Complete Or Partial Homozygosity of Chromosome 13 in Primary Retinobiastoma'
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Centromere RNA Is a Key Component for the Assembly of Nucleoproteins at the Nucleolus and Centromere
Downloaded from genome.cshlp.org on September 23, 2021 - Published by Cold Spring Harbor Laboratory Press Letter Centromere RNA is a key component for the assembly of nucleoproteins at the nucleolus and centromere Lee H. Wong,1,3 Kate H. Brettingham-Moore,1 Lyn Chan,1 Julie M. Quach,1 Melisssa A. Anderson,1 Emma L. Northrop,1 Ross Hannan,2 Richard Saffery,1 Margaret L. Shaw,1 Evan Williams,1 and K.H. Andy Choo1 1Chromosome and Chromatin Research Laboratory, Murdoch Childrens Research Institute & Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville 3052, Victoria, Australia; 2Peter MacCallum Research Institute, St. Andrew’s Place, East Melbourne, Victoria 3002, Australia The centromere is a complex structure, the components and assembly pathway of which remain inadequately defined. Here, we demonstrate that centromeric ␣-satellite RNA and proteins CENPC1 and INCENP accumulate in the human interphase nucleolus in an RNA polymerase I–dependent manner. The nucleolar targeting of CENPC1 and INCENP requires ␣-satellite RNA, as evident from the delocalization of both proteins from the nucleolus in RNase-treated cells, and the nucleolar relocalization of these proteins following ␣-satellite RNA replenishment in these cells. Using protein truncation and in vitro mutagenesis, we have identified the nucleolar localization sequences on CENPC1 and INCENP. We present evidence that CENPC1 is an RNA-associating protein that binds ␣-satellite RNA by an in vitro binding assay. Using chromatin immunoprecipitation, RNase treatment, and “RNA replenishment” experiments, we show that ␣-satellite RNA is a key component in the assembly of CENPC1, INCENP, and survivin (an INCENP-interacting protein) at the metaphase centromere. -
4P Duplications
4p Duplications rarechromo.org Sources 4p duplications The information A 4p duplication is a rare chromosome disorder in which in this leaflet some of the material in one of the body’s 46 chromosomes comes from the is duplicated. Like most other chromosome disorders, this medical is associated to a variable extent with birth defects, literature and developmental delay and learning difficulties. from Unique’s 38 Chromosomes come in different sizes, each with a short members with (p) and a long (q) arm. They are numbered from largest to 4p duplications, smallest according to their size, from number 1 to number 15 of them with 22, in addition to the sex chromosomes, X and Y. We a simple have two copies of each of the chromosomes (23 pairs), duplication of 4p one inherited from our father and one inherited from our that did not mother. People with a chromosome 4p duplication have a involve any other repeat of some of the material on the short arm of one of chromosome, their chromosomes 4. The other chromosome 4 is the who were usual size. 4p duplications are sometimes also called surveyed in Trisomy 4p. 2004/5. Unique is This leaflet explains some of the features that are the same extremely or similar between people with a duplication of 4p. grateful to the People with different breakpoints have different features, families who but those with a duplication that covers at least two thirds took part in the of the uppermost part of the short arm share certain core survey. features. References When chromosomes are examined, they are stained with a dye that gives a characteristic pattern of dark and light The text bands. -
Chromosome 13 Introduction Chromosome 13 (As Well As Chromosomes 14, 15, 21 and 22) Is an Acrocentric Chromosome. Short Arms Of
