Ask about this productRelated genes to: PDS5B Blocking Peptide
- Gene:
- PDS5B NIH gene
- Name:
- PDS5 cohesin associated factor B
- Previous symbol:
- APRIN
- Synonyms:
- AS3, KIAA0979, FLJ23236, CG008
- Chromosome:
- 13q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-02-24
- Date modifiied:
- 2016-10-05
Related products to: PDS5B Blocking Peptide
Related articles to: PDS5B Blocking Peptide
- Three-dimensional (3D) genome organization is dynamically restructured during early vertebrate development, yet how chromatin domains are established remains poorly understood. In particular, the contribution of individual cohesin regulators to this process during embryogenesis is unclear. PDS5 proteins are key modulators of cohesin dynamics, but their depletion has been reported to cause context-dependent and sometimes contrasting architectural effects in cultured cells. Here, we investigated the roles of the cohesin regulators Pds5a and Pds5b during early development using the medaka embryo. Developmental transcriptome analysis revealed distinct but overlapping expression dynamics of pds5a and pds5b around the transition from zygotic genome activation to gastrulation. Morpholino-mediated depletion of either paralog resulted in only mild morphological phenotypes, whereas simultaneous depletion caused more severe developmental defects. In situ Hi-C analysis showed that single depletion of pds5a or pds5b induced only modest changes in 3D genome organization. In contrast, double depletion led to pronounced architectural alterations, including increased long-range chromatin contacts and de novo formation of extended chromatin loops. Transcriptome analysis revealed largely shared, with some condition-specific, gene expression changes in both single- and double-knockdown embryos, indicating that transcriptional effects can occur even in the absence of major architectural disruption. Together, our findings demonstrate that Pds5a and Pds5b act cooperatively to constrain cohesin-mediated long-range interactions during embryogenesis and highlight the importance of analyzing cohesin regulator function within a developmental context to understand how 3D genome organization is established in vivo. - Source: PubMed
Ikeda ShinraTakeda HiroyukiNakamura Ryohei - Advanced paternal age compromises male fertility and correlates to a decline of the deacetylase SIRT1 activity, a central regulator of germline homeostasis and chromatin dynamics. Acetylation imbalance has been pointed out as a driver of testicular aging. We therefore asked whether SIRT1 insufficiency reproduces aging-associated shifts in the acetylation landscape and how these might propagate to sperm function, fertilization capacity and embryo development. To address this, we combined acetylomic profiling of / and naturally aged mice with functional assays of sperm quality and in vitro fertilization (IVF). Both and aged wild type (WT) testes shared a distinct acetylation signature absent in young WT controls, including nuclear regulators (ZNF638, MORC4), proteins involved in sperm structure and motility (Rootletin, Kinectin, CFAP58), and phosphoinositide signaling mediators such as PLCη1, which regulate intracellular Ca release. Conversely, 22 proteins displayed acetylation exclusively in WT controls but were absent in and aged testes, encompassing modules related to flagellar organization (CEP170, CEP350, AKAP13), meiotic control (ANAPC7, PDS5B, ESCO1, CENPE), signaling and metabolism (SHIP1, GAK, ABCD4), chromatin regulation (BRD4, MAGEB4), and testicular architecture (MFAP2). This differential acetylomic profile persisted in mature sperm, with / males showing elevated acLys levels and, more specifically, midpiece-restricted α-tubulin hyperacetylation, a pattern particularly shared with aged cohorts. Notably, this tubulin hyperacetylation remained after capacitation and correlated with mitochondrial dysfunction, elevated