Biology:DBN1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Drebrin is a protein that in humans is encoded by the DBN1 gene.[1][2]
The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene.[2]
Model organisms
Model organisms have been used in the study of DBN1 function. A conditional knockout mouse line called Dbn1tm1b(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping[9]
| Characteristic | Phenotype |
|---|---|
| All data available at.[4][9] | |
| Peripheral blood leukocytes 6 Weeks | Normal |
| Haematology 6 Weeks | Normal |
| Homozygous viability at P14 | Abnormal |
| Recessive lethal study | Normal |
| Body weight | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Haematology 16 Weeks | Normal |
| Peripheral blood leukocytes 16 Weeks | Normal |
| Heart weight | Normal |
| Salmonella infection | Normal |
| Cytotoxic T Cell Function | Normal |
| Spleen Immunophenotyping | Normal |
| Mesenteric Lymph Node Immunophenotyping | Normal |
| Bone Marrow Immunophenotyping | Normal |
| Epidermal Immune Composition | Normal |
| Trichuris Challenge | Normal |
References
- ↑ "Molecular cloning of cDNA encoding human drebrin E and chromosomal mapping of its gene". Biochem Biophys Res Commun 196 (1): 468–72. Nov 1993. doi:10.1006/bbrc.1993.2273. PMID 8216329.
- ↑ 2.0 2.1 "Entrez Gene: DBN1 drebrin 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1627.
- ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
- ↑ 4.0 4.1 "International Mouse Phenotyping Consortium". http://www.mousephenotype.org/data/search?q=Dbn1#fq=*:*&facet=gene.
- ↑ "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. Jun 2011. doi:10.1038/nature10163. PMID 21677750.
- ↑ "Mouse library set to be knockout". Nature 474 (7351): 262–3. Jun 2011. doi:10.1038/474262a. PMID 21677718.
- ↑ "A mouse for all reasons". Cell 128 (1): 9–13. Jan 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. 2013. doi:10.1016/j.cell.2013.06.022. PMID 23870131.
- ↑ 9.0 9.1 "Infection and Immunity Immunophenotyping (3i) Consortium". http://www.immunophenotyping.org/data/search?keys=Dbn1&field_gene_construct_tid=All.
Further reading
- Shirao T (1995). "The roles of microfilament-associated proteins, drebrins, in brain morphogenesis: a review". J. Biochem. 117 (2): 231–6. doi:10.1093/jb/117.2.231. PMID 7608104.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Disappearance of actin-binding protein, drebrin, from hippocampal synapses in Alzheimer's disease". J. Neurosci. Res. 43 (1): 87–92. 1996. doi:10.1002/jnr.490430111. PMID 8838578.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Interactions of drebrin and gephyrin with profilin". Biochem. Biophys. Res. Commun. 243 (1): 86–9. 1998. doi:10.1006/bbrc.1997.8068. PMID 9473484.
- "Domain analysis of the actin-binding and actin-remodeling activities of drebrin". Exp. Cell Res. 253 (2): 673–80. 2000. doi:10.1006/excr.1999.4663. PMID 10585290.
- "Drebrin is a widespread actin-associating protein enriched at junctional plaques, defining a specific microfilament anchorage system in polar epithelial cells". Eur. J. Cell Biol. 78 (11): 767–78. 2000. doi:10.1016/s0171-9335(99)80027-2. PMID 10604653.
- "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. 2001. doi:10.1101/gr.GR1547R. PMID 11230166.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. 2001. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "Drebrin expression is increased in spinal motoneurons of rats after axotomy". Neurosci. Lett. 311 (3): 165–8. 2001. doi:10.1016/S0304-3940(01)02155-3. PMID 11578820.
- "Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome". Neurosci. Lett. 324 (3): 209–12. 2002. doi:10.1016/S0304-3940(02)00210-0. PMID 12009525.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. 2004. doi:10.1038/nbt810. PMID 12665801.
- "Coincidence in dendritic clustering and synaptic targeting of homer proteins and NMDA receptor complex proteins NR2B and PSD95 during development of cultured hippocampal neurons". Mol. Cell. Neurosci. 22 (2): 188–201. 2003. doi:10.1016/S1044-7431(03)00037-X. PMID 12676529.
- "Cell biological and biochemical characterization of drebrin complexes in mesangial cells and podocytes of renal glomeruli". J. Am. Soc. Nephrol. 14 (6): 1452–63. 2003. doi:10.1097/01.ASN.0000069222.63700.DE. PMID 12761245.
- "Tuba, a novel protein containing bin/amphiphysin/Rvs and Dbl homology domains, links dynamin to regulation of the actin cytoskeleton". J. Biol. Chem. 278 (49): 49031–43. 2004. doi:10.1074/jbc.M308104200. PMID 14506234.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
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