Chromosome 13 ©Chromosome Disorder Outreach Inc. (CDO) Technical genetic content provided by Dr. Iosif Lurie, M.D. Ph.D Medical Geneticist and CDO Medical Consultant/Advisor. Ideogram courtesy of the University of Washington Department of Pathology: ©1994 David Adler.hum_13.gif Introduction Chromosome 13 (as well as chromosomes 14, 15, 21 and 22) is an acrocentric chromosome. Short arms of acrocentric chromosomes do not contain any genes. All genes are located in the long arm. The length of the long arm is ~95 Mb. It is ~3.5% of the total human genome. Chromosome 13 is a gene poor area. There are only 600–700 genes within this chromosome. Structural abnormalities of the long arm of chromosome 13 are very common. There are at least 750 patients with deletions of different segments of the long arm (including patients with an associated imbalance for another chromosome). There are several syndromes associated with deletions of the long arm of chromosome 13. One of these syndromes is caused by deletions of 13q14 and neighboring areas. The main manifestation of this syndrome is retinoblastoma. Deletions of 13q32 and neighboring areas cause multiple defects of the brain, eye, heart, kidney, genitalia and extremities. The syndrome caused by this deletion is well known since the 1970’s. Distal deletions of 13q33q34 usually do not produce serious malformations. Deletions of the large area between 13q21 and 13q31 do not produce any stabile and well–recognized syndromes. Deletions of Chromosome 13 Chromosome 13 (as well as chromosomes 14, 15, 21 and 22) belongs to the group of acrocentric chromosomes. -
Phenotype-Karyotype Correlation in Patientstrisomic
J Med Genet: first published as 10.1136/jmg.23.4.310 on 1 August 1986. Downloaded from Journal of Medical Genetics 1986, 23, 310-315 Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13 SUGANDHI A THARAPEL*, RAYMOND C LEWANDOWSKIt, AVIRACHAN T THARAPEL*, AND R SID WILROY JR* From *the Division of Genetics, Department of Pediatrics, University of Tennessee Center for the Health Sciences, Memphis, Tennessee; and tDriscoll Foundation Children's Hospital, Corpus Christi, Texas, USA. SUMMARY Analysis of clinical and cytogenetic findings taken from 62 published cases of partial trisomies of chromosome 13 showed that 15 had partial trisomy for the proximal long arm and 47 had trisomy for the distal long arm. Persistence of fetal haemoglobin (Hb F), increased projections of polymorphonuclear leucocytes (PMN), depressed nasal bridge, cleft lip/palate, and clinodactyly were more frequent in patients with proximal trisomy 13. In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, highly arched palate, and hexadactyly. In addition, several other features were common to both the groups, often showing inconsistency even when the same segment was in trisomy. The influence of the second aneusomy as the most likely cause for such inconsistent and overlapping phenotypes is discussed in view of the fact that 42 of 62 cases were derived from a balanced translocation carrier parent. During the past few years, our knowledge regarding parameters of complete trisomy 13 syndrome, malformation syndromes resulting from partial dupli- namely increased nuclear projections of poly- cations and deletions of chromosomes has increased morphonuclear leucocytes (PMN) to the 13q12 considerably. -
Congenital Heart Disease and Chromossomopathies Detected By
Review Article DOI: 10.1590/0103-0582201432213213 Congenital heart disease and chromossomopathies detected by the karyotype Cardiopatias congênitas e cromossomopatias detectadas por meio do cariótipo Cardiopatías congénitas y anomalías cromosómicas detectadas mediante cariotipo Patrícia Trevisan1, Rafael Fabiano M. Rosa2, Dayane Bohn Koshiyama1, Tatiana Diehl Zen1, Giorgio Adriano Paskulin1, Paulo Ricardo G. Zen1 ABSTRACT Conclusions: Despite all the progress made in recent de- cades in the field of cytogenetic, the karyotype remains an es- Objective: To review the relationship between congenital sential tool in order to evaluate patients with congenital heart heart defects and chromosomal abnormalities detected by disease. The detailed dysmorphological physical examination the karyotype. is of great importance to indicate the need of a karyotype. Data sources: Scientific articles were searched in MED- LINE database, using the descriptors “karyotype” OR Key-words: heart defects, congenital; karyotype; Down “chromosomal” OR “chromosome” AND “heart defects, syndrome; trisomy; chromosome aberrations. congenital”. The research was limited to articles published in English from 1980 on. RESUMO Data synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood Objetivo: Realizar uma revisão da literatura sobre a group of lesions. Several researchers have evaluated the pres- relação das cardiopatias congênitas com anormalidades ence of chromosomal abnormalities detected by the karyo- cromossômicas detectadas por meio do exame de cariótipo. type in patients with congenital heart disease. However, Fontes de dados: Pesquisaram-se artigos científicos no most of the articles were retrospective studies developed in portal MEDLINE, utilizando-se os descritores “karyotype” Europe and only some of the studied patients had a karyo- OR “chromosomal” OR “chromosome” AND “heart defects, type exam. -
