Abstract:
:X chromosome inactivation and DNA methylation are reviewed, with emphasis on the contributions of Susumu Ohno and the predictions made in my 1975 paper (Riggs, 1975), in which I proposed the "maintenance methylase" model for somatic inheritance of methylation patterns and suggested that DNA methylation would be involved in mammalian X chromosome inactivation and development. The maintenance methylase model is discussed and updated to consider methylation patterns in cell populations that have occasional, stochastic methylation changes by de novo methylation or demethylation, either active or passive. The "way station" model for the spread of X inactivation by LINE-1 elements is also considered, and some recent results from my laboratory are briefly reviewed.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Riggs ADdoi
10.1159/000071569keywords:
subject
Has Abstractpub_date
2002-01-01 00:00:00pages
17-24issue
1-4eissn
1424-8581issn
1424-859Xpii
71569journal_volume
99pub_type
传,历史文章,杂志文章,评审abstract::Only mammals have relinquished parthenogenesis as a means of producing descendants. Bi-parental reproduction is necessary due to parent-specific epigenetic modification of the genome during gametogenesis, which leads to non-equivalent expression of imprinted genes from the maternal and paternal alleles. However, a ser...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000090812
更新日期:2006-01-01 00:00:00
abstract::Sources of environmental exposures to potentially aneugenic agents are many and include occupational and therapeutic exposures, and exposures associated with lifestyle habits. In this present study, some of these agents and exposure scenarios are discussed that involve potentially large population targets and/or seem ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000323284
更新日期:2011-01-01 00:00:00
abstract::Turtle karyotypes are highly conserved compared to other vertebrates; yet, variation in diploid number (2n = 26-68) reflects profound genomic reorganization, which correlates with evolutionary turnovers in sex determination. We evaluate the published literature and newly collected comparative cytogenetic data (G- and ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000447478
更新日期:2016-01-01 00:00:00
abstract::The detection of quantitative changes in genomic DNA, i.e. deletions and duplications or Copy Number Variants (CNVs), has recently gained considerable interest. First, detailed analysis of the human genome showed a surprising amount of CNVs, involving thousands of genes. Second, it was realised that the detection of C...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000184723
更新日期:2008-01-01 00:00:00
abstract::Sex-determining mechanisms (SDMs) set an individual's sexual fate by its genotype (genotypic sex determination, GSD) or environmental factors like temperature (temperature- dependent sex determination, TSD), as in turtles where the GSD "trigger" remains unknown. SDMs co-evolve with turtle chromosome number, perhaps be...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000497302
更新日期:2019-01-01 00:00:00
abstract::The Deleted in AZoospermia Like (DAZL) gene is a member of the DAZ family and encodes an RNA-binding protein that is expressed in prenatal and postnatal germ cells of males and females. In the human, there are five highly-related members in the DAZ family, four (DAZ1-4) on the Y chromosome and one (DAZL) on an autosom...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000097419
更新日期:2007-01-01 00:00:00
abstract::Indefinite proliferation of eukaryotic cells depends on telomerase that counteracts the depletion of DNA from chromosome termini due to the end replication problem. The requirement for telomerase can, under certain conditions, be circumvented by employing homologous recombination-based mechanisms for telomere maintena...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000167827
更新日期:2008-01-01 00:00:00
abstract::Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000442068
更新日期:2015-01-01 00:00:00
abstract::A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining, C-banding, DAPI and CMA(3) fluorochrome staining, and fluores...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076304
更新日期:2003-01-01 00:00:00
abstract::We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic origin, mean parental ages, and underlying pathways. Chromosomes involved were 1-9, 13-18, 20-22...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000351184
更新日期:2013-01-01 00:00:00
abstract::Osteosarcomas are primary tumors of bone that most often develop in adolescents. They are characterized by complex genomic changes including amplifications, deletions, and translocations. The chromosome region 17p11.2p12 is frequently amplified in human high grade osteosarcomas (25% of cases), suggesting the presence ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000451046
更新日期:2016-01-01 00:00:00
abstract::A reduction in recombination in the pseudoautosomal region is associated with an increased frequency of aneuploid 24,XY human sperm. Similarly, individuals with paternally derived Klinefelter syndrome (47,XXY) also have a paucity of recombination in the chromosomes that have undergone nondisjunction. Meiotic studies u...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000086895
更新日期:2005-01-01 00:00:00
abstract::The Mx gene was originally found in laboratory mice in an infection experiment using influenza virus (Lindermann, 1962). Almost all of the mouse strains in that experiment died from the infection, and only the A2G strain had resistance to the virus. This resistant character was shown to be inherited as a single autoso...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000103200
更新日期:2007-01-01 00:00:00
abstract::Translocations involving chromosomal region 19q13 are a frequent finding in follicular adenomas of the thyroid and might represent the most frequent type of structural aberration in human epithelial tumors. By positional cloning, a putative candidate gene, ZNF331 (formerly RITA) located close to the breakpoint was ide...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000074165
