BOLL

Bol, boule-like (Drosophila)
Identifiers
Symbols	BOLL ; BOULE
External IDs	Template:OMIM5 Template:MGI HomoloGene: 33650
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Bol, boule-like (Drosophila), also known as BOLL, is a human gene.

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. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Further reading

• Eberhart CG, Maines JZ, Wasserman SA (1996). "Meiotic cell cycle requirement for a fly homologue of human Deleted in Azoospermia". Nature. 381 (6585): 783–5. doi:10.1038/381783a0. PMID 8657280.CS1 maint: Multiple names: authors list (link)
• Xu EY, Moore FL, Pera RA (2001). "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7414–9. doi:10.1073/pnas.131090498. PMID 11390979.CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xu EY, Lee DF, Klebes A; et al. (2003). "Human BOULE gene rescues meiotic defects in infertile flies". Hum. Mol. Genet. 12 (2): 169–75. PMID 12499397.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Moore FL, Jaruzelska J, Fox MS; et al. (2003). "Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 538–43. doi:10.1073/pnas.0234478100. PMID 12511597.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kuo PL, Wang ST, Lin YM; et al. (2004). "Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure". Fertil. Steril. 81 (4): 1034–40. doi:10.1016/j.fertnstert.2003.08.047. PMID 15066460.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15070965.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15379971.CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Westerveld GH, Repping S, Leschot NJ; et al. (2005). "Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis". Fertil. Steril. 83 (2): 513–5. doi:10.1016/j.fertnstert.2004.10.013. PMID 15705409.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Collier B, Gorgoni B, Loveridge C; et al. (2005). "The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells". EMBO J. 24 (14): 2656–66. doi:10.1038/sj.emboj.7600738. PMID 16001084.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 17114206.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)