BOLL
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| Bol, boule-like (Drosophila) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | BOLL; BOULE | ||||||||||||
| External IDs | OMIM: 606165 MGI: 1922638 HomoloGene: 33650 GeneCards: BOLL Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 66037 | 75388 | |||||||||||
| Ensembl | ENSG00000152430 | ENSMUSG00000025977 | |||||||||||
| UniProt | Q8N9W6 | Q924M5 | |||||||||||
| RefSeq (mRNA) | NM_033030.5 | NM_029267.3 | |||||||||||
| RefSeq (protein) | NP_149019.1 | NP_083543.2 | |||||||||||
| Location (UCSC) | Chr 2: 198.59 – 198.65 Mb |
Chr 1: 55.31 – 55.42 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Protein boule-like is a protein that in humans is encoded by the BOLL gene.[1][2][3]
[edit] 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. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[3]
The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.[4]
[edit] References
- ^ 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". Proc Natl Acad Sci U S A 98 (13): 7414–9. doi:10.1073/pnas.131090498. PMC 34683. PMID 11390979. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=34683.
- ^ 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". EMBO J 24 (14): 2656–66. doi:10.1038/sj.emboj.7600738. PMC 1176464. PMID 16001084. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1176464.
- ^ a b "Entrez Gene: BOLL bol, boule-like (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=66037.
- ^ Shah C, Vangompel MJ, Naeem V, Chen Y, Lee T, Angeloni N, Wang Y, Xu EY (2010). Swalla, Billie J.. ed. "Widespread Presence of Human BOULE Homologs among Animals and Conservation of Their Ancient Reproductive Function". PLoS Genet. 6 (7): e1001022. doi:10.1371/journal.pgen.1001022. PMC 2904765. PMID 20657660. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2904765.
[edit] 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.
- 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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. doi:10.1093/hmg/ddg017. PMID 12499397.
- 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. PMC 141031. PMID 12511597. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=141031.
- 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.
- 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.
- 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. doi:10.1210/jc.2003-031178. PMID 15070965.
- 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.
- 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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.
- 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.
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