Abstract:
:Mutations in the MCPH1 gene result in primary microcephaly in combination with a unique cellular phenotype of defective chromosome condensation. MCPH1 patient cells display premature chromosome condensation in G2 phase of the cell cycle and delayed decondensation in early G1 phase, observable as an increased proportion of cells with prophase-like appearance. MCPH1 deficiency thus appears to uncouple the chromosome cycle from the coordinated series of events that take place during mitosis such as some phases of the centrosome cycle and nuclear envelope breakdown. Here, we provide a further characterization of the effects of MCPH1 loss-of-function on chromosome morphology. In comparison to healthy controls, chromosomes of MCPH1 patients are shorter and display a pronounced coiling of their central chromatid axes. In addition, a substantial fraction of metaphase chromosomes shows apparently unresolved chromatids with twisted appearance. The patient chromosomes also showed signs of defective centromeric cohesion, which become more apparent and pronounced after harsh hypotonic conditions. Taking together, the observed alterations indicate additional so far unknown functions of MCPH1 during chromosome shaping and dynamics.
journal_name
Chromosomajournal_title
Chromosomaauthors
Arroyo M,Trimborn M,Sánchez A,Hirano T,Neitzel H,Marchal JAdoi
10.1007/s00412-015-0512-2subject
Has Abstractpub_date
2015-12-01 00:00:00pages
491-501issue
4eissn
0009-5915issn
1432-0886pii
10.1007/s00412-015-0512-2journal_volume
124pub_type
杂志文章相关文献
CHROMOSOMA文献大全abstract::A simple method has been described for the visualization of chromosomes cores with light microscopy in conventional chromosome preparations. The technique is relatively simple, highly reproducible and can be used effectively on fresh and aged slides. The following observations have been made: (1) a core existed in mit...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00292418
更新日期:1980-01-01 00:00:00
abstract::The 5S RNA gene content of polyploid cells of the ovary of Drosophila melanogaster has been compared in animals with two or three gene clusters. The amount of 5S RNA genes is exactly proportional to the number of gene clusters as determined by DNA-RNA filter hybridization. In contrast, the number of rDNA genes in endo...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00328768
更新日期:1979-01-31 00:00:00
abstract::BrdU-33258 Hoechst techniques have been used to characterize DNA replication patterns in lymphocytes from hunam females with supernumerary or structurally abnormal X chromosomes. Fluorescence analysis permits identification of late replicating X chromosomes in a very high proportion of cells and affords a high resolut...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00292912
更新日期:1976-08-17 00:00:00
abstract::Among his many contributions to the field of chromosome structure and dynamics, J. Herbert Taylor showed that eukaryotic cells have many more potential replication origins than they use, which they can recruit when replication forks are slowed to complete S-phase in a timely fashion. Thirty years later, his findings r...
journal_title:Chromosoma
pub_type: 杂志文章,评审
doi:10.1007/s00412-007-0105-9
更新日期:2007-08-01 00:00:00
abstract::A new method is described which allows the purification of large quantities of nuclei (germinal vesicles) from Xenopus laevis vitellogenic oocytes of different developmental stages. From the isolated nuclei, purified nucleoli were obtained. The isolated germinal vesicles are transcriptionally active showing endogenous...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00328531
更新日期:1978-05-16 00:00:00
abstract::Replication times for all important chromosome bands, of both types R and Q (277 structures) are analysed. The R-bands form a group of structures whose DNA replicates during the early S-phase, while the DNA situated in the Q-bands replicates during the late S-phase. There may not exist overlapping between replication ...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00293440
更新日期:1976-10-12 00:00:00
abstract::The organization of interphase chromatin spans many topics, ranging in scale from the molecular level to the whole nucleus, and its study requires a concomitant range of experimental approaches. In this review, we examine these approaches, the results they have generated, and the interfaces between them. The greatest ...
journal_title:Chromosoma
pub_type: 杂志文章,评审
doi:10.1007/s00412-005-0035-3
更新日期:2006-02-01 00:00:00
abstract::Drosophila melanogaster was transformed with an 18 kb fragment of the C3 DNA puff of Rhynchosciara americana, including the C3-22 gene and the origins of replication that direct amplification. Different tissues and developmental stages of five independent transgenic lines were analyzed by quantitative Southern blot hy...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s00412-003-0254-4
更新日期:2003-10-01 00:00:00
abstract::In 1906, the Spanish neurobiologist Santiago Ramón y Cajal was awarded the Nobel Prize in Physiology or Medicine in recognition of his work on the structure of neurons and their connections. Cajal is commonly regarded as the father of modern neuroscience. What is less well known is that Cajal also had a great interest...
