| Full Name | PDS5 Cohesin Associated Factor A |
|---|---|
| Symbol | PDS5A |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | [23244](https://www.ncbi.nlm.nih.gov/gene/23244) |
| OMIM | [609661](https://omim.org/entry/609661) |
| Ensembl ID | [ENSG00000121570](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121570) |
| UniProt | [Q29RF7](https://www.uniprot.org/uniprot/Q29RF7) |
| Associated Diseases | [Cornelia de Lange Syndrome](/cornelia-de-lange-syndrome), [Acute Myeloid Leukemia](/acute-myeloid-leukemia), [Genomic Instability](/genomic-instability) |
PDS5A (PDS5 Cohesin Associated Factor A) is a regulatory subunit of the cohesin complex that modulates cohesin dynamics, stability, and chromatin association. Together with its paralog PDS5B, PDS5A forms a flexible interface that interacts with cohesin core subunits and regulatory factors like WAPL and SORORIN to control sister chromatid cohesion, DNA repair, and gene expression[1].
PDS5A binds to the cohesin complex and:
PDS5A is essential for:
In non-dividing cells, PDS5A influences:
PDS5A participates in:
PDS5A mutations are a rare cause of CdLS-like phenotypes:
The phenotype overlaps with NIPBL and SMC1A mutations, reflecting the shared cohesin pathway involvement.
Cohesin mutations, including PDS5A alterations, occur in AML:
PDS5A variants have been associated with:
PDS5A is ubiquitously expressed with enrichment in:
Moderate expression throughout the adult brain with relatively uniform distribution across regions. Slightly higher levels in:
Management of PDS5A-related disorders focuses on:
PDS5A alterations may confer therapeutic vulnerabilities:
Losada A, et al. Identification of the vertebrate cohesin regulatory subunit PDS5. Cell. 2005. ↩︎
Shintomi K, Hirano T. Releasing cohesin from chromosome arms in early mitosis: opposing actions of Wapl-Pds5 and Sgo1. Genes and Development. 2009. ↩︎
Dorsett D, Strom L. The ancient and evolving roles of cohesin in gene expression and DNA repair. Current Biology. 2012. ↩︎
Merkenschlager M, Odom DT. CTCF and cohesin: linking gene regulatory elements with disease genes. Cell. 2013. ↩︎
Watrin E, Peters JM. The cohesin complex is required for the DNA damage-induced G2/M checkpoint. Molecular Cell. 2006. ↩︎
Gil-Rodriguez MC, et al. De novo heterozygous mutations in PDS5A in patients with Cornelia de Lange syndrome. American Journal of Human Genetics. 2015. ↩︎
Kon A, et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nature Genetics. 2013. ↩︎
Zhang B, et al. Dosage effects of cohesin regulatory factor PDS5 on chromatin cohesion and gene expression. PLOS Genetics. 2019. ↩︎
Mondal G, et al. Functional consequences of mutations in the cohesin acetyltransferase ESCO1 in cancer. Cell Reports. 2020. ↩︎