Extra Euchromatic Band in the Qh Region of Chromosome 9
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Assignment of the AK1:Np:ABO Linkage Group to Human Chromosome 9 (Somatic Cell Hybrids/Enzyme Markers/Gene Localization) A
Proc. Nat. Acad. Sci. USA Vol. 73, No. 3, pp. 895-899, March 1976 Genetics Assignment of the AK1:Np:ABO linkage group to human chromosome 9 (somatic cell hybrids/enzyme markers/gene localization) A. WESTERVELD*§, A. P. M. JONGSMA*, P. MEERA KHANt, H. VAN SOMERENt, AND D. BOOTSMA* * Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands; t Department of Human Genetics, State University, Leiden, The Netherlands; and * Medical Biological Laboratory TNO, P.O. Box 45, Rijswijk 2100, The Netherlands Communicated by Victor A. McKusick, January 8,1976 ABSTRACT In man-Chinese hamster somatic cell hy- cytes were obtained from peripheral blood of male and fe- brids the segregation patterns of the loci for 25 human en- male donors. The details on production, isolation, and propa- zyme markers and human chromosomes were studied. The results provide evidence for the localization of the gene for gation of these hybrids have been published elsewhere (11). adenylate kinase-1 (AKI) on chromosome 9. Since the loci for In the hybrid and parental cell populations the following the ABO blood group (ABO), nail-patella syndrome (Np), and enzymes were analyzed by means of Cellogel electrophore- AK1 are known to be linked in man, the ABO.Np:AKj link- sis: glucose-6-phosphate dehydrogenase (G6PD); phospho- age group may be assigned to chromosome 9. glycerate kinase (PGK); a-galactosidase-A (a-Gal A); lactate dehydrogenases (LDH-A, LDH-B); 6-phosphogluconate de- In man several electrophoretically separable isoenzymes for hydrogenase (6PGD); phosphoglucomutases (PGMI, PGMs); adenylate kinase (AK; EC 2.7.4.3) have been described (1). -
Chromosomal Assignment of the Genes for Human Aldehyde Dehydrogenase-1 and Aldehyde Dehydrogenase-2 LILY C
Am J Hum Genet 38:641-648, 1986 Chromosomal Assignment of the Genes for Human Aldehyde Dehydrogenase-1 and Aldehyde Dehydrogenase-2 LILY C. Hsu,', AKIRA YOSHIDA,' AND T. MOHANDAS2 SUMMARY Chromosomal assignment of the genes for two major human aldehyde dehydrogenase isozymes, that is, cytosolic aldehyde dehydrogenase-1 (ALDH1) and mitochondrial aldehyde dehydrogenase-2 (ALDH2) were determined. Genomic DNA, isolated from a panel of mouse- human and Chinese hamster-human hybrid cell lines, was digested by restriction endonucleases and subjected to Southern blot hybridiza- tion using cDNA probes for ALDH1 and for ALDH2. Based on the distribution pattern of ALDH1 and ALDH2 in cell hybrids, ALDHI was assigned to the long arm of human chromosome 9 and ALDH2 to chromosome 12. INTRODUCTION Two major and at least two minor aldehyde dehydrogenase isozymes exist in human and other mammalian livers. One of the major isozymes, designated as ALDH 1, or E1, is of cytosolic origin, and another major isozyme, designated as ALDH2 or E2, is of mitochondrial origin. The two isozymes are different from each other with respect to their kinetic properties, sensitivity to disulfiram inactivation, and protein structure [1-5]. Remarkable racial differences be- tween Caucasians and Orientals have been found in these isozymes. Approxi- mately 50% of Orientals have a variant form of ALDH2 associated with dimin- ished activity, while virtually all Caucasians have the wild-type active ALDH2 Received July 10, 1985; revised September 23, 1985. This work was supported by grant AA05763 from the National Institutes of Health. ' Department of Biochemical Genetics, Beckman Research Institute of the City of Hope, Duarte, CA 91010. -
The Basic Karyotype of Rye Giemsa and Fluorescence
