PDS5B

PDS5B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5HDT
Identifiers
Aliases	PDS5B , APRIN, AS3, CG008, PDS5 cohesin associated factor B
External IDs	OMIM: 605333 MGI: 2140945 HomoloGene: 41001 GeneCards: PDS5B
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q13.1 Start 32,586,452 bp [1] End 32,778,019 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G3 Start 150,597,204 bp [2] End 150,734,155 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sural nerve endothelial cell tibia bone marrow cells oocyte ganglionic eminence endometrium middle temporal gyrus canal of the cervix Top expressed in superior cervical ganglion otolith organ utricle nucleus accumbens renal corpuscle olfactory tubercle vas deferens ventromedial nucleus paraventricular nucleus of hypothalamus substantia nigra More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding ATP binding DNA binding Cellular component chromosome cytosol chromatin chromosome, centromeric region nucleoplasm nucleus Biological process cell division cell cycle cell population proliferation regulation of cell population proliferation mitotic sister chromatid cohesion negative regulation of cell population proliferation DNA repair lens development in camera-type eye enteric nervous system development neuroblast migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23047 100710 Ensembl ENSG00000083642 ENSMUSG00000034021 UniProt Q9NTI5 Q4VA53 RefSeq (mRNA) NM_015032 NM_015928 NM_175310 NM_001346503 RefSeq (protein) NP_055847 NP_001333432 NP_780519 Location (UCSC) Chr 13: 32.59 – 32.78 Mb Chr 5: 150.6 – 150.73 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sister chromatid cohesion protein PDS5 homolog B(PDS5B) is a protein that in humans is encoded by the PDS5B gene. ^{[5] [6] [7]} It is a regulatory subunit of the Cohesin complex which mediates sister chromatid cohesion, homologous recombination and DNA looping. The core cohesin complex is formed of SMC3, SMC1, RAD21 and either SA1 or SA2. PDS5 associates with WAPL to stimulate the release of cohesin from DNA but during DNA replication PDS5 promotes acetylation of SMC3 by ESCO1 and ESCO2.

Model organisms

Pds5b knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Citrobacter infection	Normal [8]
All tests and analysis from [9] [10]

Model organisms have been used in the study of PDS5B function. A conditional knockout mouse line, called Pds5b^{tm1a(EUCOMM)Wtsi [11] [12]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute. ^{[13] [14] [15]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[9] [16]} Twenty three tests were carried out and two phenotypes were reported. Almost all homozygous mutant animals died prior to birth, and therefore they did not survive until weaning. The remaining tests were carried out on heterozygous mutant mice, and no significant abnormalities were observed. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000083642 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034021 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Couch FJ, Rommens JM, Neuhausen SL, Belanger C, Dumont M, Abel K, Bell R, Berry S, Bogden R, Cannon-Albright L, Farid L, Frye C, Hattier T, Janecki T, Jiang P, Kehrer R, Leblanc JF, McArthur-Morrison J, Meney D, Miki Y, Peng Y, Samson C, Schroeder M, Snyder SC, Simard J, et al. (Feb 1997). "Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13". Genomics. 36 (1): 86–99. doi: 10.1006/geno.1996.0428 . PMID   8812419.
6. Geck P, Szelei J, Jimenez J, Sonnenschein C, Soto AM (May 1999). "Early gene expression during androgen-induced inhibition of proliferation of prostate cancer cells: a new suppressor candidate on chromosome 13, in the BRCA2-Rb1 locus". J Steroid Biochem Mol Biol. 68 (1–2): 41–50. doi:10.1016/S0960-0760(98)00165-4. PMID   10215036. S2CID   32542980.
7. "Entrez Gene: APRIN androgen-induced proliferation inhibitor".
8. "Citrobacter infection data for Pds5b". Wellcome Trust Sanger Institute.
9. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
14. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
15. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
16. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC   3218837 . PMID   21722353.