The Genomic Landscape of Centromeres in Cancers Anjan K
www.nature.com/scientificreports OPEN The Genomic Landscape of Centromeres in Cancers Anjan K. Saha 1,2,3, Mohamad Mourad3, Mark H. Kaplan3, Ilana Chefetz4, Sami N. Malek3, Ronald Buckanovich5, David M. Markovitz2,3,6,7 & Rafael Contreras-Galindo3,4 Received: 8 March 2019 Centromere genomics remain poorly characterized in cancer, due to technologic limitations in Accepted: 23 July 2019 sequencing and bioinformatics methodologies that make high-resolution delineation of centromeric Published: xx xx xxxx loci difcult to achieve. We here leverage a highly specifc and targeted rapid PCR methodology to quantitatively assess the genomic landscape of centromeres in cancer cell lines and primary tissue. PCR- based profling of centromeres revealed widespread heterogeneity of centromeric and pericentromeric sequences in cancer cells and tissues as compared to healthy counterparts. Quantitative reductions in centromeric core and pericentromeric markers (α-satellite units and HERV-K copies) were observed in neoplastic samples as compared to healthy counterparts. Subsequent phylogenetic analysis of a pericentromeric endogenous retrovirus amplifed by PCR revealed possible gene conversion events occurring at numerous pericentromeric loci in the setting of malignancy. Our fndings collectively represent a more comprehensive evaluation of centromere genetics in the setting of malignancy, providing valuable insight into the evolution and reshufing of centromeric sequences in cancer development and progression. Te centromere is essential to eukaryotic biology due to its critical role in genome inheritance1,2. Te nucleic acid sequences that dominate the human centromeric landscape are α-satellites, arrays of ~171 base-pair monomeric units arranged into higher-order arrays throughout the centromere of each chromosome3–103 1–3. -
Allele-Specific Disparity in Breast Cancer Fatemeh Kaveh1, Hege Edvardsen1, Anne-Lise Børresen-Dale1,2, Vessela N Kristensen1,2,3* and Hiroko K Solvang1,4
Kaveh et al. BMC Medical Genomics 2011, 4:85 http://www.biomedcentral.com/1755-8794/4/85 RESEARCHARTICLE Open Access Allele-specific disparity in breast cancer Fatemeh Kaveh1, Hege Edvardsen1, Anne-Lise Børresen-Dale1,2, Vessela N Kristensen1,2,3* and Hiroko K Solvang1,4 Abstract Background: In a cancer cell the number of copies of a locus may vary due to amplification and deletion and these variations are denoted as copy number alterations (CNAs). We focus on the disparity of CNAs in tumour samples, which were compared to those in blood in order to identify the directional loss of heterozygosity. Methods: We propose a numerical algorithm and apply it to data from the Illumina 109K-SNP array on 112 samples from breast cancer patients. B-allele frequency (BAF) and log R ratio (LRR) of Illumina were used to estimate Euclidian distances. For each locus, we compared genotypes in blood and tumour for subset of samples being heterozygous in blood. We identified loci showing preferential disparity from heterozygous toward either the A/B-allele homozygous (allelic disparity). The chi-squared and Cochran-Armitage trend tests were used to examine whether there is an association between high levels of disparity in single nucleotide polymorphisms (SNPs) and molecular, clinical and tumour-related parameters. To identify pathways and network functions over-represented within the resulting gene sets, we used Ingenuity Pathway Analysis (IPA). Results: To identify loci with a high level of disparity, we selected SNPs 1) with a substantial degree of disparity and 2) with substantial frequency (at least 50% of the samples heterozygous for the respective locus). -