Heredity (1974) 33 (3), 403-408 THEBASIC KARYOTYPE OF RYE (SECALE CEREALE) ANALYSED WITH GIEMSA AND FLUORESCENCE METHODS CANIO G. VOSA Botany School, Oxford Received26.iii.74 SUMMARY The basic karyotype of Rye (Secale cereale L.) has been analysed with several fluorochromes and with a Giemsa staining technique. Only the fluoro- chrome Hoechst 33258 and the Giemsa technique were successful in differenti- ating the heterochromatic segments. Five cultivated varieties were studied. In the haploid set there are 11 large and two small terminally located bands, four small intercalary bands and a variable band adjacent to the nucleolar constriction on chromosome VII which are constant for all varieties. Five more very small intercalary bands occur sporadically in all the varieties. All the chromosomes possess thin centromeric bands. 1. INTRODUCTION RYE is the hardiest of the cereals and its cultivation reaches beyond the Arctic Circle. It is of considerable importance in Russia, Sweden, Poland, the Netherlands and Belgium. In Britain, Rye has ceased to be of any great importance since the change to wheaten bread in the eighteenth century. Compared with other cereals, Rye has fewer varieties and these are not very uniform because of cross-pollination which is the rule in Rye but the exception in other cereal crops. It probably occurred as a weed in fields before being accepted as a crop rather later in the history of civilisation.Its oldest archaeological records date from the first Iron Age (Halstatt period, c. 900-700 B.C.). Thefirst chromosome counts are those of Nemec (1910) as cited by Emme (1928), giving 18 chromosomes for endosperm cells. -
Linear Increase of Structural and Numerical Chromosome 9 Abnormalities in Human Sperm Regarding Age
European Journal of Human Genetics (2003) 11, 754–759 & 2003 Nature Publishing Group All rights reserved 1018-4813/03 $25.00 www.nature.com/ejhg ARTICLE Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age Merce` Bosch1, Osvaldo Rajmil2, Josep Egozcue3 and Cristina Templado*,1 1Departament de Biologia Cel.lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Auto`noma de Barcelona, Bellaterra 08193, Spain; 2Servei d’Andrologia, Fundacio´ Puigvert, Barcelona 08025, Spain; 3Departament de Biologia Cel.lular, Fisiologia i Immunologia, Facultat de Cie`ncies, Universitat Auto`noma de Barcelona, Bellaterra 08193, Spain A simultaneous four-colour fluorescence in situ hybridisation (FISH) assay was used in human sperm in order to search for a paternal age effect on: (1) the incidence of structural aberrations and aneuploidy of chromosome 9, and (2) the sex ratio in both normal spermatozoa and spermatozoa with a numerical or structural abnormality of chromosome 9. The sperm samples were collected from 18 healthy donors, aged 24–74 years (mean 48.8 years old). Specific probes for the subtelomeric 9q region (9qter), centromeric regions of chromosomes 6 and 9, and the satellite III region of the Y chromosome were used for FISH analysis. A total of 190 117 sperms were evaluated with a minimum of 10 000 sperm scored from each donor. A significant linear increase in the overall level of duplications and deletions for the centromeric and subtelomeric regions of chromosome 9 (Pr0.002), chromosome 9 disomy (Po0.0001) as well as diploidy (Po0.0001) was detected in relation to age. The percentage of increase for each 10-year period was 29% for chromosome 9 disomy, 18.8% for diploidy, and ranged from 14.6 to 28% for structural aberrations. -
Repetitive Elements in Humans
International Journal of Molecular Sciences Review Repetitive Elements in Humans Thomas Liehr Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, D-07747 Jena, Germany; [email protected] Abstract: Repetitive DNA in humans is still widely considered to be meaningless, and variations within this part of the genome are generally considered to be harmless to the carrier. In contrast, for euchromatic variation, one becomes more careful in classifying inter-individual differences as meaningless and rather tends to see them as possible influencers of the so-called ‘genetic background’, being able to at least potentially influence disease susceptibilities. Here, the known ‘bad boys’ among repetitive DNAs are reviewed. Variable numbers of tandem repeats (VNTRs = micro- and minisatellites), small-scale repetitive elements (SSREs) and even chromosomal heteromorphisms (CHs) may therefore have direct or indirect influences on human diseases and susceptibilities. Summarizing this specific aspect here for the first time should contribute to stimulating more research on human repetitive DNA. It should also become clear that these kinds of studies must be done at all available levels of resolution, i.e., from the base pair to chromosomal level and, importantly, the epigenetic level, as well. Keywords: variable numbers of tandem repeats (VNTRs); microsatellites; minisatellites; small-scale repetitive elements (SSREs); chromosomal heteromorphisms (CHs); higher-order repeat (HOR); retroviral DNA 1. Introduction Citation: Liehr, T. Repetitive In humans, like in other higher species, the genome of one individual never looks 100% Elements in Humans. Int. J. Mol. Sci. alike to another one [1], even among those of the same gender or between monozygotic 2021, 22, 2072. -
