BOLL

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BOLL
Identifiers
Aliases BOLL, BOULE, boule homolog, RNA binding protein
External IDs MGI: 1922638 HomoloGene: 33650 GeneCards: BOLL
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for BOLL
Genomic location for BOLL
Band 2q33.1 Start 197,726,879 bp[1]
End 197,786,762 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001284358
NM_001284361
NM_001284362
NM_033030
NM_197970

NM_001113367
NM_029267

RefSeq (protein)

NP_001271287
NP_001271290
NP_001271291
NP_149019
NP_932074

NP_001106838
NP_083543

Location (UCSC) Chr 2: 197.73 – 197.79 Mb Chr 1: 55.25 – 55.36 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein boule-like is a protein that in humans is encoded by the BOLL gene.[5][6][7]

Function[edit]

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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152430 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025977 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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 34683Freely accessible. PMID 11390979. 
  6. ^ 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 1176464Freely accessible. PMID 16001084. 
  7. ^ a b "Entrez Gene: BOLL bol, boule-like (Drosophila)". 
  8. ^ 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 2876882Freely accessible. PMID 20335278. 
  9. ^ 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 2904765Freely accessible. PMID 20657660. 
  10. ^ 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 2904765Freely accessible. PMID 20657660. 

Further reading[edit]

External links[edit]