BOLL

For other uses, see Boll (disambiguation).

BOLL
Identifiers
Aliases	BOLL , BOULE, boule homolog, RNA binding protein
External IDs	OMIM: 606165; MGI: 1922638; HomoloGene: 33650; GeneCards: BOLL; OMA:BOLL - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q33.1 Start 197,726,879 bp [1] End 197,786,762 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 C1.2 Start 55,287,817 bp [2] End 55,402,628 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis sperm buccal mucosa cell testicle muscle of thigh tibialis anterior muscle gonad gastrocnemius muscle skeletal muscle tissue Top expressed in spermatocyte spermatid seminiferous tubule lumbar subsegment of spinal cord embryo embryo ganglion of neuraxis granulocyte morula thymus More reference expression data BioGPS n/a
Gene ontology Molecular function translation activator activity protein binding RNA binding nucleic acid binding mRNA 3'-UTR binding mRNA binding Cellular component cytoplasm Biological process multicellular organism development cell differentiation positive regulation of translational initiation regulation of translation spermatogenesis meiosis 3'-UTR-mediated mRNA stabilization germ cell development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 66037 75388 Ensembl ENSG00000152430 ENSMUSG00000025977 UniProt Q8N9W6 Q924M5 RefSeq (mRNA) NM_001284358 NM_001284361 NM_001284362 NM_033030 NM_197970 NM_001113367 NM_029267 NM_001367887 NM_001368767 NM_001368768 RefSeq (protein) NP_001271287 NP_001271290 NP_001271291 NP_149019 NP_932074 NP_001106838 NP_083543 NP_001354816 NP_001355696 NP_001355697 Location (UCSC) Chr 2: 197.73 – 197.79 Mb Chr 1: 55.29 – 55.4 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein boule-like is a protein that in humans is encoded by the BOLL gene. ^{[5] [6] [7]}

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. ^[8] Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. ^{[7] [9]}

The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000152430 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025977 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Xu EY, Moore FL, Pera RA (Jun 2001). "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. Bibcode:2001PNAS...98.7414Y. doi: 10.1073/pnas.131090498 . PMC   34683 . PMID   11390979.
6. Collier B, Gorgoni B, Loveridge C, Cooke HJ, Gray NK (Jul 2005). "The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells". The EMBO Journal. 24 (14): 2656–66. doi:10.1038/sj.emboj.7600738. PMC   1176464 . PMID   16001084.
7. "Entrez Gene: BOLL bol, boule-like (Drosophila)".
8. VanGompel MJ, Xu EY (Jun 2010). "A novel requirement in mammalian spermatid differentiation for the DAZ-family protein Boule". Human Molecular Genetics. 19 (12): 2360–9. doi:10.1093/hmg/ddq109. PMC   2876882 . PMID   20335278.
9. Shah C, Vangompel MJ, Naeem V, Chen Y, Lee T, Angeloni N, Wang Y, Xu EY (Jul 2010). "Widespread presence of human BOULE homologs among animals and conservation of their ancient reproductive function". PLOS Genetics. 6 (7): e1001022. doi: 10.1371/journal.pgen.1001022 . PMC   2904765 . PMID   20657660.
10. Shah C, Vangompel MJ, Naeem V, Chen Y, Lee T, Angeloni N, Wang Y, Xu EY (Jul 2010). Swalla BJ (ed.). "Widespread presence of human BOULE homologs among animals and conservation of their ancient reproductive function". PLOS Genetics. 6 (7): e1001022. doi: 10.1371/journal.pgen.1001022 . PMC   2904765 . PMID   20657660.

Further reading

• 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. Bibcode:1996Natur.381..783E. doi:10.1038/381783a0. PMID   8657280. S2CID   4336163.
• 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 . PMID   12499397.
• Moore FL, Jaruzelska J, Fox MS, Urano J, Firpo MT, Turek PJ, Dorfman DM, Pera RA (Jan 2003). "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. Bibcode:2003PNAS..100..538M. doi: 10.1073/pnas.0234478100 . PMC   141031 . PMID   12511597.
• 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 . PMID   15066460.
• 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 . PMID   15070965.
• 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 . PMID   15379971.
• 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 . PMID   15705409.
• 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 . PMID   17114206.
• Vangompel MJ, Xu EY (Jan 2011). "The roles of the DAZ family in spermatogenesis: More than just translation?". Spermatogenesis. 1 (1): 36–46. doi:10.4161/spmg.1.1.14659. PMC   3329454 . PMID   22523742.

External links

• Human BOLL genome location and BOLL gene details page in the UCSC Genome Browser .