journal_title:Chromosoma
pub_type: 传,历史文章,杂志文章,评审
doi:10.1007/s00412-009-0212-x
更新日期:2009-08-01 00:00:00
abstract::Facioscapulohumeral muscular dystrophy (FSHD) is caused by the shortening of a copy-number polymorphic array of 3.3 kb repeats (D4Z4) at one allelic 4q35.2 region. How this contraction of a subtelomeric tandem array causes FSHD is unknown but indirect evidence suggests that a short array has a cis effect on a distant ...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s00412-004-0280-x
更新日期:2004-05-01 00:00:00
abstract::Genomic sequencing reveals similar but limited numbers of protein-coding genes in different genomes, which begs the question of how organismal diversities are generated. Alternative pre-mRNA splicing, a widespread phenomenon in higher eukaryotic genomes, is thought to provide a mechanism to increase the complexity of ...
journal_title:Chromosoma
pub_type: 杂志文章,评审
doi:10.1007/s00412-013-0407-z
更新日期:2013-06-01 00:00:00
abstract::In Drosophila gibberosa, differences between midgut and salivary gland chromosomes fall into two categories: tissue-specific band modulations which persist throughout the 90 h developmental period that we studied and tissue-specific puffs. Puffs that are common to both tissues tend to appear earlier in the midgut. Som...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00292969
更新日期:1988-11-01 00:00:00
abstract::We characterized four meiotic mutants of the fission yeast Schizosaccharomyces pombe by live observation of nuclear movement. Nuclei were stained with either the DNA-specific fluorescent dye Hoechst 33342 or jellyfish green fluorescent protein (GFP) fused with the N-terminal portion of DNA polymerase alpha. We first f...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s004120050417
更新日期:2000-01-01 00:00:00
abstract::Chromosome replication in the last premeiotic S-phase of male mammals has been previously studied by [3H]thymidine autoradiography and by a 5-bromodeoxyuridine (BrdU)/Giemsa technique. We used a recently developed BrdU-antibody technique (BAT) in this study. The following conclusions were drawn: (1) The replication pa...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00346006
更新日期:1992-03-01 00:00:00
abstract::In Xenopus laevis eight tRNA genes are located in a 3.18 kb tandemly repeated unit. There are 150 copies of the unit at a single locus near the long arm telomere of one of the acrocentric chromosomes in the 14-17 group. Two additional classes of tRNA gene-containing repeats have been isolated (defined by clones p3.1 a...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00352227
更新日期:1995-10-01 00:00:00
abstract::Triplet conjugation occurs frequently when three different mating types of T. thermophila are mixed under appropriate conditions. Genetic studies show that fertilization is usually tripolar, with each conjugant contributing a pronucleus to one mate and receiving a pronucleus from the other. Triplets are less common an...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00330410
更新日期:1977-03-07 00:00:00
abstract::An inverted duplication of chromosome 15 [inv dup(15)] is the most common supernumerary marker chromosome, comprising approximately 50% of all chromosomes in this class. Structurally, the inv dup(15) is a mirror image with the central axis defining a distal break within either the heterochromatic alpha-satellite array...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s004120000103
更新日期:2000-11-01 00:00:00
abstract::Telomeric DNA is present at the ends of eukaryotic chromosomes and is bound by telomere "capping" proteins, which are the (Cdc13-Stn1-Ten1) CST complex, Ku (Yku70-Yku80), and Rap1-Rif1-Rif2 in budding yeast. Inactivation of any of these complexes causes telomere "uncapping," stimulating a DNA damage response (DDR) tha...