更新日期:2003-01-01 00:00:00
abstract::The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communica...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000335465
更新日期:2012-01-01 00:00:00
abstract::In birds, females are heterogametic (ZW), while males are homogametic (ZZ). It has been proposed that there is no dosage compensation for the expression of Z-linked genes in birds. In order to examine if the genes are inactivated on one of the two Z chromosomes, we analyzed the allelic expression of the B4GALT1 and CH...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000071609
更新日期:2002-01-01 00:00:00
abstract::Scapinin has been found to bind to cytoplasmic actin and is also a putative regulatory subunit of protein phosphatase-1 (PP1). It is found attached to the nuclear matrix-intermediate filament (NM-IF) and is down-regulated by differentiation of tumor cells. We have analyzed the genomic structure and tissue-specific exp...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000094797
更新日期:2006-01-01 00:00:00
abstract::The aim of this review is to describe the level of intimacy between Ty retrotransposons (Ty1-Ty5) and their host the yeast Saccharomyces cerevisiae. The effects of Ty location in the genome and of host proteins on the expression and mobility of Ty elements are highlighted. After a brief overview of Ty diversity and ev...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000084940
更新日期:2005-01-01 00:00:00
abstract::Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000184703
更新日期:2008-01-01 00:00:00
abstract::Recently, the reticulated giraffe (G. reticulata) was identified as a distinct species, which emphasized the need for intensive research in this interesting animal. To shed light on the meiotic process as a source of biodiversity, we analysed the frequency and distribution of meiotic recombination in 2 reticulated gir...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000478684
更新日期:2017-01-01 00:00:00
abstract::It is well known that TP53 may mediate apoptosis triggered by anticancer drugs. However, accumulating evidence indicates that TP53 may be inactivated by mutations and/or deletions in about 50% of human cancers and, as such, may lead to pronounced resistance to therapeutic agents. Thus, the development of new approache...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000227831
更新日期:2009-01-01 00:00:00
abstract::The discovery of complex structural variations that exist within individual genomes has prompted a need to visualize chromosomes at a higher resolution than previously possible. To address this concern, we established a robust, high-resolution fluorescence in situ hybridization (FISH) method that utilizes probes deriv...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000322717
更新日期:2011-01-01 00:00:00
abstract::Radiation-induced chromosome damage can be measured in interphase using the Premature Chromosome Condensation (PCC) technique. With the introduction of a new PCC technique using the potent phosphatase inhibitor calyculin-A, chromosomes can be condensed within five minutes, and it is now possible to examine the early d...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000077491
更新日期:2004-01-01 00:00:00
abstract::The DDX4/VASA gene plays an important role in germ cell development in animals. We cloned and characterized a marsupial DDX4/VASA homolog (TvDDX4, 2,769 bps) from the possum and examined its expression in adult tissues at mRNA and protein levels. The isolated cDNA had a deduced 704 amino acid residues with significant...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000266170
更新日期:2009-01-01 00:00:00
abstract::Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome s...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000368863
更新日期:2014-01-01 00:00:00
abstract::We have made a set of chromosome-specific painting probes for the American mink by degenerate oligonucleotide primed-PCR (DOP-PCR) amplification of flow-sorted chromosomes. The painting probes were used to delimit homologous chromosomal segments among human, red fox, dog, cat and eight species of the family Mustelidae...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000063032
更新日期:2002-01-01 00:00:00
abstract::It is widely accepted that the H2AX histone in its phosphorylated form (gamma-H2AX) is related to the repair of DNA double-strand breaks (DSBs). In several organisms, gamma-H2AX presence has been demonstrated in meiotic processes such as recombination and sex chromosome inactivation during prophase I (from leptotene t...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000100416
更新日期:2007-01-01 00:00:00
abstract::Using FISH and RH mapping a chromosomal map of rat chromosome 10 (RNO10) was constructed. Our mapping data were complemented by other published data and the final map was compared to maps of mouse and human chromosomes. RNO10 contained segments homologous to mouse chromosomes (MMU) 11, 16 and 17, with evolutionary bre...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000063052
更新日期:2002-01-01 00:00:00
abstract::Neuroglobin and cytoglobin are two novel members of the vertebrate globin family. Their physiological role is poorly understood, although both proteins bind oxygen reversibly and may be involved in cellular oxygen homeostasis. Here we investigate the selective constraints on coding and non-coding sequences of the neur...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000078011
更新日期:2004-01-01 00:00:00
abstract::In order to determine synteny conservation of the avian Z chromosome, a chicken (Gallus gallus, GGA) Z chromosome painting probe was hybridized to the chromosomes of 14 bird species belonging to 11 different families. The GGAZ painted the Z chromosomes in all species analyzed, suggesting strong conservation of its gen...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000163092
更新日期:2008-01-01 00:00:00