Sir2 Mitigates an Intrinsic Imbalance in Origin Licensing Efficiency Between Early- and Late-Replicating Euchromatin
Sir2 mitigates an intrinsic imbalance in origin licensing efficiency between early- and late-replicating euchromatin Timothy Hoggarda, Carolin A. Müllerb, Conrad A. Nieduszynskib, Michael Weinreichc, and Catherine A. Foxa,1 aDepartment of Biomolecular Chemistry, School of Medicine and Public Health, University of Wisconsin–Madison, Madison, WI 53706; bSir William Dunn School of Pathology, University of Oxford, OX1 3RE Oxford, United Kingdom; and cDivision of Molecular and Cellular Biosciences, National Science Foundation, Alexandria, VA 22314 Edited by Jasper Rine, University of California, Berkeley, CA, and approved May 7, 2020 (received for review March 11, 2020) A eukaryotic chromosome relies on the function of multiple illuminate issues relevant to genome replication that would be spatially distributed DNA replication origins for its stable inheri- difficult to glean from classical approaches. It is now established tance. The spatial location of an origin is determined by the that approximately half of yeast origins, distributed broadly over chromosomal position of an MCM complex, the inactive form of the the central regions of chromosomes, act in the first portion of S DNA replicative helicase that is assembled onto DNA in G1-phase phase (early and mid origins), while the remaining origins, gen- (also known as origin licensing). While the biochemistry of origin erally located between ∼15 and 75 kb from the telomeric ends, licensing is understood, the mechanisms that promote an adequate act later (late origins). Most of the yeast genome is euchromatic, spatial distribution of MCM complexes across chromosomes are not. and its duplication requires both early and late origins (Fig. 1). We have elucidated a role for the Sir2 histone deacetylase in estab- The terminal 5 to 10 kb of yeast chromosomes exist in a het- lishing the normal distribution of MCM complexes across Saccharo- erochromatic structure. -
Duplication 9P and Their Implication to Phenotype
Guilherme et al. BMC Medical Genetics (2014) 15:142 DOI 10.1186/s12881-014-0142-1 RESEARCH ARTICLE Open Access Duplication 9p and their implication to phenotype Roberta Santos Guilherme1, Vera Ayres Meloni1, Ana Beatriz Alvarez Perez1, Ana Luiza Pilla1, Marco Antonio Paula de Ramos1, Anelisa Gollo Dantas1, Sylvia Satomi Takeno1, Leslie Domenici Kulikowski2 and Maria Isabel Melaragno1* Abstract Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations. Methods: The rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization (FISH) with different probes. Results: Two patients presented de novo dicentric chromosomes: der(9;15)t(9;15)(p11.2;p13) and der(9;21)t(9;21) (p13.1;p13.1). One patient presented two concomitant rearranged chromosomes: a der(12)t(9;12)(q21.13;p13.33) and an psu i(9)(p10) which showed FISH centromeric signal smaller than in the normal chromosome 9. Besides the duplication 9p24.3p13.1, array revealed a 7.3 Mb deletion in 9q13q21.13 in this patient. The break in the psu i(9) (p10) probably occurred in the centromere resulting in a smaller centromere and with part of the 9q translocated to the distal 12p with the deletion 9q occurring during this rearrangement. Two patients, brother and sister, present 9p duplication concomitant to 18p deletion due to an inherited der(18)t(9;18)(p11.2;p11.31)mat. -
Chromosome 9 Deletions and Recurrence of Superficial
