BOLL

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.[7] Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[6][8]

The boule-like protein appears to be ubiquitously expressed in males of all animal species, except in the most primitive trichoplax.[9]

gollark: You mean the copyright directive thing or something else?
gollark: For national security reasons.
gollark: That's normal, ROM is camouflaged.
gollark: You mean "no output"?
gollark: Try it again.

References
  1. GRCh38: Ensembl release 89: ENSG00000152430 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 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.
  5. 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.
  6. "Entrez Gene: BOLL bol, boule-like (Drosophila)".
  7. 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.
  8. 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.
  9. 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


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