reactive oxygen species, reduced acrosome responsiveness, and diminished fertilization capacity. IVF assays further revealed decreased cleavage and blastocyst developmental rates, indicating defective paternal support of early embryogenesis despite preserved blastocyst quality. Together, these findings indicate that testicular SIRT1 contributes to germline acetylation patterns and that midpiece-restricted α-tubulin hyperacetylation is a shared feature of SIRT1 insufficiency and natural aging, correlating with the mitochondrial dysfunction and impaired sperm performance. Overall, our work broadens current understanding by integrating acetylomic and functional evidence within a model that reflects the physiological, age-related reduction of SIRT1. - Source: PubMed
Publication date: 2026/03/25
Iniesta-Cuerda MaríaValentova IvetaMoravec JiříLiška FrantišekKrálíčková MilenaKrapf DarioNevoral Jan - Cohesin is a fundamental genome-organizing complex that orchestrates three-dimensional chromosome folding and gene expression via DNA loop extrusion. Alterations to genes encoding cohesin subunits and cohesin loaders cause Mendelian disorders, including Cornelia de Lange syndrome (CdLS). By contrast, disruption of factors that remove cohesin from DNA, including and its binding partners and , have not yet been associated with human disease. Here, we explored the relevance of these cohesin release factors in Mendelian disease by establishing a rare disease cohort of deeply phenotyped individuals with heterozygous, predicted damaging variants in (n=27), (n=8), and (n=8), by modeling deficiency in human cell lines and mice, and by aggregating rare disease association statistics from consortia studies. We identified a -related disorder characterized by developmental delay, intellectual disability, and risk of other developmental anomalies including clubfoot. Similarities between individuals with damaging variants and those with large, recurrent 10q22.3q23.2 (10q) deletions (which encompass ) nominate as a driver gene within this genomic disorder region. While carriers of or variants exhibited features of developmental disorders, neither cohort-based statistics nor case phenotyping associated these genes with specific phenotypes. We used CRISPR engineering to generate truncating variants in , as well the 7.8 Mb 10q deletion or duplication in human iPSCs and induced neurons. Transcriptomic analyses identified differentially expressed genes in both models, with highly significant overlap between haploinsufficiency and 10q deletion signatures. Mice with 50% residual expression exhibited mild deficits of growth and learning/memory, whereas those with 25% residual expression displayed birth defects and postnatal lethality, revealing a dosage liability threshold below the level of heterozygosity. In summary, we delineated a novel genetic condition caused by cohesin release factor deficiency, nominated as a driver gene within a genomic disorder region, and further illuminated dosage sensitivity of human cohesin. - Source: PubMed
Publication date: 2026/02/28
Boone Philip MErdin SerkanMohamed AbucarHaghshenas SadeghehFaour Kamli N WKao EmelineFu JackAuwerx ChiaraHarripaul RicardoJana BimalSpringer DanielleHallstrom Greyde Esch Celine E FDenhoff EricaHolmes LaurenMohajeri KianaLemanski JohnKerkhof JenniferMcConkey HaleyRzasa JessicaMcCune Madison JLevy Michael AGrafstein JuliaLarson MatthewWright ZsabreBeauchamp Roberta LLucente DianeJamra Rami AbouAgrawal NeenaAgrawal PankajAndersen Erica FArgilli EmanuelaAraiza ReneeBallal SoniaBaxter Megan FBergant GaberBertsche AstridBhavsar RiyaBortola Debora RBothe ViktoriaBrasch-Andersen CharlotteBraun DominiqueBruel Ange-LineBuchanan CatherineBurt Nicholas DCarvalho Laura M LChiriatti LuigiCogne BenjaminCollins RyanCrunk AmyCurrall BenjaminDelahaye-Duriez AndreeDelanne JulianDenommé-Pichon Anne-SophieDevriendt KoenraadDomingo AloysiusDuncan