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10.1101/gad.286351.116 http://scihub22266oqcxt.onion/10.1101/gad.286351.116 C5088565!5088565 !27737959     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27737959 &cmd=llinks): Failed to open stream: HTTP request failed! 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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis |pdf=|usr=}}{{27737959 }} gab.com Text Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis JO: Genes Dev http://www.kidney.de/pget.php?&tw=1&pmid=27737959 #FOAvip Compaction of chromosomes is essential for accurate segregation of the genome during mitosis. In vertebrates, two condensin complexes ensure timely chromosome condensation, sister chromatid disentanglement, and maintenance of mitotic chromosome structure. Here, we report that biallelic mutations in NCAPD2, NCAPH, or NCAPD3, encoding subunits of these complexes, cause microcephaly. In addition, hypomorphic Ncaph2 mice have significantly reduced brain size, with frequent anaphase chromatin bridge formation observed in apical neural progenitors during neurogenesis. Such DNA bridges also arise in condensin-deficient patient cells, where they are the consequence of failed sister chromatid disentanglement during chromosome compaction. This results in chromosome segregation errors, leading to micronucleus formation and increased aneuploidy in daughter cells. These findings establish "condensinopathies" as microcephalic disorders, with decatenation failure as an additional disease mechanism for microcephaly, implicating mitotic chromosome condensation as a key process ensuring mammalian cerebral cortex size. Twit Text FOAVip Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis ????Genes Dev http://www.kidney.de/pget.php?&tw=1&pmid=27737959 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27737959 #FOAvip English Wikipedia <ref>{{Cite pmid|27737959 }}</ref> Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis #MMPMID27737959 Martin CA ; Murray JE ; Carroll P ; Leitch A ; Mackenzie KJ ; Halachev M ; Fetit AE ; Keith C ; Bicknell LS ; Fluteau A ; Gautier P ; Hall EA ; Joss S ; Soares G ; Silva J ; Bober MB ; Duker A ; Wise CA ; Quigley AJ ; Phadke SR ; Wood AJ ; Vagnarelli P ; Jackson AP Genes Dev 2016[Oct]; 30 (19 ): 2158-2172 PMID27737959 show ga Compaction of chromosomes is essential for accurate segregation of the genome during mitosis. In vertebrates, two condensin complexes ensure timely chromosome condensation, sister chromatid disentanglement, and maintenance of mitotic chromosome structure. Here, we report that biallelic mutations in NCAPD2, NCAPH, or NCAPD3, encoding subunits of these complexes, cause microcephaly. In addition, hypomorphic Ncaph2 mice have significantly reduced brain size, with frequent anaphase chromatin bridge formation observed in apical neural progenitors during neurogenesis. Such DNA bridges also arise in condensin-deficient patient cells, where they are the consequence of failed sister chromatid disentanglement during chromosome compaction. This results in chromosome segregation errors, leading to micronucleus formation and increased aneuploidy in daughter cells. These findings establish "condensinopathies" as microcephalic disorders, with decatenation failure as an additional disease mechanism for microcephaly, implicating mitotic chromosome condensation as a key process ensuring mammalian cerebral cortex size. |Adenosine Triphosphatases/*genetics [MESH] |Aneuploidy [MESH] |Animals [MESH] |Catenanes/metabolism [MESH] |Cell Cycle Proteins/genetics/metabolism [MESH] |Cells, Cultured [MESH] |Chromosomal Instability/genetics [MESH] |Chromosome Segregation/genetics [MESH] |DNA-Binding Proteins/*genetics [MESH] |Female [MESH] |Humans [MESH] |Male [MESH] |Mice [MESH] |Mice, Inbred C57BL [MESH] |Microcephaly/*genetics [MESH] |Micronuclei, Chromosome-Defective [MESH] |Mitosis/*genetics [MESH] |Multiprotein Complexes/*genetics [MESH] |Mutation/*genetics [MESH] |Neurons/pathology [MESH] |Nuclear Proteins/genetics/metabolism [MESH]Mutations in genes encoding condensin complex proteins cause microceph(epmc).pdf DeepDyve Pubget Overpricing