742 | pmc = 3329454 | doi = 10.4161/spmg.1.1.14659 }}

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• {{UCSC gene info|BOLL}}

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