LauraFaivre LaurenceFamularo LauraFulton AnneGenetti CasieHarel TamarHavlovicova MarketaHiggs JennyHoulier MarineIascone MariaImmken LaDonnaIsidor BertrandKaiser Frank JKarbone KayceeKenna MargaretKhan AmjadKimmig Lara KristinaKleefstra TjitskeKraus Eva-MariaKrepischi Ana C VKrey IlonaLadda RogerLanoue LouiseLe Caignec CedricLewis Zoe KLima GloriaLynch Sally AnnMacek MilanMaier OlivierMaitz SilviaMale AlisonMalikova MarcelaMcKay VictoriaMoldovan OanaMonteil DanielleOliveira Mariana MoysésMunasinghe JeevaNakamori SachikoNeuser SonjaNizon MathildeNuttle XanderO'Keefe KathrynOrec LauraParenti IlariaPeterlin BorutPfundt RolphPouncey JillRadio Francesca ClementinaRobert LeemaRodan LanceRosenberg-Fogler HallelRosenfeld Jill ASafraou HanaSalani MonicaSchliesske SophiaSeaby Eleanor GSell SusanEliot Shearer ASherr ElliottShillington AmelleSiebold DorotheaSinnema MargjeSmith LauraStegmann Alexander P AStevens CathyStevens ServiSurette EricTartaglia MarcoTaylor Jenny CThompson Michelle LTørring Pernille MMau Them Frederic TranTsoulaki OlgaUmair MuhammadVanhoutte ElsVincent MarieVitobello Antoniovon Wintzingerode LydiaWatt AmyWayhelova MarketaWentzensen Ingrid MWilson WilliamWojcik Monica HYuan BoZampino GiuseppeSrivastava SiddharthWestphal Dominik SRiedhammer Korbinian MJoyce EricYadav RachitaGusella JamesTai Derek J CSadikovic BekimPfeifer Karl ETalkowski Michael E - The introduction of domestic cattle to the Philippines is often attributed to Spanish and Chinese sources, yet the origins and adaptive history of Philippine Visayan native cattle remain unclear. This study examined the ancestry, structure, and putative selection signals of the Visayan native cattle from Panay and Siquijor islands (VNC) in a global context. Using genome-wide SNP data, population structure was assessed by PCA, IBS/Nei/ trees, and ADMIXTURE; historical relationships were explored with migration, f-statistics, and an admixture graph; and positive selection was scanned using commonly used methods such as ROH, Tajima's , iHS/XP-EHH, and with cross-validation across methods and functional enrichment of the overlapping regions. VNC exhibited low-to-moderate genetic diversity (Ho and He ≈ 0.21; and FIS = 0.01 to 0.02) with Siquijor enriched for long ROH segments indicating recent inbreeding. Across multiple complementary analyses, VNC showed predominantly indicine ancestry and occupied an intermediate bridge-like position between indicine from mainland Southeast Asia and from Southeastern China, with additional components that were most similar to Iberian taurine cattle and South Asian indicine. Moreover, the current study identified putative selection signatures that would possibly provide insights to better understand the local adaptation of VNC under insular tropical conditions of the Philippines: (1) small stature ( cluster, , , , ), (2) heat tolerance and immune robustness (, , , , , ); (3) early reproductive and maturity reproductive performance (, , , ). Overall, the VNC in Panay and Siquijor showed a predominantly indicine ancestry with putatively island-adapted physiology, emphasizing the need for conservation and island-specific breeding that preserves local adaptation while managing inbreeding. - Source: PubMed
Publication date: 2026/02/09
Dominguez Jorge Michael DYebron Medino Gedeun NBanayo Joy BChen NingboSalces Agapita JKim Kwan Suk - Convergent evolution offers a unique lens through which to explore the molecular underpinnings of significant phenotypic transformations. Similar selective pressures likely drove the evolution of analogous milk traits in sheep and goats. Consequently, the current study aimed to identify common selection signals for milk traits across dairy and non-dairy breeds of sheep and goats worldwide. - Source: PubMed
Publication date: 2026/02/06
Akhatayeva ZhanerkeShi YilongDossybayev KairatMalmakov NurlanCheng HairongBaatar NarantuyaYang JiLi MenghuaLin KejianXu Songsong