Cytogenetic and Molecular Studies of Trisomy 13
J Med Genet: first published as 10.1136/jmg.24.12.725 on 1 December 1987. Downloaded from Journal of Medical Genetics 1987, 24, 725-732 Cytogenetic and molecular studies of trisomy 13 TERRY HASSOLD*, PATRICIA A JACOBS*, MARK LEPPERTt, AND MICHAEL SHELDON* From *the Division of Human Genetics, Department of Pediatrics, Cornell University Medical College, New York, NY 10021; and tthe Howard Hughes Medical Institute, University of Utah Medical Center, Salt Lake City, Utah 84132, USA. SUMMARY Chromosome heteromorphisms, restriction fragment length polymorphisms, or both were used to study the parental origin of 33 cases of simple trisomy 13 and eight cases of translocation trisomy 13. The most common origin for the simple trisomies was non-disjunction at maternal meiosis I, while for the translocations an equal number of paternally and maternally derived cases was observed. In seven of the simple trisomies, information was obtained from both the cytogenetic and molecular markers, making it possible to study recombination between the two non-disjoined chromosomes. Five of the seven cases involved errors at meiosis I, with crossing over being detected in two of three cases of maternal origin and in one of two cases of paternal origin. This indicates that absence of recombination because of pairing failure is unlikely to be of major importance in the genesis of trisomy 13. copyright. Almost all information on the parental origin of (RFLP) analysis to the study of the origin of autosomal trisomy has come from analysis of trisomy. The advantages of this approach are that chromosome heteromorphisms, cytologically (1) the detection of allelic variation using RFLPs is detectable variants which occur regularly on 10 of objective; (2) the DNA fragments show gene the 22 autosomes. -
Satellite DNA at the Centromere Is Dispensable for Segregation Fidelity
G C A T T A C G G C A T genes Brief Report Satellite DNA at the Centromere Is Dispensable for Segregation Fidelity Annalisa Roberti, Mirella Bensi, Alice Mazzagatti, Francesca M. Piras, Solomon G. Nergadze , Elena Giulotto * and Elena Raimondi * Department of Biology and Biotechnology “L. Spallanzani”, University of Pavia, Via Ferrata 1, 27100 Pavia, Italy; [email protected] (A.R.); [email protected] (M.B.); [email protected] (A.M.); [email protected] (F.M.P.); [email protected] (S.G.N.) * Correspondence: [email protected] (E.G.); [email protected] (E.R.) Received: 7 June 2019; Accepted: 19 June 2019; Published: 20 June 2019 Abstract: The typical vertebrate centromeres contain long stretches of highly repeated DNA sequences (satellite DNA). We previously demonstrated that the karyotypes of the species belonging to the genus Equus are characterized by the presence of satellite-free and satellite-based centromeres and represent a unique biological model for the study of centromere organization and behavior. Using horse primary fibroblasts cultured in vitro, we compared the segregation fidelity of chromosome 11, whose centromere is satellite-free, with that of chromosome 13, which has similar size and a centromere containing long stretches of satellite DNA. The mitotic stability of the two chromosomes was compared under normal conditions and under mitotic stress induced by the spindle inhibitor, nocodazole. Two independent molecular-cytogenetic approaches were used—the interphase aneuploidy analysis and the cytokinesis-block micronucleus assay. Both assays were coupled to fluorescence in situ hybridization with chromosome specific probes in order to identify chromosome 11 and chromosome 13, respectively. -
Variability of Human Rdna
