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{{other uses|Boll (disambiguation)}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Protein boule-like''' is a [[protein]] that in humans is encoded by the ''BOLL'' [[gene]].<ref name="pmid11390979">{{cite journal | vauthors = Xu EY, Moore FL, Pera RA | title = A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 98 | issue = 13 | pages = 7414–9 | date = Jun 2001 | pmid = 11390979 | pmc = 34683 | doi = 10.1073/pnas.131090498 }}</ref><ref name="pmid16001084">{{cite journal | vauthors = Collier B, Gorgoni B, Loveridge C, Cooke HJ, Gray NK | title = The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells | journal = The EMBO Journal | volume = 24 | issue = 14 | pages = 2656–66 | date = Jul 2005 | pmid = 16001084 | pmc = 1176464 | doi = 10.1038/sj.emboj.7600738 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BOLL bol, boule-like (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=66037| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Bol, boule-like (Drosophila)
| HGNCid = 14273
| Symbol = BOLL
| AltSymbols =; BOULE
| OMIM = 606165
| ECnumber = 
| Homologene = 33650
| MGIid = 1922638
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003676 |text = nucleic acid binding}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008494 |text = translation activator activity}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006417 |text = regulation of translation}} {{GNF_GO|id=GO:0007126 |text = meiosis}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007283 |text = spermatogenesis}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}} {{GNF_GO|id=GO:0045948 |text = positive regulation of translational initiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 66037
    | Hs_Ensembl = ENSG00000152430
    | Hs_RefseqProtein = NP_149019
    | Hs_RefseqmRNA = NM_033030
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 198299860
    | Hs_GenLoc_end = 198359183
    | Hs_Uniprot = Q8N9W6
    | Mm_EntrezGene = 75388
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = XM_985535
    | Mm_RefseqProtein = XP_990629
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Bol, boule-like (Drosophila)''', also known as '''BOLL''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BOLL bol, boule-like (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=66037| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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 [[DAZ1|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 [[meiosis|meiotic]] [[G2 phase|G<sub>2</sub>]] / [[mitosis|M]] transition in fruitfly but in mice the primary defect is postmeiotic at round spermatid stage.<ref>{{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 }}</ref> Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.<ref name="entrez"/><ref>{{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 }}</ref>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: BOLL bol, boule-like (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=66037| accessdate = }}</ref>
}}


==References==
The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive [[trichoplax]].<ref name="pmid20657660">{{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. }}</ref>
{{reflist|2}}
 
==Further reading==
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 }}
| citations =
* {{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 }}
*{{cite journal | author=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 |year= 1996 |pmid= 8657280 |doi= 10.1038/381783a0 }}
* {{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 }}
*{{cite journal | author=Xu EY, Moore FL, Pera RA |title=A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 13 |pages= 7414-9 |year= 2001 |pmid= 11390979 |doi= 10.1073/pnas.131090498 }}
* {{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 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{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 }}
*{{cite journal  | author=Xu EY, Lee DF, Klebes A, ''et al.'' |title=Human BOULE gene rescues meiotic defects in infertile flies. |journal=Hum. Mol. Genet. |volume=12 |issue= 2 |pages= 169-75 |year= 2003 |pmid= 12499397 |doi= }}
* {{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 }}
*{{cite journal | author=Moore FL, Jaruzelska J, Fox MS, ''et al.'' |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=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 2 |pages= 538-43 |year= 2003 |pmid= 12511597 |doi= 10.1073/pnas.0234478100 }}
* {{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 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* {{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 }}
*{{cite journal  | author=Kuo PL, Wang ST, Lin YM, ''et al.'' |title=Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure. |journal=Fertil. Steril. |volume=81 |issue= 4 |pages= 1034-40 |year= 2004 |pmid= 15066460 |doi= 10.1016/j.fertnstert.2003.08.047 }}
* {{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  }}
*{{cite journal | author=Luetjens CM, Xu EY, Rejo Pera RA, ''et al.'' |title=Association of meiotic arrest with lack of BOULE protein expression in infertile men. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 4 |pages= 1926-33 |year= 2004 |pmid= 15070965 |doi= }}
*{{cite journal | author=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=Int. J. Androl. |volume=27 |issue= 5 |pages= 301-3 |year= 2005 |pmid= 15379971 |doi= 10.1111/j.1365-2605.2004.00464.x }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Westerveld GH, Repping S, Leschot NJ, ''et al.'' |title=Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis. |journal=Fertil. Steril. |volume=83 |issue= 2 |pages= 513-5 |year= 2005 |pmid= 15705409 |doi= 10.1016/j.fertnstert.2004.10.013 }}
*{{cite journal | author=Collier B, Gorgoni B, Loveridge C, ''et al.'' |title=The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. |journal=EMBO J. |volume=24 |issue= 14 |pages= 2656-66 |year= 2005 |pmid= 16001084 |doi= 10.1038/sj.emboj.7600738 }}
*{{cite journal | author=Kostova E, Yeung CH, Luetjens CM, ''et al.'' |title=Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. |journal=Mol. Hum. Reprod. |volume=13 |issue= 2 |pages= 85-93 |year= 2007 |pmid= 17114206 |doi= 10.1093/molehr/gal101 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* {{UCSC gene info|BOLL}}
 
 
{{gene-2-stub}}

Latest revision as of 02:38, 30 August 2017

For other uses, see Boll (disambiguation).
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein boule-like is a protein that in humans is encoded by the BOLL gene.[1][2][3]

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.[4] Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[3][5]

The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.[6]

References

  1. ↑ 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. doi:10.1073/pnas.131090498. PMC 34683. PMID 11390979.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: BOLL bol, boule-like (Drosophila)".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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

External links


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