- BOLL
Bol, boule-like (Drosophila), also known as BOLL, is a human
gene .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 = ]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.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 = ]References
Further reading
PBB_Further_reading
citations =
*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 | 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 | 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 | 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 | 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 | 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 | 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 | 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/gal101PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
Wikimedia Foundation. 2010.