Oncogene (2000) 19, 6317 ± 6323 ã 2000 Nature Publishing Group All rights reserved 0950 ± 9232/00 $15.00 www.nature.com/onc Chromosome 9 deletions and recurrence of super®cial bladder cancer: identi®cation of four regions of prognostic interest Maryse Simoneau1,He leÁ ne LaRue1, Tahar O Aboulkassim1, FrancËois Meyer1, Lynne Moore1 and Yves Fradet*,1 1Centre de recherche en canceÂrologie de l'Universite Laval, Centre Hospitalier Universitaire de QueÂbec, Pavillon L'HoÃtel-Dieu de QueÂbec, QueÂbec, Canada In a previous study, loss of heterozygosity (LOH) of 28 various grades and stages, however, in low stage chromosome 9 microsatellite markers was assessed on tumors, they are often the only genetic anomaly 139 Ta/T1 bladder tumors. LOH at one or more loci identi®ed. In a previous study of chromosome 9 was detected in 67 tumors, 62 presenting subchromoso- LOH on a series of 139 primary Ta, T1 bladder mal deletions. One hundred and thirty-three of these tumors obtained at initial diagnosis (Simoneau et al., patients have now been followed for up to 8 years. The 1999) we found deletion of at least one chromosome 9 purpose of the present study was to evaluate the potential marker in 48% of tumors. Chromosome 9 monosomy biological signi®cance of chromosome 9 deletions in was a rare event and deletions on 9q were twice as super®cial bladder tumors at initial diagnosis. High frequent as deletions on 9p. Moreover, only 4% of grade was associated with LOH (P=0.004). Large cases had deletions on 9p only. This suggests that tumors carried more frequently 9p deletions (P=0.022). -
Transcription Organizes Euchromatin Via Microphase Separation
ARTICLE https://doi.org/10.1038/s41467-021-21589-3 OPEN Transcription organizes euchromatin via microphase separation Lennart Hilbert 1,2,3,7,8, Yuko Sato4,11, Ksenia Kuznetsova2,11, Tommaso Bianucci 2,3,11, Hiroshi Kimura 4, ✉ Frank Jülicher 1,3,5,6, Alf Honigmann2, Vasily Zaburdaev1,3,9,12 & Nadine L. Vastenhouw 2,10,12 In eukaryotes, DNA is packed inside the cell nucleus in the form of chromatin, which consists of DNA, proteins such as histones, and RNA. Euchromatin, which is permissive for tran- 1234567890():,; scription, is spatially organized into transcriptionally inactive domains interspersed with pockets of transcriptional activity. While transcription and RNA have been implicated in euchromatin organization, it remains unclear how their interplay forms and maintains tran- scription pockets. Here we combine theory and experiment to analyze the dynamics of euchromatin organization as pluripotent zebrafish cells exit mitosis and begin transcription. We show that accumulation of RNA induces formation of transcription pockets which dis- place transcriptionally inactive chromatin. We propose that the accumulating RNA recruits RNA-binding proteins that together tend to separate from transcriptionally inactive euchro- matin. Full phase separation is prevented because RNA remains tethered to transcribed euchromatin through RNA polymerases. Instead, smaller scale microphases emerge that do not grow further and form the typical pattern of euchromatin organization. 1 Center for Systems Biology Dresden, Dresden, Germany. 2 Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany. 3 Max Planck Institute for the Physics of Complex Systems, Dresden, Germany. 4 Tokyo Institute of Technology, Yokohama, Kanagawa, Japan. 5 Center for Advancing Electronics Dresden, Technical University Dresden, Dresden, Germany. -
Condensed DNA: Condensing the Concepts
Progress in Biophysics and Molecular Biology 105 (2011) 208e222 Contents lists available at ScienceDirect Progress in Biophysics and Molecular Biology journal homepage: www.elsevier.com/locate/pbiomolbio Review Condensed DNA: Condensing the concepts Vladimir B. Teif a,b,*, Klemen Bohinc c,d a BioQuant and German Cancer Research Center, Im Neuenheimer Feld 267, 69120 Heidelberg, Germany b Institute of Bioorganic Chemistry, Belarus National Academy of Sciences, Kuprevich 5/2, 220141, Minsk, Belarus c Faculty of Health Sciences, Zdravstvena pot 5, 1000 Ljubljana, Slovenia d Faculty of Electrical Engineering, University of Ljubljana, Trzaska 25, 1000 Ljubljana, Slovenia article info abstract Article history: DNA is stored in vivo in a highly compact, so-called condensed phase, where gene regulatory processes Available online 16 July 2010 are governed by the intricate interplay between different states of DNA compaction. These systems often have surprising properties, which one would not predict from classical concepts of dilute solutions. The Keywords: mechanistic details of DNA packing are essential for its functioning, as revealed by the recent devel- DNA condensation opments coming from biochemistry, electrostatics, statistical mechanics, and molecular and cell biology. Ligand binding Different aspects of condensed DNA behavior are linked to each other, but the links are often hidden in Counterion correlations the bulk of experimental and theoretical details. Here we try to condense some of these concepts and Macromolecular crowding fi Chromatin provide interconnections between the different elds. After a brief description of main experimental Gene regulation features of DNA condensation inside viruses, bacteria, eukaryotes and the test tube, main theoretical approaches for the description of these systems are presented. -
