Ask about this productRelated genes to: KIAA0020 antibody
- Gene:
- PUM3 NIH gene
- Name:
- pumilio RNA binding family member 3
- Previous symbol:
- KIAA0020
- Synonyms:
- XTP5, PEN, PUF6, hPUF-A, HA-8
- Chromosome:
- 9p24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-06
- Date modifiied:
- 2015-11-05
Related products to: KIAA0020 antibody
Related articles to: KIAA0020 antibody
- Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low-resolution strategies (i.e., karyotypes, chromosome microarrays). These studies have provided important initial insights into these syndromes. This current study is the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with chromosome 9p syndromes. - Source: PubMed
Publication date: 2025/10/24
Wang YingxiSams Eleanor ISlaugh RachelCrocker SandraHurtado Emily CordovaTracy SophiaHou Ying-Chen ClaireMarkovic ChristopherValle KostandinTate VictoriaBelhassan KhadijaAppelbaum ElizabethAkinwe TitilopeStarosta Rodrigo TCao YangNeilson AmberLiu YuJensen NathanielGhasemi RezaLindsay TinaManuel JuanaCouteranis SophiaKremitzki MilinnUstanik JackAntonacci ThomasNg Jeffrey KEmory AndrewMetz LauraDeLuca TracieLyons Katherine NSinnwell ToniThomeczek BrianneWang KymmeSisneros NickMuraleedharan MeghaKethireddy AnanthaCorbo MarcoGowda HarshaKing Katherine AGurnett Christina ADutcher Susan KGooch CatherineLi Yang EMitchell Matthew WPeterson Kevin AHorani AmjadRosenfeld Jill ABi WeiminStankiewicz PawelChao Hsiao-TuanPosey Jennifer EGrochowski Christopher MDardas ZainPuffenberger Erik GPearson Christopher EKooy FrankAnnear DaleInnes A MicheilHeinz MichaelHead RichardFulton RobertToutain Stephan Antonacci-Fulton LucindaCui XiaoxiaMitra Robi DCole F SessionsNeidich JulieDickson Patricia IMilbrandt JeffreyTurner Tychele N - Topoisomerases are essential for resolving topological stress in DNA during key cellular processes. In human cells, six topoisomerases perform specialized yet overlapping functions to manage these challenges. To investigate their distinct and shared roles, as well as their involvement in DNA damage repair, we conducted a comprehensive analysis of the human topoisomerase-associated protein landscape. Using tandem affinity purification coupled with mass spectrometry, we mapped the protein-protein interaction networks of five human topoisomerases under both normal and stressed conditions. Our analysis identified several key interactions that may regulate topoisomerase function. Notably, TOP1 interacts with PUM3, which undergoes a similar relocalization from nucleoli to nucleoplasm following treatment with a TOP1 poison. In addition, we uncovered novel interactions of TOP3A with NSMCE4A, YTHDC2, and NDUFAF7, as well as a previously uncharacterized interaction between TOP3B and the mitochondrial membrane protein TDRKH (TDRD2). We further examined dynamic changes in these interactomes in response to TOP1 and TOP2 poisons and replication stress, distinguishing between interactions in chromatin and soluble fractions. These findings provide new insights into the regulation and functional coordination of human topoisomerases, offering potential biomarkers or therapeutic targets for topoisomerase inhibitors in cancer treatment. - Source: PubMed
Publication date: 2025/10/01
Zhang HuiminXiong YunChen ZhenChen Junjie - Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, chromosome microarrays). We present the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with 9p-related syndromes including 85 unrelated probands through the 9P-ARCH (dvanced esearch in hromosomal ealth: Genomic, Phenotypic, and Functional Aspects of -Related syndromes) research network. We analyzed the genomic architecture of these syndromes, highlighting fundamental features and their commonalities and differences across individuals. This work includes a machine-learning model that predicts 9p deletion syndrome from gene copy number estimates using WGS data. Two Late Replicating Regions (LRR1 [a previously