| BOLL | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BOLL, BOULE, boule homolog, RNA binding protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606165 MGI: 1922638 HomoloGene: 33650 GeneCards: BOLL | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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 2 3 GRCh38: Ensembl release 89: ENSG00000152430 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025977 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ 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.
- ↑ 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.
- 1 2 "Entrez Gene: BOLL bol, boule-like (Drosophila)".
- ↑ 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.
- ↑ 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.
- ↑ 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.
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