BOLL

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Boule-like RNA-binding protein
Identifiers
Symbols BOLL ; BOULE
External IDs OMIM606165 MGI1922638 HomoloGene33650 GeneCards: BOLL Gene
Orthologs
Species Human Mouse
Entrez 66037 75388
Ensembl ENSG00000152430 ENSMUSG00000025977
UniProt Q8N9W6 Q924M5
RefSeq (mRNA) NM_001284358 NM_001113367
RefSeq (protein) NP_001271287 NP_001106838
Location (UCSC) Chr 2:
198.59 – 198.65 Mb
Chr 1:
55.25 – 55.36 Mb
PubMed search [1] [2]

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

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. 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]

References[edit]

  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". Proc Natl Acad Sci U S A 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". EMBO J 24 (14): 2656–66. doi:10.1038/sj.emboj.7600738. PMC 1176464. PMID 16001084. 
  3. ^ a b "Entrez Gene: BOLL bol, boule-like (Drosophila)". 
  4. ^ 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. 

Further reading[edit]