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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
(NATURE PORTFOLIO, 2020-07-23)
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ...
Direct involvement of retinoblastoma family proteins in DNA repair by non-homologous end-joining.
(CELL PRESS, 2015-03-31)
Deficiencies in DNA double-strand break (DSB) repair lead to genetic instability, a recognized cause of cancer initiation and evolution. We report that the retinoblastoma tumor suppressor protein (RB1) is required for DNA ...
CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks.
(NATURE RESEARCH, 2020-11-13)
Chromatin structure is dynamically reorganized at multiple levels in response to DNA double-strand breaks (DSBs). Yet, how the different steps of chromatin reorganization are coordinated in space and time to differentially ...
The BAF and PRC2 Complex Subunits Dpf2 and Eed Antagonistically Converge on Tbx3 to Control ESC Differentiation.
(CELL PRESS, 2019-01-03)
BAF complexes are composed of different subunits with varying functional and developmental roles, although many subunits have not been examined in depth. Here we show that the Baf45 subunit Dpf2 maintains pluripotency and ...
The role of the SWI/SNF chromatin remodelling complex in the response to DNA double strand breaks.
(ELSEVIER, 2020-09-01)
Mammalian cells possess multiple closely related SWI/SNF chromatin remodelling complexes. These complexes have been implicated in the cellular response to DNA double strand breaks (DSBs). Evidence suggests that SWI/SNF ...
Discovery and Optimization of a Selective Ligand for the Switch/Sucrose Nonfermenting-Related Bromodomains of Polybromo Protein-1 by the Use of Virtual Screening and Hydration Analysis.
(AMER CHEMICAL SOC, 2016-10-13)
Bromodomains (BRDs) are epigenetic interaction domains currently recognized as emerging drug targets for development of anticancer or anti-inflammatory agents. In this study, development of a selective ligand of the fifth ...
Cyclin B1 is essential for mitosis in mouse embryos, and its nuclear export sets the time for mitosis.
(ROCKEFELLER UNIV PRESS, 2018-01-02)
There is remarkable redundancy between the Cyclin-Cdk complexes that comprise the cell cycle machinery. None of the mammalian A-, D-, or E-type cyclins are required in development until implantation, and only Cdk1 is ...
TOPBP1 recruits TOP2A to ultra-fine anaphase bridges to aid in their resolution.
(NATURE PUBLISHING GROUP, 2015-03-12)
During mitosis, sister chromatids must be faithfully segregated to ensure that daughter cells receive one copy of each chromosome. However, following replication they often remain entangled. Topoisomerase IIα (TOP2A) has ...
TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation.
(CELL PRESS, 2015-03-19)
The Bloom syndrome helicase BLM and topoisomerase-IIβ-binding protein 1 (TopBP1) are key regulators of genome stability. It was recently proposed that BLM phosphorylation on Ser338 mediates its interaction with TopBP1, to ...
Characterization of Two Distinct Nucleosome Remodeling and Deacetylase (NuRD) Complex Assemblies in Embryonic Stem Cells.
(AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC, 2016-03-01)
Pluripotency and self-renewal, the defining properties of embryonic stem cells, are brought about by transcriptional programs involving an intricate network of transcription factors and chromatin remodeling complexes. The ...