journal_title:Chromosoma
pub_type: 杂志文章,评审
doi:10.1007/s00412-011-0357-2
更新日期:2012-04-01 00:00:00
abstract::Four different inversion heterozygotes of maize were examined for the occurrence of synaptic adjustment. Three substages of pachytene were identified in synaptonemal complex (SC) spreads using side-by-side comparisons of chromosome squashes with two-dimensional spreads of SCs. In SC spreads, inversion loop frequency d...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00286917
更新日期:1988-01-01 00:00:00
abstract::Of 204 mutations located in the 8-12 band Df(2L)130 region, 37B9-C1,2;37D1-2, 199 have been assigned to twelve lethal genes and one visible gene (hook). The 13 genes are not evenly distributed. Twelve, (possibly all thirteen) are in the seven band region 37B10-C4 giving a gene-to-band ratio of almost two. Only one gen...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00286015
更新日期:1981-01-01 00:00:00
abstract::Mammalian heterochromatin proteins 1 (HP1alpha, HP1beta, and HP1gamma) are nonhistone proteins that interact in vitro with a set of proteins that play a role in chromatin silencing, transcription, and chromatin remodeling. Using antibodies specific for each HP1 isoform, we showed that they segregate in distinct nuclea...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s004120050372
更新日期:1999-08-01 00:00:00
abstract::Chromosome paints of the rat kangaroo ( Aepyprymnus rufuscens, 2 n=32) were used to define chromosome regions in the long nosed potoroo ( Potorous tridactylus, 2 n=12 female, 13 male) karyotype and localize these regions in three-dimensionally preserved nuclei of the potoroo to test the hypothesis that marsupial chrom...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s00412-003-0246-4
更新日期:2003-08-01 00:00:00
abstract::The best-studied Drosophila insulator complex consists of two BTB-containing proteins, the Mod(mdg4)-67.2 isoform and CP190, which are recruited cooperatively to chromatin through interactions with the DNA-binding architectural protein Su(Hw). While Mod(mdg4)-67.2 interacts only with Su(Hw), CP190 interacts with many ...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s00412-017-0645-6
更新日期:2018-03-01 00:00:00
abstract::The sub-division of S-phase in Syrian hamsters, on the basis of Brd/U/Hoechst 33258/Giemsa banding, has allowed a quantitative comparison of the replication of individual chromosome bands within defined subphases of S. This analysis has shown that in hamsters, as has been reported in humans, there are distinct pattern...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00286026
更新日期:1981-01-01 00:00:00
abstract::The 17 kDa human autoantigen designated CENP-A is a centromere specific histone. We show here that CENP-A is present in tissue of bovine origin, and that it is quantitatively retained in mature spermatozoa. This result is striking, as a prominent feature of spermatogenesis in mammals is the replacement of most somatic...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00337600
更新日期:1990-12-01 00:00:00
abstract::We describe a mammalian artificial mini-chromosome lacking human alphoid DNA and mouse minor and major satellite DNA repeats. This mini-chromosome, initially recovered in a mouse embryonic stem (ES) cell line (CGR8), is 2.6 Mb in size and consists of sequences derived from the human Y chromosome and mouse chromosomes ...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s004120100160
更新日期:2001-11-01 00:00:00
abstract::Fluorescence in situ hybridization (FISH), especially chromosome painting, has been extensively exploited in the phylogenetic reconstruction of primate evolution. Although chromosome painting is a key method to map translocations, it is not effective in detecting chromosome inversions, which may be up to four times mo...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s00412-015-0565-2
更新日期:2016-09-01 00:00:00
abstract::Cyclins, as regulatory partners of cyclin-dependent kinases (CDKs), control the switch-like cell cycle transitions that orchestrate orderly duplication and segregation of genomes. Compared to mitosis, relatively little is known about how cyclin-CDK complexes control meiosis, the specialized cell division that generate...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s00412-019-00725-5
更新日期:2019-09-01 00:00:00
abstract::Regulation of DNA replication is critical, and loss of control can lead to DNA amplification. Naturally occurring, developmentally regulated DNA amplification occurs in the DNA puffs of the late larval salivary gland giant polytene chromosomes in the fungus fly, Sciara coprophila. The steroid hormone ecdysone induces ...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/s00412-012-0395-4
更新日期:2013-03-01 00:00:00
abstract::The DNA coding for 28 S and 18 S ribosomal RNA, including the spacer regions, has been isolated from calf (Bos taurus) thymus gland. The method used included shearing of the total DNA to a highly homogeneous size population, selective heat denaturation and S1 nuclease treatment to remove single stranded DNA. Repeated ...
journal_title:Chromosoma
pub_type: 杂志文章
doi:10.1007/BF00293439
更新日期:1976-10-12 00:00:00