un-named human fragile site], LRR2) were identified that contain most structural variant breakpoints in 9p deletion syndrome pointing to replication-based issues in structural variant formation. Furthermore, we show the utility of using WGS information to obtain a comprehensive understanding of 9p-related variation in an individual with complex structural variation where chromothripsis is the likely mechanism. Genes on 9p were prioritized based on statistical assessment of human genomic variation. Furthermore, through application of spatial transcriptomics to embryonic mouse tissue we examined 9p-gene expression in craniofacial and brain development. Through these strategies, we identified 24 important genes for the majority (83%) of individuals with 9p deletion syndrome including , , , , , , , and . Two genes (, ) are involved in mitochondrial function and testing of the mitochondrial genome revealed excess copy number in individuals with 9p deletion syndrome. This study presents the most comprehensive genomic analysis of 9p-related syndromes to date, with plans for further expansion through our 9P-ARCH research network. - Source: PubMed
Publication date: 2025/03/30
Wang YingxiSams Eleanor ISlaugh RachelCrocker SandraHurtado Emily CordovaTracy SophiaHou Ying-Chen ClaireMarkovic ChristopherValle KostandinTate VictoriaBelhassan KhadijaAppelbaum ElizabethAkinwe TitilopeTzovenos Rodrigo StarostaCao YangNeilson AmberLiu YuJensen NathanielGhasemi RezaLindsay TinaManuel JuanaCouteranis SophiaKremitzki MilinnUstanik JackAntonacci ThomasNg Jeffrey KEmory AndrewMetz LauraDeLuca TracieLyons Katherine NSinnwell ToniThomeczek BrianneWang KymmeSisneros NickMuraleedharan MeghaKethireddy AnanthaCorbo MarcoGowda HarshaKing KatherineGurnett Christina ADutcher Susan KGooch CatherineLi Yang EMitchell Matthew WPeterson Kevin AHorani AmjadRosenfeld Jill ABi WeiminStankiewicz PawelChao Hsiao-TuanPosey JenniferGrochowski Christopher MDardas ZainPuffenberger ErikPearson Christopher EKooy FrankAnnear DaleInnes A MicheilHeinz MichaelHead RichardFulton RobertToutain Stephan Antonacci-Fulton LucindaCui XiaoxiaMitra Robi DCole F SessionsNeidich JulieDickson Patricia IMilbrandt JeffreyTurner Tychele N - (), an evolutionarily distant homologue of the classical RNA-binding protein PUF (PUMILIO and FBF) family member, is also involved in the process of RNA metabolism through post-transcriptional regulation. However, the functions of in mouse oocyte maturation and preimplantation embryonic development have not been elucidated. By comparing RNA levels in different tissues, we found that was widely expressed in multiple tissues, but moderately predominant in the ovary. Histochemical staining suggested that the PUM3 protein exhibits positive signals in oocytes, granulosa cells and theca cells of different follicle stages. Oocyte immunofluorescence results showed a slightly higher level of PUM3 protein in metaphase II compared with the germinal vesicle (GV) stage. After knockdown of in GV oocytes using siRNA injection (siPUM3), no obvious defect was observed in the processes of GV breakdown and polar body extrusion during maturation (IVM) for the oocytes. Compared with the control group, the group displayed no significant abnormality in the cleavage and blastocyst formation rate of these fertilized oocytes. Therefore, we can conclude that depletion of does not affect mouse oocyte maturation and early embryonic development . - Source: PubMed
Publication date: 2023/05/17
Zhao TingTingHuang WeiLin Kaibo - Minor histocompatibility antigens (mHAgs) are endogenous immunogenic peptides initially identified due to complications detected in several contexts of HLA geno-identical hematopoietic stem cell transplantation (HSCT). In this study, we chose to examine the molecular polymorphism of the mHAgs HA-8 and PANE1 in the Tunisian population. - Source: PubMed
Publication date: 2022/08/29
Said RahmaSellami Mohamed HichemKaabi HoudaHmida Slama