WNT16 Is a New Marker of Senescence
Table S1. A. Complete list of 177 genes overexpressed in replicative senescence Value Gene Description UniGene RefSeq 2.440 WNT16 wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 2, mRNA. Hs.272375 NM_016087 2.355 MMP10 matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA. Hs.2258 NM_002425 2.344 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA. Hs.375129 NM_002422 2.300 HIST1H2AC Histone cluster 1, H2ac Hs.484950 2.134 CLDN1 claudin 1 (CLDN1), mRNA. Hs.439060 NM_021101 2.119 TSPAN13 tetraspanin 13 (TSPAN13), mRNA. Hs.364544 NM_014399 2.112 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 2.070 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 2.026 DCBLD2 discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA. Hs.203691 NM_080927 2.007 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), mRNA. Hs.594481 NM_002575 2.004 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 1.989 OBFC2A Oligonucleotide/oligosaccharide-binding fold containing 2A Hs.591610 1.962 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 1.947 PLCB4 phospholipase C, beta 4 (PLCB4), transcript variant 2, mRNA. Hs.472101 NM_182797 1.934 PLCB4 phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. Hs.472101 NM_000933 1.933 KRTAP1-5 keratin associated protein 1-5 (KRTAP1-5), mRNA. Hs.534499 NM_031957 1.894 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 1.884 CYTL1 cytokine-like 1 (CYTL1), mRNA. Hs.13872 NM_018659 tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), 1.848 TNFRSF10D Hs.213467 NM_003840 mRNA. -
Mitochondrial Stability in Diabetic Retinopathy: Lessons Learned from Epigenetics
Diabetes Volume 68, February 2019 241 Mitochondrial Stability in Diabetic Retinopathy: Lessons Learned From Epigenetics Renu A. Kowluru Diabetes 2019;68:241–247 | https://doi.org/10.2337/dbi18-0016 Diabetic retinopathy remains the leading cause of ac- With time, preretinal hemorrhage and neovascularization quired blindness in working-age adults. While the cutting- begin to appear, and if not treated, the retina detaches, edge research in the field has identified many leading to blindness. The pathogenesis of the disease is molecular, functional, and structural abnormalities, the strongly associated with the duration of diabetes, and exact molecular mechanism of this devastating disease uncontrolled blood glucose is considered as the primary remains obscure. Diabetic environment drives dysfunc- driving factor; however, blood pressure and hyperlipid- tion of the power generator of the cell and disturbs the emia also play significant roles in its development. Although PERSPECTIVES IN DIABETES homeostasis of mitochondrial dynamic. Mitochondrial the clinical pathology of diabetic retinopathy is mainly DNA (mtDNA) is damaged, the transcription of mtDNA- observed in the retinal microvasculature, recent evidence encoded genes is impaired, and the electron transport has clearly demonstrated neurodegeneration as an early chain is compromised, fueling into a vicious cycle of free event in the pathogenesis of this blinding disease (2,3). radicals. The hyperglycemic milieu also alters the epige- High glucose initiates a whole array of molecular, bio- netic machinery, and mtDNA and other genes associated with mitochondrial homeostasis are epigenetically mod- chemical, and functional abnormalities affecting many ified, further contributing to the mitochondrial damage. metabolic pathways including activation of protein kinase Thus, mitochondria appear to have a significant role in C, increased production of advanced glycation end prod- the development of diabetic retinopathy, and unravel- ucts, and polyol and hexosamine pathways.