cells Review Variability of Human rDNA Evgeny Smirnov *, Nikola Chmúrˇciaková , František Liška, Pavla Bažantová and Dušan Cmarko Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic; [email protected] (N.C.); [email protected] (F.L.); [email protected] (P.B.); [email protected] (D.C.) * Correspondence: [email protected] Abstract: In human cells, ribosomal DNA (rDNA) is arranged in ten clusters of multiple tandem repeats. Each repeat is usually described as consisting of two parts: the 13 kb long ribosomal part, containing three genes coding for 18S, 5.8S and 28S RNAs of the ribosomal particles, and the 30 kb long intergenic spacer (IGS). However, this standard scheme is, amazingly, often altered as a result of the peculiar instability of the locus, so that the sequence of each repeat and the number of the repeats in each cluster are highly variable. In the present review, we discuss the causes and types of human rDNA instability, the methods of its detection, its distribution within the locus, the ways in which it is prevented or reversed, and its biological significance. The data of the literature suggest that the variability of the rDNA is not only a potential cause of pathology, but also an important, though still poorly understood, aspect of the normal cell physiology. Keywords: human rDNA; sequence variability; mutations; copy number 1. Introduction In human cells, ribosomal DNA (rDNA) is arranged in ten clusters of multiple tandem Citation: Smirnov, E.; repeats. -
Chromosome Abnormalities
Testing for Chromosome Abnormalities Department of Obstetrics and Gynecology Maternal-Fetal Medicine and Prenatal Genetics Congratulations on your pregnancy! While most babies are born healthy, approximately 3-5% will be affected with certain birth defects or genetic conditions. In all pregnancies, tests are offered that can tell if the pregnancy may be at high risk for a condition called a chromosome abnormality. Decisions about testing in pregnancy are personal. Some choose not to have any testing done. Others find the information from testing to be helpful. We have made this booklet to give some information on the tests available. We hope that having this information and discussing it with your OB/GYN provider will help you to decide whether this testing makes sense for you and your family. What are chromosomes? Our bodies are made of tiny cells. Chromosomes are the packages of genetic information (DNA) inside our Chromosome cells. They contain the instructions for our growth Cell and development. Usually, each person has a total of 46 chromosomes in each cell. The chromosomes come in pairs (23 pairs). Each parent contributes one chromosome to each pair. When a fetus (developing baby) has extra or missing chromosomes, it can lead to medical problems. An extra chromosome (three copies instead of two) is called a trisomy. A missing chromosome (one copy instead of two) is called a monosomy. This type of genetic condition doesn’t usually run in families. It can happen just by chance in any pregnancy. DNA What are the most common chromosomal abnormalities? The most common differences related to the number of chromosomes are: • Down syndrome: Down syndrome is also called trisomy 21. -
Receptor Signaling Through Osteoclast-Associated Monocyte
Downloaded from http://www.jimmunol.org/ by guest on September 29, 2021 is online at: average * The Journal of Immunology The Journal of Immunology , 20 of which you can access for free at: 2015; 194:3169-3179; Prepublished online 27 from submission to initial decision 4 weeks from acceptance to publication February 2015; doi: 10.4049/jimmunol.1402800 http://www.jimmunol.org/content/194/7/3169 Collagen Induces Maturation of Human Monocyte-Derived Dendritic Cells by Signaling through Osteoclast-Associated Receptor Heidi S. Schultz, Louise M. Nitze, Louise H. Zeuthen, Pernille Keller, Albrecht Gruhler, Jesper Pass, Jianhe Chen, Li Guo, Andrew J. Fleetwood, John A. Hamilton, Martin W. Berchtold and Svetlana Panina J Immunol cites 43 articles Submit online. Every submission reviewed by practicing scientists ? is published twice each month by Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Author Choice option Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts http://jimmunol.org/subscription Freely available online through http://www.jimmunol.org/content/suppl/2015/02/27/jimmunol.140280 0.DCSupplemental This article http://www.jimmunol.org/content/194/7/3169.full#ref-list-1 Information about subscribing to The JI No Triage! Fast Publication! Rapid Reviews! 30 days* Why • • • Material References Permissions Email Alerts Subscription Author Choice Supplementary The Journal of Immunology The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2015 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606.